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Hepatobiliary Disorders > Hemochromatosis > Flashcards

Hemochromatosis Flashcards

1
Q

Types of hemochromatosis?

A

Primary or acquired

Secondary (aka Hemosiderosis)

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2
Q

Hereditary hemochromatosis (HH) is autosomal ___________ (reccessive/dominant) disease

A

autosomal reccessive

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3
Q

The mutation is on the short arm of chromosome ___ and ass. w/ HLA A3 in HH

A

6

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4
Q

HH is more common in _________ (males/females)

A

males

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5
Q

HH is diagnosed 10-20 years after menopause but it is diagnosed earlier in males. Why?

A

Females have a way of losing extra iron through menses.

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6
Q

What is the pathogenesis of HH?

A

Increased iron absorption → Increased serum iron
Excess iron gets deposited in tissues
Excess iron makes free radicals that causes 3 things
1. Lipid peroxidation
2. Fibrosis
3. DNA damage causing HCC

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7
Q

Fibrosis occurs when iron in the liver is around or more than ________ ug

A

22000

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8
Q

What is the classic tetrad in HH?

A

Cirrhosis
Abnormal skin pigmentation
Diabetes mellitus
Restrictive cardiomyopathy

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9
Q

Classic tetrad is usually seen _________ (early/late) in HH

A

late

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10
Q

Symptoms develop when iron is more than ____ gm in the body

A

20

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11
Q

What r the clinical findings in HH

A 
Cirrhosis, Hepatomegaly
Diabetes mellitus
Malabsorption
Restrictive CM and arrhythmias
Hypogonadism
Acute synovitis and pseudogout, DJD
Slate gray color of skin
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12
Q

What is bronze diabetes?

A

Hemochromatosis is sometimes referred to as bronze diabetes because it can lead to darkening of the skin and hyperglycemia

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13
Q

MCC of death in HH is _______

A

HCC

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14
Q 
What will be the results of iron profile?
Iron
Ferritin
Transferrin
TIBC
Transferrin iron saturation
A 
Iron ↑
Ferritin ↑
Transferrin ↓
TIBC ↓
Transferrin iron saturation ↑
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15
Q

What will be other lab findings other than iron profile?

A

Hyperglycemia

↓ LH and ↓FSH

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16
Q

What is used more nowadays for dx of HH?

Liver biopsy OR HFA gene testing

A

HFA gene testing

17
Q

Serum _______ levels are also used to follow therapy in HH.

A

ferritin

18
Q

What are the genes involved in HH?

A

HAMP - makes hepcidin
Hemojuvelin HJV
HFE
TFR2

19
Q

Transcription of hepcidin is increased by two things.

A

Iron

Inflammatory cytokines

20
Q

Transcription of hepcidin is decreased by 3 things.

A

Iron deficiency
Hypoxia
Ineffective erythropoiesis

21
Q

Which form of HH is milder? Adult or Juvenile

A

Adult

22
Q

Mutations ass. w/ adult form of HH

A

HFE

C282Y (europeans) and H63D (worldwide)

23
Q

Juvenile form of HH is severe and involves _______ and _______ mutations

A

HAMP

HJV

24
Q

What happens to the liver in HH (early and late stages)

A

Early - large chocolate brown w/ yellow brown hemosiderin globules
Late - dark brown to black, shrunken and micronodular cirrhosis

25
Q

WHat happens to pancreas in HH?

A

Interstitial fibrosis
Pigmented
Damage to exocrine and endocrine parts

26
Q

What happens to the heart?

A

ENlarged, brown and fibrosed myocardium

27
Q

What happens when pituitary gland is destroyed in HH

A

Hypogonadism
Low FSH and LH levels
Ammenorrhea in women
Loss of libido in men

28
Q

What are the manifestations of HH in joints?

A

Acute synovitis

Pseudogout (deposition of calcium pyrophosphate)

29
Q

What are the changes in skin in HH?

A

Slate gray color

Increased melanin synthesis

30
Q

What are the important morphological features in HH

A

Hemosiderin deposition in organs
Cirrhosis
Pancreatic fibrosis

31
Q

What r the causes of hemosiderosis?

A

Cirrhosis - low hepcidin - high iron
Thalassemia - years of transfusion
Congenital or neonatal hemochromatosis

32
Q

What is tx of neonatal hemochromatosis?

A

supportive care

LIVER TRANSPLANT

33
Q

What is the tx of hemochromatosis?

A

Phlebotomy

Iron chelators

34
Q

What happens in neonatal hemochromatosis?

A

Severe liver injury
Extrahepatic tissue iron deposition
It occurs in utero (its not hereditary, its congenital)

35
Q

_________ (Fever/buccal biopsy/liver biopsy) is needed to be documented for the dx of neonatal hemochromatosis

A

buccal biopsy

Hepatobiliary Disorders (8 decks)

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