69. Hemochromatosis Flashcards Preview

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Flashcards in 69. Hemochromatosis Deck (22):
1

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

2

iron accumulation especially in

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

3

lab / diagnosis

1. increased ferritin and iron, decreased TIBC --> increased transderrin saturartion
2. Liver MRI
3. biopsy with Prussian blue stain

4

age of presentation

after age of 40 when total body iron > 20g ( iron loss through menstruation slows progression in women )

5

clinical manigestation

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

6

mechanism of arthropathy

calcium pyrophosphate deposition --> esp in metacarpophalangeal joints

7

common cause of death in hemochromatosis

HCC

8

hemochromatosis- treatment

1. repeated phlebotomy
2. chelation with deferasirox
3. defereoxamine
4. oral defiprone

9

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)

10

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)

11

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

12

• Hemochromatosis classically affects which three organs, causing which three classic symptoms?

Liver (symptom of micronodular cirrhosis), skin (pigmentation), and pancreas (bronze diabetes)

13

• 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)

14

• A patient new to your practice has known hemochromatosis. For which cancer should you be vigilant because of this?

Hepatocellular carcinoma

15

• What is the pattern of inheritance of primary hemochromatosis?

Autosomal recessive

16

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

C282Y, H63D

17

• Primary hemochromatosis is associated with this type of human leukocyte antigen (HLA).

HLA-A3

18

• Secondary hemochromatosis is mainly caused by what?

Chronic transfusion therapy, which can occur in the setting of disorders such as β-thalassemia major

19

• Describe ferritin levels, iron levels, total iron-binding capacity, and transferrin saturation in patients with hemochromatosis.

High, high, low, high

20

• 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)

21

• 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

22

• 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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