Flashcards in 69. Hemochromatosis Deck (22):
causes of Hemochromatosis
1. Ar mutation in HFE gene ( C282Y > H63D, ch 6 ) --> abnormal iron sensing and increased intestinal absorption
2. 2RY to CHronic transfusion therapy like in β-thalassemia major ) --> iron
iron accumulation especially in
lab / diagnosis
1. increased ferritin and iron, decreased TIBC --> increased transderrin saturartion
2. Liver MRI
3. biopsy with Prussian blue stain
age of presentation
after age of 40 when total body iron > 20g ( iron loss through menstruation slows progression in women )
classic triad: 1. cirrhosis 2. DM 3. Skin pigmentation ( bronze dibaete). ALSO 4. reversible dilated cardiomyopathy 5. hypogonadism
mechanism of arthropathy
calcium pyrophosphate deposition --> esp in metacarpophalangeal joints
common cause of death in hemochromatosis
1. repeated phlebotomy
2. chelation with deferasirox
4. oral defiprone
wilson vs hemochromatosis according to gene
1. hematochromatosis --> AR mutatation in HFE gene ( C282Y> H63D, ch 6) --> abnormal iron sensing and increased intestinal absorption
2. Wilson --> AR mutation in hepatocyte copper transporting ATPase ( ATP7N gene, ch13)
wilson vs hemochromatosis according to presentation
wilson --> before 40
hemochromatosis --> after of age of 40 when total body iron > 220 g ( iron loss through menstruation slows progression in women)
wilson vs hemochromatosis according to treatment
hemochromatosis --> 1. repeated phlebotomy
2. chelation with deferasirox 3. deferoxamine
4. oral deferiprone
Wilson --> 1. chelation with penicillamine or trientine
2. oral zinc
• Hemochromatosis classically affects which three organs, causing which three classic symptoms?
Liver (symptom of micronodular cirrhosis), skin (pigmentation), and pancreas (bronze diabetes)
• 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)
• A patient new to your practice has known hemochromatosis. For which cancer should you be vigilant because of this?
• What is the pattern of inheritance of primary hemochromatosis?
• Primary hemochromatosis is due to ____ or ____ mutation on the HFE gene.
• Primary hemochromatosis is associated with this type of human leukocyte antigen (HLA).
• Secondary hemochromatosis is mainly caused by what?
Chronic transfusion therapy, which can occur in the setting of disorders such as β-thalassemia major
• Describe ferritin levels, iron levels, total iron-binding capacity, and transferrin saturation in patients with hemochromatosis.
High, high, low, high
• 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)
• 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