HEREDITARY HAEMOCHROMATOSIS

HEREDITARY HAEMOCHROMATOSIS (HH)

Today, I am going to talk about an important disease in gastroenterology. This disease is commonly asked in MRCP and popular questions being asked in MRCP Part 1 as well as Part 2 are as follow,

a) data interpretation for iron profile of a patient,
b) Presentations of hereditary haemochromatosis, usually a patient with non- specific joint pain,
c) Complications of HH,
d) HLA A3 association with the disease

Hereditary haemochhromatosis is a condition where there is abnormal high absorption of iron by the gut mucosa leading to iron overload in the body. It is another common cause of chronic liver disease in young age population besides Wilson’s disease. Remember that hereditary haemochromatosis is the commonest cause of iron overload in Western countries whereas in developing countries and Middle East, multiple frequent transfusions is the major cause of iron overload especially among patients with Thalassemia.

Data Interpretation For Hereditary Haemochromatosis

Features

Total iron increased
Ferritin increased
Fasting transferring saturation increased

Remember that due to iron overload in all organs especially endocrine organs such as pituitary, gonads, pancreas and also liver, cartilage, joints and etc this eventually leads to development of Diabetes mellitus, low testosterone and possibility of low libido and infertility.

Common presentations of Hereditary Haemochromatosis

Due to above reasons ( iron overload), patient may present with
- unspecific joint pain,
- chronic liver disease ( liver cirrhosis) and lead to liver cancer
- loss of libido and infertility
- DM

Complications of HH

Liver cirrhosis
Cardiomyopathy ( due to iron overload over cardiac muscle)

Treatment of HH

Recurrent phlebotomy, avoid Vit C ( can increase iron absorption) and alcohol.