Hereditary haemochromatosis -Quick revision card

several inherited disorders - characterized by increased gastrointestinal iron absorption due to mutations in genes that participate in iron homeostasis Type 1 or classical HH is an autosomal recessive disorder leading cause in people of European ancestry is homozygosity of the C282Y variant in the HFE gene seen in 1 in 300 non-Hispanic whites in US and up to 1 in 150 in people of NW European ancestry not all C282Y homozygotes would develop the disease presentation is generally between ages 40-60 yrs men suffer more with haemochromatosis than women.

decreased expression of iron regulatory hormone hepcidin normally hepcidin reduces the export of iron from the reticuloendothelial cells due to mutation of the HFE gene ' brake ' on iron absorption is lost and cellular iron absorption happens unabated ( in the duodenum )

milder variant can predispose to haemochromatosis if they inherit a C282Y variant from one parent and a H63D variant from another parent they are called as compound heterozygotes

very low risk of developing iron overload

liver abnormalities ( seen in > 70 % patients ) can manifest as abdominal pain , hepatomegaly , cirrhosis , portal hypertension , ascites and splenomegaly pancreas ( diabetes- advanced disease...