Thalassemia Patients and Friends
Discussion Forums => Thalassemia Minor => Topic started by: Andy Battaglia on May 17, 2010, 12:13:24 AM
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I have brought up this topic previously and have had no luck finding any thal minor who has been tested or was willing to be tested for Pulmonary Hypertension (PHT or PAH). It is well established that both thal intermedias (prevalent in non-transfusing intermedia) and thal majors often develop PHT. I believe that the same causes are responsible for PHT in intermedia and major, among them low nitric oxide (NO) levels and low oxygen levels. Years of low NO lead to lowered flexibility of the artery between the lungs and the heart and this is a known cause of PHT in thal. This leads to many of the symptoms we constantly also hear from thal minors, including tiredness and fatigue, breathlessness and poor circulation.
Even mild PHT causes symptoms, so I am still hoping we can find a few minors who have regular symptoms who will ask their doctors to be tested for PHT. I want to know if anyone is found to have even mild PHT. Minors are ignored by doctors and if I could bring some reports of PHT in minors to certain doctors that I regularly engage at conferences, it may serve to get some investigation of this moving ahead. Oldthalgal, Preety, anyone? I must add that PHT is easily treatable with sildenafil citrate.
There is also one more factor I would like to investigate and this would be the experience of anyone who has ever used sildenafil citrate, which is better known as Viagra. This drug was first developed to combat high blood pressure, so please be aware that it does have a use beyond its more well known use. Since this may be something people would want kept confidential, if you don't want to mention this on the forum, please feel free to send me a PM. Your confidence is always guaranteed. What I want to know is if any thal minor has had the experience of suddenly feeling better while using sildenafil. Less fatigue, more ability to function physically or less breathlessness? This could be of great benefit to thal minors in general, especially as they age, as these symptoms do appear to worsen as one gets older.
Please help with this. I believe this may be the key to solving many of the problems of thal minor.
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what about l arginin administration for thal minors as a way to preserve NO pathway? ?
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Andy,
Pardon my ignorance,but how can one get tested for PHT?
Zaini.
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Mohamed,
You are correct. L-carntine, L-arginine and combinations of Alpha Lipoic Acid and Acetyl L-Carnitine, or L-arginine and lysine are all possibilities to enhance NO production.
Zaini,
there are various tests used to diagnose PHT. A good overview can be seen at the Mayo Clinic site.
http://www.mayoclinic.com/health/pulmonary-hypertension/ds00430/dsection=tests-and-diagnosis
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i have heard they got these tests in my hospital now. Untill a year ago I never heard of it. What problems does this cause?
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http://www.mayoclinic.com/health/pulmonary-hypertension/DS00430
Definition
By Mayo Clinic staff
Pulmonary hypertension is a type of high blood pressure that affects only the arteries in the lungs and the right side of your heart.
Pulmonary hypertension begins when tiny arteries in your lungs, called pulmonary arteries, and capillaries become narrowed, blocked or destroyed. This makes it harder for blood to flow through your lungs, which raises pressure within the arteries in your lungs. As the pressure builds, your heart's lower right chamber (right ventricle) must work harder to pump blood through your lungs, eventually causing your heart muscle to weaken and eventually fail completely.
Pulmonary hypertension is a serious illness that becomes progressively worse and is sometimes fatal. Although pulmonary hypertension isn't curable, treatments are available that can help lessen symptoms and improve your quality of life.
Symptoms
By Mayo Clinic staff
The signs and symptoms of pulmonary hypertension in its early stages may not be noticeable for months or even years. As the disease progresses, symptoms become worse.
Pulmonary hypertension symptoms include:
* Shortness of breath (dyspnea), initially while exercising and eventually while at rest
* Fatigue
* Dizziness or fainting spells (syncope)
* Chest pressure or pain
* Swelling (edema) in your ankles, legs and eventually in your abdomen (ascites)
* Bluish color to your lips and skin (cyanosis)
* Racing pulse or heart palpitations
Complications
By Mayo Clinic staff
Pulmonary hypertension can lead to a number of complications, including:
* Right-sided heart failure (cor pulmonale). In cor pulmonale, your heart's right ventricle becomes enlarged and has to pump harder than usual to move blood through narrowed or blocked pulmonary arteries. At first, the heart tries to compensate by thickening its walls and expanding the chamber of the right ventricle to increase the amount of blood it can hold. But this thickening and enlarging works only temporarily, and eventually the right ventricle fails from the extra strain.
* Blood clots. Clots help stop bleeding after you've been injured. But sometimes clots form where they're not needed. A number of small clots or just a few large ones dislodge from these veins and travel to the lungs, leading to a form of pulmonary hypertension that is reversible with time and treatment. Having pulmonary hypertension makes it more likely you'll develop clots in the small arteries in your lungs, which is dangerous if you already have narrowed or blocked blood vessels.
* Arrhythmia. Irregular heartbeats (arrhythmias) from the upper or lower chambers of the heart are complications of pulmonary hypertension. These can lead to palpitations, dizziness or fainting and can be fatal.
* Bleeding. Pulmonary hypertension can lead to bleeding into the lungs and coughing up blood (hemoptysis). This is another potentially fatal complication.
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Is it possible to have PHT if you almost always have low blood pressure?
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PHT is not high blood pressure. It is high blood pressure only in the artery between the heart and lungs, and has nothing to do with hypertension.
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Thats interesting. I have thalassemia minor and also G6PD deficiency. I was taking N Acetyl Cysteine to increase my glutathione levels because G6PD deficiency causes glutathione levels to drop. But I ve read that NAC can cause PHT. Thats because NAC is tricking the body into thinking it has hypoxia.
