Suggest treatment when diagnosed with haemochromotosis

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Posted on Mon, 15 Jun 2015 in Liver and Gall Bladder
Question: I have just been diagnosed with haemochromotosis and the doctor has no idea how I have developed the condition as it it not in my family and my blood tests were fine until 2006 when things apparently started to change. I have CREST Syndrome, Barretts Esphogitis and Protien C deficency and has been diagnosed over 20 years. I am a vegitarian and do not drink x. My question is how did I develop Haemochromotosis?
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Answered by Dr. Shafi Ullah Khan 1 hour later
Brief Answer:
Could be genetic, shows up late mostly silent, metabolic syndrome,

Detailed Answer:
Thank you for asking

I read your question and i understand your concern. Hereditary hemochromatosis is not the only hemochromatosis. It is a condition of iron over load and it can happen in many different conditions apart from hereditary traits like metabolic syndromes, raised lipid profile parameters, obesity , diabetes hepcidin proteins deficiency etc.

It could also be genetic as this is autosomal recessive trait and don't show quite often unless in adulthood after decades of absorption with some super added risk factor i mentioned above .

CREST syndrome itself leads to storage disorders as it affect hepatobiliary tracts and causes liver parenchymal distortion. Protein C deficiency again is a hypercoagulable state and it involves liver too and also hematological iron over load is significantly higher.

Nutshell it is likelihood of showing up of silent mutation of hemochromatosis ( it usually shows up in adulthood) triggered by worsening factors of metabolic derangements. There is only one way to confirm. genetic markers and liver biopsy.

Irrespective of how you got it, you need to manage it. Chelation, phlebotomy and dietary preferences avoiding iron rich foods is the key.

I hope it helps. Take good care of yourself and dont forget to close the discussion please.

Regards
Khan
Above answer was peer-reviewed by : Dr. Pradeep Vitta
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Answered by
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Dr. Shafi Ullah Khan

General & Family Physician

Practicing since :2012

Answered : 3614 Questions

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