Is Pulmonary Hypertension Common in Thalassemia Minors?

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Offline Answers4N

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #30 on: May 28, 2012, 07:24:31 PM »
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!

Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #31 on: July 16, 2012, 02:43:43 PM »
...
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 

All best wishes,
--Clare  :-)

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Offline Andy Battaglia

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #32 on: July 17, 2012, 03:56:38 AM »
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.
Andy

All we are saying is give thals a chance.

Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #33 on: July 19, 2012, 05:46:37 PM »
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.

« Last Edit: July 19, 2012, 07:52:47 PM by Clare MacQueen »
All best wishes,
--Clare  :-)

Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #34 on: July 25, 2012, 02:24:55 PM »
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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Offline Andy Battaglia

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #35 on: July 28, 2012, 08:41:16 PM »
I am currently out of town, but intend to reply to this post when I am back.
Andy

All we are saying is give thals a chance.

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Offline Andy Battaglia

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #36 on: August 04, 2012, 05:10:31 PM »
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.

Andy

All we are saying is give thals a chance.

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Offline zahra

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #37 on: June 05, 2014, 06:41:39 AM »
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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Offline Prets

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Re: Is Pulmonary Hypertension Common in Thalassemia Minors?
« Reply #38 on: June 11, 2014, 11:40:13 AM »
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.
:)
Symptomatic Beta Thal Minor.

 

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