You think I should discontinue taking NAC?
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Hi Karol and welcome,
The study that made the claim that N Acetyl Cysteine can lead to PHT is very questionable and contradicts what has actually been observed in humans. I would discount its mixed results. I usually won't quote from blogs but this one gives an honest view of that study.
http://blog.xtend-life.com/warren_matthews_blog/is-n-acetyl-cysteine-nac-safe.html
Is N-Acetyl Cysteine (NAC) Safe?
N-Acetyl Cysteine (NAC) is a stable form of the essential amino acid L-cysteine. Cysteine is a precursor for glutathione, an important antioxidant in the body. Cysteine also serves as a major sulfur source for many body components. It also may help with Alzheimer’s and also eye health.
However, recently some researchers at the University of Virginia Health System have found some potential side effects which may be troubling for some people who use this nutrient in high doses. But…they are not sure, because these potential side effects have only been found in rats and may not occur in humans…and they did not occur in all rats.
The potential side effect is that NAC can form a red blood cell-derived molecule called nitrosothiol. This could result in your body thinking that it has an oxygen shortage, which in turn can lead to pulmonary arterial hypertension (PAH).
Because it is likely that some of the media will jump on this ‘bandwagon’ I thought that I should mention a few important points about this first so any negative reports don’t raise any concerns for you.
1. The doses in their experiments were VERY high. In fact, I sometimes wonder why the researchers do these experiments and then publish the results because it really is quite meaningless in the real world, unless they are trying to discredit a particular nutrient. Almost every substance when taken in excess can cause a side effect.
2. Many body builders take very high doses of NAC. Up to 2000mgs of more a day in 3 - 4 x 500mgs capsules. I am unaware of any one having the side effect referred to by the researchers.
3. NAC is a valuable nutrient, and a safe one. For more info and references concerning this please click here
Even though there is no evidence of any side effects in humans, as I say frequently you should never ingest any single ingredient in high doses. They should always be combined with other nutrients and co-factors.
Unfortunately there is and always will be a group of consumers that feel more is better, and so when they hear some good results about a particular nutrient they want to take large doses of it and of course the manufacturers and marketers respond and give it to them.
Bottom line…NAC is SAFE. We use it in our formulas but in low amounts. For example, we only use 35mgs of it in our Total Balance and that is with the full dose of 6 tablets per day. It is an important nutrient and it plays a valuable role.
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Checking http://www.mskcc.org/mskcc/html/69310.cfm from Sloan Kettering, there is much mention about the value of NAC is respiratory ailments.
I find that most of the highly publicized studies that attempt to discredit various nutrients are questionable in their results. Meta analysis of other studies are the worst and there have been a couple attempts to discredit vitamin E in this manner. It's amazing seeing how multiple studies show positive benefits to vitamin E, but somehow when all these positive studies are looked at together, they become a negative. This is absurd. When you dig a little deeper into some studies, you find the results cannot be supported.
By the way, are you a two gene carrier for G6PD?
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Good to know. I am a man, so just 1 gene.
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Andy,
I only have a presumed diagnosis of thalassemia (probably hemoglobin h) by my hematologist - he says we can't know for sure until my iron deficiency is resolved. But I do have pulmonary hypertension and the severity strongly correlates with hemolysis. The more stable my red blood cells, the less severe the PH.
I have also wondered about the nitric oxide correlation. I can't take sildenafil citrate because it exacerbates another genetic condition (porphyria) but I have found the the supplement Pycnogenol which has been proven to increase NO helps a great deal.
I'm going to get tested for familial PAH, one form of pulmonary hypertension. If that is negative it will just be considered idiopathic PAH.
One thing I found when researching this was that transfusions can actually be fatal for someone with NO deficiency. The molecule that carries nitric oxide, s-nitrohemoglobin, diminshes 70% in the first day of storage and keeps declining. That makes sense to me since my transfusion 2 years ago was two units of blood that was 3 weeks old. It caused severe heart failure and I almost didn't make it.
Jan
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Hi Jan,
We have an article about the NO content of stored blood at http://www.thalassemiapatientsandfriends.com/index.php?topic=1261.msg10011#msg10011
This seems to be an area that should be getting major attention. How to add NO into blood that will be stored? This would have a profound impact on the value of transfusions.
Has your doctor considered DNA sequencing to determine your thal status?
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Andy,
Here's the link to the article on adding NO to blood. It wqs done in 2007 and I'm not sure if it's been tried for humans yet:
http://www.medpagetoday.com/HematologyOncology/Hematology/6918
I'm seeing a genetics counselor at our university medical center next month but am a bit confused about the testing. My symptoms and bloodwork match exactly the hemoglobin H with an iron deficiency. All of the contraindicated things listed are triggers for - in fact I don't tolerate any legumes right now, but when my Hgb is higher I can handle them without too much hemolysis. I do have Heinz body inclusions and at first we thought maybe G6PD deficiency but my red blood cells only live a short span so the enzyme is actually elevated and we can't really tell. My electrophoresis shows 98.1% HbA, 1.9% HbA2, and no variants. Is HgH considered a variant? My hematololgist isn't convinced the test is very accurate for me and seems to think I have some sort of alpha thalassemia.
