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Liver & GIT

3 out of 6

A patient presents with Arthritis, hyperpigmentation of skin and hypogonadism, likely diagnosis is- (AI 2001)

A Hemochromatosis

B Ectopic ACTH secreting tumour of the lung

C Wilson's disease

D Rheumatoid arthritis

Ans. A Hemochromatosis

1. Hemochromatosis is a condition in which the amount of total body iron is increased; the excess iron is deposited in and causes damage to several organs including the liver.

2. Aetiology

a. Autosomal recessive,

b. Gene is located on chromosome 6.

c. Approximately 90% of patient have a single-point mutation at position C282Y & H63D in a protein (HFE).

3. Clinical features

a. Features of hepatic cirrhosis (especially hepatomegaly),

b. Diabetes mellitus

c. Heart failure.

d. Leaden-grey skin pigmentation due to excess melanin & iron occurs, especially in exposed parts, (‘bronzed diabetes’).

e. Impotence, loss of libido, testicular atrophy. These changes are primarily the result of decreased production of gonadotropins due to impairment of hypothalamic-pituitary function by iron deposition. (H-18th Pg- 3165)

f. Arthritis with chondrocalcinosis secondary to calcium pyrophosphate deposition.

g. Joints of hands especially 2nd& 3rd MCP joint are 1st to be involved.

Extra Edge:

1. Affected patients are at increased risk of infection with Vibrio vulnificus, Listeria monocytogenes, Yersinia enterocolitica, and other siderophilin organisms.

2. The risk of porphyria cutanea tarda is increased.

3. Hepatomegaly(95%), skin pigmentation 90%), DM 65%, arthropathy 25 – 50%, Cardiac disease 15%, Hypogonadism.

4. M/C death is treated patient hepatoma

5. M/C death is untreated patient CHF