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Old 02-09-2009, 07:25 PM   #1
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May-Hegglin/MHA

I was diagnosed with May-Hegglin when I was 17 years old under some very interesting circumstances. I had an emergency surgery. My platets dropped to only 11,000 yet I had no bleeding out. The doctors were baffled and sent me for testing. Since that time my platets have never numbered higher than 70,000. I was tested for any and everything you could imagine and the Dr finally decided that I had MHA. Ok, the twist is that even though this is a genetic disorder, the tests on my family were all negative. So I was declared as a new mutant, yes wonderful for a teen.

I don't know another single person that has this disorder. The older I get the more questions I have. I will be turning 40 this year and I really would like to have atleast one person to compare conditions with.

I have always bruised easily and I understand that part of the disorder but I have noticed that as I age common activities bruise me that didn't when I was younger. For example, some door knobs bruise my hands when I turn them, Bottles and jars are getting harder to open because of bruising, not because of strength.

I would like to know if that is normal and to be expected when aging with this disorder.

Please help and befriend.

 
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Old 02-10-2009, 04:27 AM   #2
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Re: May-Hegglin/MHA

Quote:
Originally Posted by Kreismanis View Post
...Ok, the twist is that even though this is a genetic disorder, the tests on my family were all negative. So I was declared as a new mutant, yes wonderful for a teen.

I don't know another single person that has this disorder.
Kreis,

Welcome to the boards....I'm going to stick my neck waaaay out here but here goes.

It sounds like your doctors gave you this diagnosis because they didn't know what else could be causing your symptoms...and I say this because of the "mutant" nature of your diagnosis and because of your age.

Other than your "labs", I have NO idea what your symptoms might be but I am going to make a suggestion...you may want to learn more about Lyme disease which is an epidemic along your coastline. Lyme is very difficult to diagnose, patients have a multitude of different symptoms and for that reason it is often considered the "great imitator".

I have found in reading these boards that many rare and unusual cases are not what they seem...the rare and unusual part is a doctor who knows what to look for.

Good luck and let us know how you fare.

Bethsheba


PS Lyme can lie dormant for years only to surface under times of stress like surgery, injury, unhappy times....

Last edited by bethsheba; 02-10-2009 at 04:28 AM.

 
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Old 02-10-2009, 07:56 AM   #3
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Re: May-Hegglin/MHA

Hi Kreismanis,

Putting May-Hegglin in this area of the boards is very appropriate as it certainly is a rare disorder!

One thing I always say is that often when patients have the impression that the doctor is "baffled", it's not usually the case. Platelets dropping with surgery is something that is seen quite commonly, and when it happens, rather than the doctor being baffled, s/he goes through systematic steps to figure out which one of the many possibilities could be the culprit.

The thing with May-Hegglin syndrome is that there are certain characteristic platelet abnormalities seen on the blood film and the diagnosis is usually confirmed by genetic testing. I wasn't sure about whether you were actually CONFIRMED to have the genetic mutation. Were you? If you were, well, then I guess you have the diagnosis right there, if you were NOT confirmed to have MH syndrome, there is another syndrome which is much more common in young women with low platelets and that is called Idiopathic Thrombycytopenic Purpura (ITP), which I am am very sure your doctors considered in the diagnosis.

ITP is an autoimmune disorder where the immune system decides to attack its own friends the platelets and can result in chronically low platelet counts. Usually the counts stay below 100 and above 30, but in times of acute stress (such as viral illness or surgery), the platelets can drop lower than that and put one at the risk of bleeding. ITP is somewhat a "diagnosis of exclusion" because you have to rule out other things before you call the diagnosis ITP. Things that are ruled out are: lupus and other connective tissue diseases, antiphospholipid antibody syndrome, HIV infection, heparin induced thrombocytopenia (if immediately after surgery) and disseminated intravascular coagulation (if after surgery or the person is VERY VERY sick). There are infections which can result in thrombocytopenia in isolation (i.e. low platelets) but they are usually viral. When other bacterial infections result in low platelets, they usually have effects on other aspects of the blood counts as well (i.e. on the red and white blood cells too) and there are usually signs of red cell destruction on the blood film (which would NOT be seen in ITP or MH).

If you have been confirmed to have the genetic mutation for MH then I guess the above was just interesting reading If you haven't been, you should probably be referred to a general internist or a hematologist who will be able to monitor you. Usually with ITP, unless you have active signs of bleeding, have a platelet count <30 or are going to surgery, no treatment is required. Treatment regimens usually involve courses of things like prednisone, dexamethasone or IVIg.

Also, if you DO have the mutation, it would be considered a "de novo" mutation which is relatively more common in blood disorders than other diseases, and usually manifest in younger people (such as yourself).

Last edited by harka; 02-10-2009 at 08:00 AM.

 
Old 02-10-2009, 04:21 PM   #4
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Re: May-Hegglin/MHA

I am so happy to have your reply. I had extensive testing at Emory Hospital in Atlanta that lasted atleast 6 months. I was tested for ITP and every thing else they could possibly think of. They also tested my parents, grandparents and a few of my aunts and uncles. They all had normal counts. I get a blood count every year since and I have ranged from 30 to 60 thousand platelets in each count. The platelets are giant and my white blood cells have the distinctive "blue" spots.

They believed that the severity of my infection, I had an ovarian cyst that twisted in my tube which caused gangrene, may have caused a mutation. My hematologist released me years ago. I have only seen him once since I was diagnosed and that was because I needed sinus surgery. I still watch for bleeding capilaries and am careful about head injuries, but it is the other annoying little things that I wish I could talk to others about.

Last edited by Kreismanis; 02-10-2009 at 04:23 PM.

 
Old 02-10-2009, 07:42 PM   #5
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Re: May-Hegglin/MHA

Hey again,

Mutations don't really happen the way you're describing. They're really just random errors that happen in DNA replication at the molecular level and if the error is not corrected, it can remain sustained in the genetic information and have lasting phenotypic effects. In your case, you probably had these blood problems prior to even knowing about it in your surgery. It just manifested at that time because bloodwork was done.

The fact you have giant platelets and what sounds like intracellular chromatin inclusions makes MH the likely diagnosis. Do you run in to a lot of bleeding problems?

 
Old 02-12-2009, 05:31 PM   #6
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Re: May-Hegglin/MHA

Quote:
Originally Posted by cgranulomatis View Post
Hey again,

Mutations don't really happen the way you're describing. They're really just random errors that happen in DNA replication at the molecular level and if the error is not corrected, it can remain sustained in the genetic information and have lasting phenotypic effects. In your case, you probably had these blood problems prior to even knowing about it in your surgery. It just manifested at that time because bloodwork was done.

The fact you have giant platelets and what sounds like intracellular chromatin inclusions makes MH the likely diagnosis. Do you run in to a lot of bleeding problems?
You know they said the same thing when I was being diagnosed. But as an even younger child my blood was tested often for anemia and even had blood counts done that did not show any of the signs that I had after my infection. I don't do anything the easy way or the most common. (LOL)

My bleed time tests showed that I can bleed about 5 minutes longer than normal. I find that as I am aging I bruise when opening jars or door knobs and more simple things like that than I used to. I have the typical bleeding of the gums when I brush and floss and I know that would be worse if I weren't nearly obsessive about doing it. (I hate the speeches from the hygenists) The only other thing that I can say about my condition is that I have to get enough rest. I get fatigued very easily if I am not careful.

 
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