Oral iron does nothing for me and even when I had a transfusion my ferritin only got up to 12 at the highest with 2 units. I don't have any bleeding problems but I do have some ongoing low-level viral infections (EBV, CMV and Parvo) that really mess with me. When those titers go down, the hemolysis stabilizes and my Hgb can get up to normal although my ferritin never does. I think I'm going to try a small, slow dose of Venofer and see if it improves anything. My reticulocyte count is normal but goes up and down. We've had many iron IV reactions in my family so I'm a bit concerned - free iron can be oxidative stress, too, but I know iron sucrose is much safer than iron dextran.
One thing that baffles me is my ancestry....my lines are almost all from England/Scotland. Way back there are some Turkish and Mediterranean ties, and my parents' lines do cross a few times.
Thanks for any input -
Jan
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Not sure what the test involves but about 8 years ago I had echo cardio gram and several of those tests with the eletrodes to test electrical flow
Would this be enough to detect PHC? In the past ive had a racing heart etc but its not as bad anymore(most likely due to allergies now that i take antihistamine)
But of course the fatigue and occasional breathing issues do occur..
no chest pain to speak of
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Hey Moik,
PHT is not easily diagnosed and more than one test is usually employed to make the diagnosis. You can read about the various tests at http://www.mayoclinic.com/health/pulmonary-hypertension/DS00430/DSECTION=tests-and-diagnosis
I don't think EKG alone would be sufficient to make the diagnosis.
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Hi Jan,
Yes, hemoglobin H is a variant, but unless you had HbH disease, where three alpha genes are deleted, you will not show this hemoglobin as an adult. It is picked up in infants at birth when they are alpha carriers, but this quickly vanishes, making a DNA analysis the only sure method for determining if you are an alpha carrier. Of course, the favism and your blood work do indicate that alpha is likely. As far as the genetics, alpha thalassemia is found in people of Mediterranean origin, even though beta thal is more commonly associated with this region. However, alpha thal is actually the more predominant thalassemia in terms of carriers worldwide.
I do want to mention that we have been hearing from more alpha thal carriers who seem to also be iron deficient. This is making me wonder about the diagnosis of iron deficiency when alpha thal is involved. There may be something that we are not yet aware of concerning alpha minors. I would suggest caution with long term iron supplementation. If long term supplements are necessary and there is suspicion that it may be the wrong treatment and is causing iron overload, a liver MRI may be advised.
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Andy,
Thanks - I will definitely request the DNA testing. I was also concerned about the possibility of iron being stored and just not showing up as serum ferritin. In fact my serum iron is often normal. I was in a research study that showed my hepcidin levels were high and that was my body's way of suppressing iron absorption to keep from causing more inflammation or contributing to infection. I hate to override that whole system, especiallly since I have renal cell cancer (shrinking on its own after vitamin D therapy). Iron can directly influence cancer growth although my hematologists/oncologists refuse to acknowledge this fact. Here's an article on hepcidin:
http://www.pulmonaryreviews.com/feb06/hepcidin.html
I was diagnosed with pulmonary hypertension by several echocardiograms and chest x-rays. The "gold standard" is right heart catheterization, but being so anemic the bleeding risk at this point outweighs the benefit as far as I'm concerned. The echos were so consistent as far as the pulmonary arterial pressure that the pulmonologist doesn't have a problem with using that for proof.
That's interesting about others with alpha thal showing up with iron deficiency. I wonder if the inflammation from lack of NO is causing us to have a lower rate of iron absorption to attenutate an inflammatory response. My hemolysis is extravascular...elevated indirect bilirubin, normal haptoglobin. But it is so constant that all my red blood cell enzymes are twice the normal range so that probably means they're only 30-60 days old at the most.
Another thing that is interesting to me is that it looks like in alpha thal the red blood cells don't release oxygen as readily (s that related to 2,3-DPG levels?). I have always felt much better at 7000-7500 feet in elevation. Much more than that is just too much oxygen demand, but at 7000 feet the Bohr effect kicks in and causes red blood cells to release oxygen. My doctors keep saying I should move back to a lower elevation, but I feel like I'm suoffocating when I get down to sea level.
Jan
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Jan,
Bacteria, viruses and cancer cells are all proven to thrive in a high iron environment. The whole purpose of serum ferritin is to sequester iron during illness, so that it isn't available to the invader. Your body recognizes the dangers of iron, even if many doctors do not. The supplement, IP6 (phytic acid, inositol hexophosphate) has been heavily researched in regards to cancer because of its ability to inhibit the actions of iron in the cells with its antioxidant properties. This research would not take place if it wasn't already a proven fact that cancer cells thrive in a high iron environment. The world of medical knowledge is rapidly advancing and doctors who don't keep up can do a disservice to their patients. Iron is a potential poison and the body needs only a very small amount daily under normal circumstances.
You may be interested in a post at http://www.thalassemiapatientsandfriends.com/index.php?topic=1282.msg10318#msg10318
Hemoglobin level rises at high altitude to compensate for the lower oxygen concentration in the atmosphere at high altitude. This may help explain why you feel better at 7000 feet.
I don't think oxygen affinity of variant hemoglobins is related to 2,3-DPG levels, but rather is related to the structure of the various types of hemoglobin. There are over 200 known variants and some have such a high oxygen affinity, that they are useless because they don't let go of the oxygen, HbH is one of these variants and exclusion bodies are consistent with HbH. You do have several factors that suggest alpha thal trait, but with a combination of favism and parvo virus, I don't want to speculate. Parvo virus can also cause a hemolytic crisis and anemia, but this wouldn't necessarily lead to iron deficiency because the iron from destroyed red blood cells should be recycled by the body. Serum ferritin should rise along with hepcidin levels, as both reflect the body's iron regulation system. And a low ferritin coupled with normal iron can be a result of iron therapy or hypothyroid, so there are many possibilities which can lead to being treated incorrectly. Getting a proper diagnosis on the alpha thal trait could go a long way towards sorting this out. Long term iron use without any real change is reason to question the iron therapy and look for other explanations.
