69. Hemochromatosis Flashcards Preview

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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

1. liver
2. pancreas
3. skin
4. heart
5. pituitary
6. joints


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 )


clinical manigestation

classic triad: 1. cirrhosis 2. DM 3. Skin pigmentation ( bronze dibaete). ALSO 4. reversible dilated cardiomyopathy 5. hypogonadism
6. arthropathy
7. HCC


mechanism of arthropathy

calcium pyrophosphate deposition --> esp in metacarpophalangeal joints


common cause of death in hemochromatosis



hemochromatosis- treatment

1. repeated phlebotomy
2. chelation with deferasirox
3. defereoxamine
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?

Hepatocellular carcinoma


• What is the pattern of inheritance of primary hemochromatosis?

Autosomal recessive


• Primary hemochromatosis is due to ____ or ____ mutation on the HFE gene.

C282Y, H63D


• 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


• 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

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