Hemochromatosis

What is the MCC of death from hemochromatosis?

HCC (hepatocellular carcinoma)

Hereditary hemochromatosis has a mutation where and cause what gene?

HLA-A on chromosome 6p, HFE

What are the symptoms of hemochromatosis?

abdominal pain, fatigue, bronzing, joint pain, lack of energy, decreased libido, weight loss

What are lifestyle treatment options for hemochromatosis?

avoid iron supplements, vit C, EtOH, and eat raw shellfis

What are the reversible hemochromatosis of hemochromatosis?

cardiomyopathy, abdominal pain and bronzing

What are the irreversible hemochromatosis of hemochromatosis?

cirrhosis, heptatocellular carinom, DM, hypothyroidism, hypogonadism, pituitary gland disorders, arthopathy in joints, and porphria cutanea tarda

Where is unabsorbed iron usually taken us?

enterocytes in intestinal tract

What is the pathophys of hemochromatosis?

error in iron metabolis-> increase iron absorption-> decrease in hepcidin-> iron overload-> evential fibrosis and organ failure, and transferrin can not transfer iron to storage and will become hemosiderin

What is secondary iron overload hemochromotosis?

erythropoiesis due to defects in hemoglobin synthesis or ineffective erythropoiesis such as sideroblastic anemia and thalassemia which causes iron absorption to be increased

what is hemochromatosis?

genetic disease that predispose to iron overload

What are the 2 types of hemochromotosis?

hereditary, and secondary iron overload

How do you dx hemochromatosis?

increase transferrin saturation, increase ferritin, MRI of liver and confirm with liver biopsy is the gold standard, check fo C282Y and H63D mutations

What is the first organ affected by hemochromatosis?

liver

What is the main organs affected by hemochromatosis?

liver, hear, pancreas, gonades

How do you treat hemochromatosis?

phlebotomy and chelating agents

What are the essentials of diagnosis for hemochromatosis?

•Usually suspected because of a family history or an elevated iron saturation or serum ferritin •Most patients asymptomatic •Rarely recognized clinically before age 50s •Associated with hepatic abnormalities and cirrhosis, heart failure, hypogonadism, diabetes and arthritis •HFE gene mutation in most cases •Hemosiderosis is used to describe the presence of stainable iron pigment (Hemosiderin) in tissues