On the subject of heredity, I found this interesting note at http://findarticles.com/p/articles/mi_qa3890/is_200304/ai_n9219088/?tag=content;col1
Thalassemias occur in Mediterranean populations, the Middle East, parts of India and Pakistan, Southeast Asia, and Africa. However, thalassemias have also been observed in the homozygous state in persons of pure Anglo-Saxon ancestry, so ethnic origin does not preclude the diagnosis.
I think much of the confusion about which groups carry alpha thal is caused by the inability to accurately diagnose alpha trait without a DNA test. As more is learned, many assumptions are dropped. From an anecdotal point of view based on reports to this group, both alpha and beta thal trait are much more common than believed in non-malaria zones of the world, among ethnic groups not considered to be potential thal carriers. The difference in the rate of carriers between malaria zones and non-malaria zones may be somewhat explained by the fact that thalassemia carriers have had much higher survival rates during malaria epidemics, leading to a much higher concentration of thal carriers in these areas of the world. If this is part of the explanation, it becomes a matter of math and not solely based on ethnic groups. I don't think this has been considered in discussions about why thalassemia is not thought to exist among certain populations. It may have more to do malaria than any other factor. The trade off for survival in high malaria zones of the world has been a concentration of hemoglobinopathies in these areas, simply because those not carrying these defective genes have died during epidemics. Protection against malaria has been found in carriers of both alpha and beta thal, and carrier rates are as high as 75% in some areas where malaria has long been epidemic. With most of Europe not being malaria zones, the percentage of alpha carriers is only around 4% (http://emedicine.medscape.com/article/206397-overview). I'm sure a mathematical progression could be developed that would show and predict the changes in percentage of thal carriers over thousands of years of malaria epidemics, that would show how a single digit percent of carriers could eventually become a majority of the population, as non-carriers perished in epidemic after epidemic.
There is a complete explanation of lab testing for alpha thalassemia at http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/Alpha%20Thalassemia%20HBA1%20and%20HBA2%20Common%20Gene%20Deletions.pdf
This may help your doctor understand which specific test to order.
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Andy,
Thanks so miuch for the references. I'm trying not to get my hopes up too much since I know my chances of having alpha thal and HgH in particular would be so slim, but it would certainly help solve a lifelong mystery! I have three other genetic diseases which muddied the water for so long, but I think we are finally accounting for all the strange symptoms that can be attributed to each and the hemolytic anemia is the last one to be confirmed with an actual name.
I did a search on alpha thal in Britain and came across an older paper by Dr. Douglas Higgs:
http://www.ncbi.nlm.nih.gov/pubmed/2986751
I emailed him to see if they have any kind of registry with updated statistics on specific mutations associated with the British.
I'm glad to hear you feel the same way about iron therapy...I have had really good results taking a powdered beef liver extract every day (with wheat grass). My hemoglobin went from 7 to 12 in 5 months and stayed there until I got RSV pneumonia that was very prevalent here in both adults and children in March. That started the whole hemolytic cascade again and the parvo reactivated. I contracted the Parvo Virus B19 a few years ago from a transfusion which really was necessary to save my life, but what a crummy virus to get when you already have hemolysis! In the UK they screen donor blood for parvo, but not in the US. My immunologist specializes in treating chronic parvo that tends to take up residence in the bone marrow in some people and he wants to do IVIG therapy, but just like iron IVs, I'm nervous about a hemolytic reaction from the increased oxidative stress.
I have been taking IP6 because it suppresses angiogenesis which helps with cancer and the proliferation of cells in pulmonary hypertension. That, vitamin D and the pycnogenol are the primary treatments I'm using and they're working well. I had come across this study on pycnogenol that might interest you related to its effects on PH and NO production:
http://www.ncbi.nlm.nih.gov/pubmed/2986751
Jan
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Interestin. Need to read a few more times though.
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I just watched a great video presentation on pulmonary hypertension and thalassemia. Even my pulmonologist who is supposed to be one of the best in the country has no clue about this.
Here's a link to the interview with Dr. Claudia Morris and some information on a clinical trial:
http://www.thalassemia.org/index.php?option=com_content&view=article&id=243:pulmonary-hypertension-in-thalassemia&catid=1:latest-news (http://www.thalassemia.org/index.php?option=com_content&view=article&id=243:pulmonary-hypertension-in-thalassemia&catid=1:latest-news)
On the right under her picture is a link to a video presentation from last October's Cooley's Anemia Foundation Symposium:
http://www.thalassemia.org/index.php?option=com_content&view=article&id=250:videos-from-9th-cooleys-anemia-symposium&catid=1:latest-news (http://www.thalassemia.org/index.php?option=com_content&view=article&id=250:videos-from-9th-cooleys-anemia-symposium&catid=1:latest-news)
This is really exciting to me since no one has been able to figure out why I developed pulmonary hypertension. The main drugs used to treat it, including Sildenafil (which is the drug used in Viagra), are contraindicated for me because of another genetic condition. My cardiologist suggested trying L-Arginine to increase nitric oxide levels, but I didn't do well with that - it raises insulin levels and caused hypoglycemia for me. But I found that L-Citrulline which is another amino acid related to nitric oxide synthesis doesn't affect me adversely. It has made a huge difference in my heart and pulmonary functon. I'm only taking 200 mg a day - that's not even a full capsule. If I take more my vessels are too relaxed and my blood pressure drops. Even at that low of a dose my BP went from an average of 110/70 to 80/60. I was sleeping all the time so I divided it into two doses a day and am doing fine.
