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Dr. Andrew Rynne

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Exp 18 years

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Parents have hemochromocytosis. Family history of diabetes. How much risk i have?

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Dr. Robert Galamaga

Oncologist

Practicing since :2002

Answered : 2569 Questions

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Posted on Fri, 4 Jan 2013 in Blood Disorders
Question: Both of my parents have hemochromocytosis. This recently came to light when my dad was diagnosed. His doctor is having him donate blood and some other stuff. My father also has diabetes. His brother has type II diabetes also. And their father died in his fifties from a "stroke".

How does this affect me?

I have been anemic since I was about 10. Which is the opposite, right? I heard that means I could be storing iron in other places in my body. Last time I had labwork done the MD asked me if I drink alcohol - I guessing that my liver enzymes must've been off. No sign of diabetes.

HGB from 9 to 12. I took Vitamin B12 and it got my HGB to 12. But, i have stopped taking it because I don't know if its contraindicated. I bruise very very easily. The bruising is at its peak. My hair is falling out.

Im 31 y.o caucasian female. Hyperpigmentation on face and some other places. I'm very fair skinned (see through kinda skin) that always has a pink tint and is blanchable all over my body.

I took birth control 12 years ago for 1 year. My periods are med to mod heavy. First day spotting. Then, 1.5 days of heavy bleeding. then regular light flow for about 3 days.

I'm making an appointment with my PCP, but I'm wondering what all this means in the mean time.

I am an RN in the Cardiac XXXXXXX Lab.

I'm not sure what other information I could provide. . . let me know if there is anything else you need to know.


Also of note, may be -

paternal side - dad has the Hem disease, type 2 diabetes, low testosterone levels recently, decreased mood - had to start celexa 2 yrs ago, decreased to no sex drive. My dad has had arthritis for years, recently - random falls.

uncle - has had 2 episodes of colon CA with successful treatment, diabetes II

Maternal side -

Grandfather - MI, CAD, CABG x 4vessels, prostate CA with bone mets. Deceased

Grandmother - Cardiomyopathy (not sure of cause). Deceased

uncle - had testicular CA at 20y.o, then liver disease and liver CA with mets in late 40's. Deceased

Aunt - ?

mother - Hem dz (not sure how she was diagnosed), polycystic breast disease, PNA, benign uterine tumor, "horn" uterus (can't remember official name of disorder) - 2 uterine cavities, but 3 successful pregnancies - the horn shaped uterus was just recently diagnosed with the tumor (she is 66), post partum depression, did not have menopause til mid 50's. And a lot of other things . . .
doctor
Answered by Dr. Robert Galamaga 4 hours later
Hello and thank you for sending your question.

Your question is a very good one and I will work on providing you with some information and recommendations.

First of all if both of your parents have hemochromatosis this does place you at increased risk. There is a special blood test which can be performed to determine if you have the gene which is responsible for this disorder.

The anemia which you have described is most likely secondary to blood loss which occurs during your period. However we cannot assume that this is the cause until you have a full and complete consultation. Your doctor should check blood levels of iron as well as vitamin B12 and fully casted. If there is some degree of iron deficiency or vitamin deficiency you should continue taking this supplementation over a long term.

It is possible to have hemochromatosis and have some anemia if you are having a excessive amounts of blood boss through menstruation. This is why I think you still need a full consultation and testing for this disorder.

Regarding the other symptoms you have been having those do not necessarily indicate any obvious disorder. I think it would be reasonable to also check your thyroid function. Thyroid dysfunction can cause a number of symptoms including hair loss. Also you might ask your doctor to check your vitamin D level as this can sometimes cause a myriad of different symptoms If the vitamin D level is low.

Thanks again for sending your question. Please let me know if you have any additional concerns regarding this discussion.

Sincerely,

Dr. Robert
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Robert Galamaga 1 hour later
I was told by a higly respected attending endocrinologist that my thyroid felt "very full" to the touch. He ordered a thyroid panel, and the results were all at the border of normal/abnormal.

I first had these symptoms 12 years ago . . .

What is the absolute extreme myriad of tests that you would have done at his time?

(I am a nurse. And I have read all the disclaimers)

I would like to know what my next step should be.

Should i be under the care of a hematologist?

doctor
Answered by Dr. Robert Galamaga 8 hours later
Hello and thank you for your follow-up question.

I really do think that somebody needs to explain to you why your hemoglobin is low. As I mentioned most common cause would premenstrual bleeding but again all other potential contributing factors need to be ruled out including gastrointestinal bleeding as well as iron or vitamin deficiency.

As far as additional testing goes it would be reasonable to repeat if I XXXXXXX panel and if your thyroid still feels full it would not be a bad idea to have an ultrasound performed just to evaluate the gland itself.

Also it would not be a bad idea to have a viral panel performed again to exclude the possibility that you might have a chronic viral infection that is contributing to this.

I know these are physical symptoms that you are having. I don't think this is something that is just in your head has some people might have suggested to you in the past. There certainly is a psychological factor which patients who have chronic debilitating symptoms must deal with but I do not again think this fully explains what has been going on.

I don't think you need to see a hematologist unless your general physician cannot explain to you in clear detail why your hemoglobin is low.

Thanks again for sending your question. I am of course available if you have any additional follow-up concerns.

Sincerely,

Dr. Robert
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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