hemochromatosis

My mother carried a hemochromatosis .  We have a few mutations in our family which I have  (EDS III, BRCA2).   I odn't know if I carry it.

My concern is cardiovascular.  I am diagnosed with an atypical  uni-lateral retinopathy (called AZOOR).   They see atypical arterial vessels that are attenuated.  I also have heart palpatations, heart discomfort/pain that happens 1x/2 months, and an infrequent 2 - 3 'gushes' in my heart.  

I, as well as my daughter, have had problems with iron.  I don't eat a lot of meat and I do drink a lot of tea and my daughter has heavy periods.   We have low normal hematocrits and a ferritn level of 6.... until corrected with supplementation.   We both don't experience normal iron depletion symptoms.  We are never out of breath nor dizzy upon rising etc.  I do notice mood changes in her and muscle cramps  and feeling cold in me are alleviated we iron supplementation.  

I know low iron is not a usual symptom of hemachromatosis.   However, our iron levels are not classically defined by blood tests.  Thus, I wonder if my attenuated blood vessels in my retina may be a window to what is happening in the rest of body and are complicated by possibly being a carrier of the hemachromatosis gene.

I will be seeing a cardiologist  in January who treat children and adults with congenital disorders, Marfan's, and/or connective tissue disorders (@ teaching facility).  

Do you have any information to add to this scenario and how do you think I should proceed?

[Lisa Kessler, MS, CGC]

It sounds like you have lots going on in yourself and in your family.  You mentioned that there are a couple of genetic conditions in your family such as EDS III and hereditary breast and ovarian cancer (BRCA2).  It is very important to be evaluated for these.  It may help you to meet with a genetic counselor who can take a detailed family history and review whether or not you are at increased risk to inherit these conditions in your family.  As you know, Ehlers-Danlos syndrome III (EDS) or hypermobility type is an inherited condition that affects the connective tissue and causes joint hypermobility and stretchy skin.  A medical geneticist is an appropriate physician who can evaluate you for EDS, and you can find one through the American College of Medical Genetics.  Hereditary breast and ovarian cancer syndrome causes an increased risk to develop several types of cancers and genetic counseling and testing is available for this condition.  In order to find a genetic counselor, please see the website for the National Society of Genetic Counselors or companies like mine.

You mentioned that your mother is a carrier of one copy of the H63D mutation.  This is very common and is generally not associated with an increased risk for heart disease.  Recent studies evaluated people who carry mutations in the HFE gene (like H63D), and found no association between carrying one copy of this gene and heart disease.  As you stated, hemochromatosis is a condition of iron overload, where the body absorbs too much iron from the diet.  Hemochromatosis is an autosomal recessive condition and someone who has 2 mutations has an increased risk to develop iron overload.  Someone who is a carrier for one gene mutation has a 50% chance of passing it on to each child.   If your father also carried a gene mutation for hemochromatosis, then you would have a 25% chance of inheriting an increased risk to develop the condition.    

AZOOR is a rare condition that affects the retina; the cause of the condition is not known.  

I am glad to hear that you are being evaluated by a cardiologist for the symptoms that you have described.   I hope that the appointment is helpful to you in determining a cause for your symptoms.  

[sandysandy]

I looked up the paperwork and she had one copy of H63D.

[sandysandy]

Thank you for your reply.  

I've had breast cancer (as have two of my siblings and multiple cousins ... we have large families so it shows so clearly in my generation so that any doctor would be able to see it).  In visits to two geneticists at Boston teaching hospitals, I was determined to have BRCA2 and EDS III.   I was not clear when I said "I don't know if I have it"... I was referring to the hemachromatosis.

I went through a retinal specialist and a neuro-opthamologist and received the AZOOR dx.  I know it is hard to understand because of where I was when I received this diagnosis, but I don't think they have nabbed it.   Specialist and teaching hospitals sometimes have disadvantages and I think in my case and in this particular situation, I was running into this.  They kept on trying to "not listen" to or explain some of my symptoms because it did not fit the picture.  Even the AZOOR diagnosis doesn't really fit.  They are testing for CAR (cancer associated retinopathy) but doubt that is the case because they don't see a problem (through their instruments and testing) in my right eye (the good eye).  However, I have symptoms there.  I have a hunch that they are testing for a panel of things but it is this doctor's philosophy that I don't need to know everything.  Unfortuantley, I know too much so that just leaves me to worry instead of relying on his "fatherly" stature.    They've also discounted a previous diagnosis (documented in both eyes) of optic neuritis (by a respected opthamologist) and have not repeated or performed visually evoked responses or an MRI.  It's absolutely crazy if you ask me.  So I don't believe the AZOOR diagnosis .. at least not yet.  I just think they need a word that best describes it for them... for the time being.  In the meantime, I have been churned out of the system and home with my eyes hurting and my vision being compromised.  The first thing I am doing is changing my primary care doc.... who should be seeing me through this process.    The fact is that my case is complicated and the results could be serious in 6 months to a year.  It may very well be that one specialist may not be able to figure it out.

Sorry... long story but in all of this I am wondering, with humor,  if I've just become the family repository for genetic mutations (it's sort of like going into genealogy without any effort)  or if there is some interaction between them in the genes.  If there is, I suspect from your answer that I am probably ahead of science with my inquiry. No/yes?

I have also read that people with EDS III can have symptoms that overlap other subtypes.  Of concern, of course, are vascular problems.  In my family, my mother had MVP and bruised easily.  I have had bruising but not so much that others recognize it.  It is mostly small (although I had a huge one on my inner thigh in high school) and many times in my fingers.  It seems my joints spread there and cause small bleeds in the capillaries.  My clotting factors are tested and fine but I tend to bleed longer or cuts open up and bleed again.  A dermatologist asked if I had taken vitamin E due to prolonged bleeding after removal of a small mole.  I've had "bleeders" on abdominal laparoscopic surgery.

I have read that a significant number of EDS types are retyped and that EDS III can include aortic distention and aneurysms.  Since my mother lived until she was 72, I am not concerned about having the vascular type.  But since we were just recently diagnosed and EDS can present differently in each family member, I am wondering if it is worthwhile to just test everything that is known in EDS just so we know I don't have any of those.... instead of waiting for a new symptom to appear.  What do you think?  Do you know how much a "panel" of such testing would cost?  do you know why doctors just don't do this automatically?