Jan
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I was at that lecture. At first, I wondered why a non-specialist was giving the talk, but her talk was excellent and I hope all the thal specialists there were paying attention, because as thals are now growing older, pulmonary hypertension is becoming a big issue and its prevention and treatment are key quality of life issues, as well as a matter of survival. PHT kills and if it can be prevented and/or treated, thals will survive to even older ages, perhaps even approaching a normal lifespan, as long as the other components of their treatment programs are followed. There are many causes of PHT in thals, as mentioned in this presentation, but in the end, depletion of nitric oxide levels are at the center of PHT. I also think we need to pay attention to the findings of PHT in many children. This is something that needs to be addressed from young age and supplements can be a part of the strategy to prevent PHT. The mention of finding less PHT in patients who used hydroxyurea was also interesting and I would like to know if L-carntine supplementation was common in this group, or if hydroxyurea is a preventative on its own. I suspect it is because it does slow down the production of bad red blood cells, which does mean less hemolysis, which is one of the primary causes of PHT in thals.
Finding what works for you to restore nitric oxide levels can be a trial an error experiment, as what Jan has experienced and different supplements may need to be tried to find what is suitable for each patient, but in the end, this effort is very important, so I encourage all to pay attention. I have long suspected that it is not only thal intermedias and majors who have PHT, but from the symptoms regularly mentioned by thal minors, it is also minors who may be affected by PHT. I would love to see a broad study of this in older thal minors. My suspicion is that minors do often experience PHT, but not with the same severity as intermedias, and even though it may not threaten the lives of minors, it does cause real quality of life issues among minors. I have no scientific evidence to support this assertion, but since no studies have been done, I cannot discount the possibility of widespread PHT in thal minors, especially as they age, and especially since they often describe the symptoms of PHT as their own symptoms. I really think all thals from minor to major can benefit by increasing nitric oxide levels. L-carntinie, L-arginine, L-Citrulline are all supplements that can be tried.
I would love to hear from any thal minor diagnosed with even mild PHT. I brought this issue up with Dr Wood at Singapore and he did seem intrigued by the possibility, so I do not feel like this is just some wild guess. I do believe that minors do often exhibit symptoms of many of the ills that befall majors, but to a lesser degree, and this does need to be investigated.
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Crazy year . . .
First diagnosed with aortic aneurysms, then told that I have HHT (Osler-Weber-Rendu), scheduled to have my 7+ PAVMS (Pulmonary arteriovenous malformations) embolized -still trying to confirm the CAVM (cerebral AVM) that showed up on the dynamic MRI - however, just before the embolization, bubble echo ordered . . . and PHT detected. Now it's time for the heart cath. and a million other things to address =(
I actually found this discussion board because I, like you, was interested in the implications of connecting the two.
Thank you for your time.
Ohh -- and I do have TM.
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I am sorry to hear about this, but wish you luck. Please keep updating and welcome to the site
Manal
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Im curious about this...even though 10 years ago I had an echocardiograpm and ekg's
Some morning I quickly run out of breath.. and need to lean on stuff
But it can go away and I even run around the block with the dogs and quickly and easily gain my breath when I get back home
It seems like this is only some days and its always in the morning
Happend a few days ago and what I tried was getting on the exercise bike and even though at first I thought I would fall over..it eventually lead to me getting over it for the rest of the day
*shrug
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PHT is often associated with HHT, so it would be difficult to isolate thal minor as a contributor, but since there are many causes of PHT, it is still possible that both conditions are contributors.
A 2008 study supported the use of embolisation to treat PAVM's. http://www.ncbi.nlm.nih.gov/pubmed/18385173
Eur Respir J. 2008 Jul;32(1):162-9. Epub 2008 Apr 2.
Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure.
Shovlin CL, Tighe HC, Davies RJ, Gibbs JS, Jackson JE.
NHLI Cardiovascular Sciences Unit, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK. c.shovlin@imperial.ac.uk
Comment in:
* Eur Respir J. 2008 Jul;32(1):15-6.
Abstract
Increasing evidence supports the use of embolisation to treat pulmonary arteriovenous malformations (AVMs). Most pulmonary AVM patients have hereditary haemorrhagic telangiectasia (HHT), a condition that may be associated with pulmonary hypertension. The current authors tested whether pulmonary AVM embolisation increases pulmonary artery pressure (P(pa)) in patients without baseline severe pulmonary hypertension. P(pa) was measured at the time of pulmonary AVM embolisation in 143 individuals, 131 (92%) of whom had underlying HHT. Angiography/embolisation was not performed in four individuals with severe pulmonary hypertension, whose systemic arterial oxygen saturation exceeded levels usually associated with dyspnoea in pulmonary AVM patients. In 143 patients undergoing pulmonary AVM embolisation, P(pa) was significantly correlated with age, with the most significant increase occurring in the upper quartile (aged >58 yrs). In 43 patients with repeated measurements, there was no significant increase in P(pa) as a result of embolisation. In half, embolisation led to a fall in P(pa). The maximum rise in mean P(pa) was 8 mmHg: balloon test occlusion was performed in one of these individuals, and did not predict the subsequent rise in P(pa) following definitive embolisation of the pulmonary AVMs. In the present series of patients, which excluded those with severe pulmonary hypertension, pulmonary artery pressure was not increased significantly by pulmonary arteriovenous malformation embolisation.
