Hemochromatosis
What is the pattern of inheritance of primary hemochromatosis?
Autosomal recessive
Primary hemochromatosis is due to ____ or ____ mutation on the HFE gene.
C282Y, H63D
Secondary hemochromatosis is mainly caused by what?
Chronic transfusion therapy, which can occur in the setting of disorders such as β-thalassemia major
A 42-year-old woman with HLA-A3-related iron disease could be at risk of what cardiac complication? How?
Congestive heart failure; secondary to cardiomyopathy (caused by iron deposition in the heart, from hemochromatosis)
Primary hemochromatosis is associated with this type of human leukocyte antigen (HLA).
HLA-A3
A man with liver disease triggers a metal detector while passing through airport security, but no metal is found on him. Explain.
He likely has hemochromatosis with a total body iron level >50 g, which can set off metal detectors at airports
A patient new to your practice has known hemochromatosis. For which cancer should you be vigilant because of this?
Hepatocellular carcinoma
Describe ferritin levels, iron levels, total iron-binding capacity, and transferrin saturation in patients with hemochromatosis.
High, high, low, high
A woman undergoing menstruation notices that her "bronze" diabetes is not as severe. Skin pigmentation is also decreased. Why?
Iron is lost through menstruation, slowing the progression of hemochromatosis in women
Hemochromatosis classically affects which three organs, causing which three classic symptoms?
Liver (symptom of micronodular cirrhosis), skin (pigmentation), and pancreas (bronze diabetes)
A man recently diagnosed with insulin-dependent diabetes mellitus has pigmented skin and elevated LFTs. What does liver biopsy show?
Liver biopsy will diagnose it with a positive Prussian blue stain (this is hemochromatosis)
A patient has a C282Y mutation on the HFE gene that causes symptoms. What are some of his treatment options?
Repeated phlebotomy, chelation with deferasirox, deferoxamine, deferiprone (oral) (this is hereditary hemochromatosis)
