HH

Question 1

39-year-old Caucasian woman presents with hand discomfort and “big and swollen knuckles,” difficulty using a fishing reel, early menopause, amenorrhea for 4 years, and a healthy lifestyle with a seafood-rich diet. Exam shows tanned skin, no hepatosplenomegaly, BMI 32, and hand X-rays reveal degenerative arthritis in MCP and PIP joints. Labs show high iron saturation (75%), elevated ferritin (432), and normal liver enzymes. Autoimmune and viral hepatitis serologies are negative.

Answer 1

A-Diagnosis
Hemochromatosis
B-Test to confirm diagnosis
HFE gene
C-Will Treatment help knuckle?
No
D-Life style assesment
*Avoid vit c
*Decrease iron in diet
*Avoid selfish food

Question 2

A former intravenous drug user is referred to you for persistently elevated liver enzymes
(AST/ALT 3x ULN) and transferrin saturation (85%). Recent liver biopsy revealed presence
of hemosiderin in Kupffer cells, but not in hepatocytes.

Answer 2

Hemosiderosis

Question 3

Iron in hepatocytes

Answer 3

Hemochromatosis

Question 4

Iron in Kupffer cells

Answer 4

Hemosiderosis

Question 5

Elevated transaminases + arthritis in 2nd and 3rd MCP joints.

Answer 5

Hemochromatosis

Question 6

When to ask for biopsy in hemochromatosis

Answer 6

*age <40 year
*Ferritin>1000
*Hepatomegaly
*C282 Y mutation is negative with clinical or biochemical evidence of H.H

Question 7

C/p

Answer 7

Hemochromatosis can destroy skin
H…
*HFE gene on Chromosome 6) → cy282y/cy282y
*Hypogonadism → ↓ libido, impotence, ↓ testicular size, amenorrhea
*Hepatocellular Ca ↑ (↑ 20 fold) → Cirrhosis

Question 8

C/p

Answer 8

*Cardiac → Cardiomyopathy, Arrhythmias
* Calcinosis (Pseudo gout)→ Arthropathy
* Poly-articular, Symmetrical
* mainly affect 2nd & 3rd MCP & PIP

Question 9

C/p

Answer 9

D…Dm

Question 10

C/p

Answer 10

S …skin pigmentation (bronzen skin)

Question 11

Early sign

Answer 11

اول كلمة في المرض
Bronzen (skin pigmentation)

Question 12

Initial test is

Answer 12

Transferrin saturation>45%

Question 13

Diagnosis

Answer 13

1- HH is suspected in case of unexplained ↑ liver enzymes
+
* Degenerative arthropathy (2nd, 3rd MCP & PIP joints)
* DM
* unexplained hypogonadism
2-Transferrin Saturation
= Iron / TIBC
if > 45% → Suspect HH
* ↑ S. Ferritin > 1000 mg/dL → ask for liver biopsy due to severe liver damage Suggestion
3-Genetic C282Y / C282Y homozygous mutation of HFE gene on chromosome 6 is the most diagnostic test
4- Liver Biopsy is asked only if:-
* S. Ferritin > 1000 in
*Age< 40 years old
* C282 Y mutation is negative with clinical or biochemical evidence of H.H
→ if > 1.9 → hereditary H.H & if < 1.9 → don’t exclude
*All 1st degree relatives of homozygous H.H above age of 20 years should be screening by S. iron, S. ferritin, TIBC (iron profile)

Question 14

Irreversible symptoms

Answer 14

JEL
Joint
Endocrine(hypogonadism)
Liver decomposition

Question 15

Treatment

Answer 15

Goal is to prevent irreversible Complications (JEL)
1- Venesection (Phlebotomy)
* Start in Symptomatic Patients with transferrin Sat > 45% & S. Ferritin > 200 ng/mL in female or >300 ng in male.
* Induction of Phlebotomy once a week in dose of 7ml/kg with max dose 550 cm /session
Till Ferritin < 50 ng/dL
**manitainance dose.. every 2 or 3 months
* diet iron restriction for 1 year = Single phlebotomy
2- Erythrocytopharesis
* Used in patients with cardiac or severe anemia (Hgb < 10 gm) but Should be avoided if Hgb < 10 gm
3-Iron chelators (عوامل خالبة للحديد - تستخدم نادرًا)
* in severe cases - heart failure - difficult venesection
* Deferoxamine (desferal 500mg vial)
* 1-2 g S.C (dose 20 - 40 mg/kg IV over 8 hours 5 repeated / week)
*Defroprone
* Deferasirox (oral) حبوب
4- Liver Transplant in HCC or End stage Liver disease