PMID: 18385173 [PubMed - indexed for MEDLINE]Free Article
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How are you doing now? Welcome on board.
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Hi All
My 16 year old daughter has been test for pulmonary hypertension.
The tests that were proformed were echocardiogram and ultra sound of the heart. Her tests were clear.
She is not a Thalassemia Minor.
The reason for testing was due to fainting while exercising. She has lower blood pressure 80/40.
According to her doctor fainting while excercising can be very serious and should alway be checked out of a doctor.
Regards
Catherine
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I have had a transthoracic echocardiogram (TTE), and 24 hour holter monitor from the cardiology dept at the local hospital. except for some tachycardia during the TTE, the high heart rate i was feeling in exercising ( along with lightheadedness, nausea, dizziness, etc i was counting 180+ heart rates ) was only getting to 165bpm while exercising - though it was just walking down nd up a hill, so to me, that seems excessive, but apparently its normal but high. I asked the cardiologist if it could be PAH but he said my thalassemia ( cos its minor) couldnt possibly be causing my symptoms.
The TTE showed no abnormal structures apparently. They were also looking to see if i had an arrhythmia or left ventricular failure, neither which turned up.
So apparently i just have a naturally high heart rate. Im also one of those people that cant tolerate humid/hot places and gets lightheaded and faint.
That said, i have a slightly high BP of around 135/88 to around 145/110. Not worth the docs doing anything about. And i had pulmonary tests done to see if i actually had asthma ( or the allergy clinic got it wrong) and the ventolin didn't make a difference.
Symptoms aren't occurring as severely now thats its not summer here in Sydney, Aus.... so *shrugs*
PAH would account for a lot of my symptoms, so I'm not sure how thorough the Cardiologist was to actually rule it out, but i got the impression he thought i was wasting his time. The registrar just told me cut out caffeine etc.
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I'm finding this whole discussion really interesting!
I was wondering if another possible connection to PHT in Thalassemia-minors may be attributed to Protein C or Protein S deficiencies? We believe I am the carrier for Beta-Thal minor, I also tested positive for Protein S deficiency (and one MTHFR mutation, that alone should not contribute to thrombosis). I have read many abstracts of studies that think there may be a link between repeat pulmonary embolisms developing into PHT in Beta-Thal intermedia/major due to the existing Protein deficiencies. This may explain why the ped. hematologist was more concerned with my Protein S deficiency in relation to the possibility of Beta-Thal minor in our toddler!
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I have brought up this topic previously and have had no luck finding any thal minor who has been tested or was willing to be tested for Pulmonary Hypertension (PHT or PAH). ...
Even mild PHT causes symptoms, so I am still hoping we can find a few minors who have regular symptoms who will ask their doctors to be tested for PHT. I want to know if anyone is found to have even mild PHT. Minors are ignored by doctors and if I could bring some reports of PHT in minors to certain doctors that I regularly engage at conferences, it may serve to get some investigation of this moving ahead. ...
Hi, Andy!
New to this forum, I'm still reading and learning much from the experiences of other members Thank goodness this community exists! I really was beginning to doubt myself.
First of all, I'm a 57-year-old woman with a 44-year history of migraine, and a diagnosis of B-thal minor 35 years ago after presenting repeatedly with symptoms of fatigue and malaise.
I've suspected for some time that my recent worsening symptoms may be due to PHT, but I despair at getting my doctors at Group Health HMO to take me seriously. The hematologist just last week verified that I'm a "thalassemia carrier." He reiterated that "the body compensates," that carriers of the trait "do not experience symptoms," and thus my symptoms "have nothing to do with anemia."
And apparently nothing to do with hypothyroidism, or insulin resistance, since my lab results over the past ten years fall within the Group Health lab's normal ranges -- which are, of course, outdated!
Since 2006, I have been telling Group Health doctors about my symptoms: shortness of breath (which lately happens even while I'm lying down resting), dizziness, faint nausea, palpitations (very strong heartbeat, but with a slow pulse), and frequent whooshing sounds in my left ear which my primary-care doctor diagnosed as "pulsatile tinnitus." I suspect that my doctors now believe I'm a hypochondriac.
I've experienced two emergency episodes during the past two years, the first of which was diagnosed as TIA (along with random hyperglycemia) by non-HMO doctors at a private hospital, but which the Group Health doctors later concluded was merely a migraine. My primary-care doctor, after consulting with an endocrinologist, wrote off the hyperglycemia as resulting from the stress of being hospitalized.
The second episode, a year after the first, was treated as a potential heart attack by the same hospital, but again Group Health doctors later concluded there was nothing wrong with my heart and speculated again that my symptoms were migraine related.
So, all of this is to ask you: Do you have any suggestions as to how I might get my doctors to consider testing for PHT? Or should I abandon the HMO route?
All best wishes,
--Clare
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Hi Clare,
I have grown to have very little faith in doctors when it comes to thalassemia minor. It's sad, but almost every doctor on earth will tell you that thal minor has no symptoms, but thal minors will tell you otherwise. If you are to find a way to get tested for PHT, it will most likely have to be outside the context of thal minor, if you hope to have any doctor order the test. Even then, results can be inconclusive for mild PHT.
First thing. You are not a hypochondriac and you are not imagining anything. Your symptoms are all commonly reported by minors. Even TIA seems to be more common than it should be. One of our moderators has recently had the whooshing in the ears. These things are real, whether or not the limited training of any doctor will accept it. The frustration of thal minors was recently expressed in one of the Facebook thal groups I administer, and I was a bit surprised to see comments from a board member of TIF (Thalassemia International Federation) ask about why the problems of minors are ignored. My surprise was because officially, the orgs do not acknowledge that thal minor is symptomatic. As you can see from the numerous reports here, your story is unfortunately, not unique.
What you will find is that you have to take matters into your own hands, as you will get very little help from a medical establishment that goes by outdated and incomplete information regarding thal minor. I will give some suggestions.
Regarding TIA, these are most likely caused by something your body cannot adapt to, although I find it hard to believe that anyone's body adapts to low Hb, as doctors claim. Low Hb is only part of thal minor. Ineffective erythropoiesis occurs in thal minors and this leads to the production of small, pale red blood cells that can be seen in any blood test, mixed in with the normal RBCs. These defective red cells will eventually be filtered out by the spleen and this is why the spleen is often enlarged in thal minors and why gallstones are also more common. But before they are filtered out, their irregular shape can cause problems in the blood vessels, as they don't always pass through easily. I suspect this is the cause of TIA in thal minors, as short term blockages lead to a mini stroke. I cannot stress this enough. Stay well hydrated. Drink plenty of water. Poor hydration causes thicker blood and this should be avoided. Take 400 IU natural vitamin E complex every day. This is one of the most important things you can do to combat the effects of these defective red cells. E will also help maintain your good RBCs, while keeping your blood thinner, while it fights oxidative stresses. Taking vitamin C with E helps E to work better, as C restores the antioxidant properties of E once it has been already used. I have taken 400 IU daily for 37 years. I am a firm believer.
Regarding heart palps. The heartbeat is regulated by calcium and magnesium working together. Each controls one side of a heartbeat. A deficiency or imbalance can lead to heart palps. I suggest a cal/mag supplement of 1000 mg calcium and 500 mg magnesium daily. For these minerals to be effective, vitamin D must also be taken. D deficiency is the most common vitamin deficiency on earth, mostly because we do not get sufficient sun. If your level has not been tested, get tested. If it is below 35, it needs correction (many doctors are going by old levels, but 35 is the new minimum). If your level is in the normal range, I would still suggest 2000 IU daily to aid in mineral absorption. If your level is low, it will require a minimum of 5000 IU daily. If extremely low, doses of 50,000 IU once weekly are often used. I also suggest using sea salt in your household, and it is OK to use salt when you stay well hydrated. Sea salt contains many trace minerals that are not found in table salt.
Regarding PHT. If you were diagnosed, you might be prescribed something like Sildenafil (Viagra). The effect of the drug is to add nitric oxide, NO to the blood vessels, causing them to be more relaxed and elastic, which helps the blood to flow more normally and lowers the pressure in the pulmonary artery. I have already mentioned vitamins C and E and magnesium. These are all instrumental in the health of the circulatory system. To increase NO content, it is suggested that an NO inducing supplement be taken. L-carnitine, L-arginine or L-citrulline should be used. 1000-2000 mg daily.
Then the most basic of all is folic acid which is required to build healthy RBCs. 1-2 mg daily. This is universal in thalassemia.
Most supplements can be found reasonably priced online at companies like Puritan.
There is no easy solution to the problems of thal minor. It is important to understand that the effects of defective RBCs and the unmatched alpha globin chains that form tetramers, cause damage to the body through oxidation. This depletes many vitamins and minerals and NO stores. Antioxidants are required to fight these processes, so a good diet is also essential, including fresh fruits and vegetables. Foods like blueberries and beans are good sources of antioxidants. Green leafy vegetables and watermelon are good sources of NO. Antioxidants and hydration can be keys to avoiding more incidents. I believe that many sudden illnesses are set off and complicated by low hydration at the moment of onset.
I don't know if doctors could do much for thal minors even if they admitted there are symptoms. I think that minors have to realize that they need to take steps to optimize their health. A good diet, supplements and mild to moderate exercise will all help. I don't think any symptomatic minor will ever be without symptoms, but it is definite that minors can have a positive effect on their own health by being proactive.
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Dear Andy,
I cannot thank you enough for validating my symptoms and confirming that I’m not a hypochondriac! Your words literally brought tears to my eyes. As did many of the posts I’ve read this week at Thal Pal, which also serve to fuel my frustrations with short-sighted doctors – even as I try to practice being nonjudgmental about their ignorance.
Thanks for the suggestion re the PHT test. Because I’m being treated for OSA with a dental appliance, and since apnea can lead to PHT, I can ask for the test without mentioning thalassemia then. Nothing ventured, nothing gained… :-)
I hear you loud and clear about taking matters into my own hands! And you said a mouthful with, “there is no easy solution to the problems of thal minor.” The more I read from those with this disorder, the more I realize just how complicated the situation can be for each individual.
In my case, migraines are an additional challenge!
One teensy example: watermelon. Despite its refreshing taste and lovely antioxidants, this fruit can also trigger migraines. The longer a watermelon hangs around, the greater its tyramine content. And amines can cause debilitating headaches in some folks. So, when I eat watermelon, or other migraine triggers, I eat small amounts, and then take medication in hopes of staving off a full-blown migraine attack.
Migraine certainly has taught me the value of hydration! To the point that I tend to drink so much water that it flushes electrolytes, which means I need to take mineral supplements every day – including small amounts of calcium and magnesium. Small amounts, since I also eat lots of almonds, black beans, Greek-style yogurt, cheese, and other foods high in these minerals.
The real trick is to maintain balance, since the foods I love to eat can lower blood pressure. Mine is lower than normal to begin with, around 105/65, though the diastolic often measures in the 50s. So the thought of taking sildenafil for PHT gives me pause, since anything that relaxes my blood vessels at-rest more than they’re already relaxed not only can cause dizziness and fainting, but can also trigger an awful migraine. Many thanks for mentioning the amino acids – I’ll research them further for any side effects re migraine.
Regarding vitamin D: As you mentioned, it’s absolutely vital. Truly a remarkable hormone! This, I discovered after being misdiagnosed with fibromyalgia several years ago. But my pains (knees and hips especially) went away after six weeks of sunshine and no rain, which is quite unusual weather here in Seattle, even during summer! So the proverbial light bulb clicked on above my head, I did some research, and then took matters into my own hands. ;-)
My blood level was 43, technically in the normal range, but I’ve learned that those normal ranges are often inaccurate for my body. So I’ve been supplementing with 3,000 to 4,000 IU of vitamin D3 every day for the past few years. My hips and knees continue to be pain free. Anytime I feel a flare-up of “fibromyalgia” at night, then I take 1,000 IU and go back to sleep within a few minutes. In the meantime, research has confirmed a significant link between fibromyalgia and vitamin D3 deficiency.
Here are only a couple of links on the subject: http://www.ncbi.nlm.nih.gov/pubmed/21894355
http://www.jpma.org.pk/PdfDownload/2395.pdf
(Trader Joe’s carries vitamin D3 which is suspended in olive oil, rather than in soybean oil. Soy, with its estrogenic properties, can be a problem for migraineurs. However, TJ’s vitamin D does contain gelatin, so it’s not a vegan product.)
As for another important electrolyte, salt: I add Himalayan pink salt (www.himalasalt.com) to certain foods. And, to help counteract goitrogens in my diet (broccoli, cabbage, potatoes) and “speed up” my thyroid function a bit, I take one-half tab of Icelandic kelp each day (about 112 mcg of iodine).
As for vitamin E, I’m hesitant to supplement, for a couple of reasons: (1) The foods I eat include vitamin E already, and (2) I take Exedrin Migraine to manage my headaches. EM truly is a wonder drug for me, though I understand that aspirin carries the risk of hemorrhagic stroke, and acetaminophen can cause liver damage. Thus far, I have no ulcers or other bleeding in my intestinal tract, so I don’t believe the aspirin is causing internal leaks that may be contributing to my anemia (Hb of 9 and Hct of 29). I’m researching silymarin (milk thistle) supplements to see if they might help without causing migraines.
In addition, my ferritin level is 150, which means that iron deficiency is not an issue. But there’s hemachromatosis in my family, which is why I keep a close eye on iron consumption. A few cups of decaf coffee and white tea every morning seem to maintain balance and avoid build-up. Of course, as with all things, moderation is key! For instance, I drank so much green tea back in 2004 that it caused iron-deficiency anemia, which took six months of supplementation with iron to correct. No fun.
As you implied, managing thal minor can be quite a balancing act!
There are other supplements I take (folic acid among them), and other issues I could talk about, but this message is growing far too long. Thanks so much for reading this far. I’ll post again later and on different subjects.
Andy, many thanks again for your response, for your suggestions, for your encouragement, and for all the work you’re doing on behalf of thal minors! You’re truly an inspiration.
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Greetings all . . .
I know this is an old post, I just wanted to check in again to see if you (Andy) every substantiated a connection between Thal Minor and Pulmonary Hypertension???
I commented on this discussion two years ago - shortly after being diagnosed with PAH. These last two years have been a whirlwind, but now I am off the transplant list and doing much better.
Interesting thought . . . during my first right heart cath, I was not a CCB (Calcium Channel Blocker) Responder. I would imagine that, if the lack of NO from Thal Minor would have been the cause of my PH, I would have responded??
Anyway -- just checking in with you all.
Take care,
Joshua
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I am currently out of town, but intend to reply to this post when I am back.
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Most PHT patients do not respond to Calcium Channel Blockers, and it is a therapy that is difficult to control in terms of side effects. But sildenafil has shown great promise in treatment of PHT in thals. I doubt that your response to CCBs can prove anything about whether your PHT is related to NO depletion or not. In recent years, researchers have shown that NO depletion and iron load are directly related to the occurrence of PHT in thal majors and intermedias. The NO depletion is largely related to the effects of hemolysis, which does also occur in minors. What it basically comes down to as a possibility in thal minor is the level of arginine depletion that is caused by hemolysis. If minors do get mild PHT it is most likely a result of arginine and NO depletion, and replacing the arginine remains a good strategy.
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My Rheumatologist is sending me to a cardiologist to rule out pulmonary hypertension b/c of oedema in ankles/ legs. I think she said it will involve an echo. I have a lot of the other symptoms mentioned but I'm not sure they would treat me if found it. Seems ciclosporin doesn't go well with most medicines.
Will post results once I get them.
Zahra
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Clare,
You mentioned fibromyalgia, can you please tell me more about it?
I'm thal minor, hb usually 9. I've suffered migraines for at least 25 years, the last 15 being almost daily. And i have low pain tolerance, i'm always in some kind of pain. Joints hurt sometimes but it vanishes or years by itself. I know that long term anemia is a contributor to fibromyalgia, and fibromyalgia can explain MOST of the symptoms we all have. My main problem is severe fatigue and no strength. And its the same everywhere - doctors do not take me seriously, the ones that do, have no solutions.
I also want to know how one tests for PHT? I have had an ecg done, but no more heart etc stuff.
Thnx.
:)