Internal Medicine

0521779407-09 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:12

Hemochromatosis 671

■Genotyping identifies individuals at risk for hereditary hemo-

chromatosis; 85% are C282Y/C282Y homozygotes &

■3% are C282Y/H63D compound heterozygotes

Imaging

■Ultrasound or CT scan: not diagnostic and usually normal in early

disease; may show hepatomegaly or evidence of advanced disease

(cirrhosis with splenomegaly, HCC)

Liver Biopsy

■Definitive test for determining severity of hepatic iron overload and

liver damage; consider when ferritin >1,000 mcg/L or when AST and

ALT elevated; may not need to perform in patients <30 years of age,

with normal AST and ALT, and serum ferritin < 500 mcg/L, as cirrho-

sis is unlikely

■Hepatic iron concentration (HIC) >80 mcmol per gram of dry liver

tissue associated with increased risk of hepatic fibrosis and cirrhosis;

HIC >400 mcmol/g associated with increased risk of HCC and death

■Hepatic iron index (HIC divided by patient’s age in years) typically

>1.9 in patients with homozygous hereditary hemochromatosis and

expressed iron overload

differential diagnosis

■Exclude causes of secondary iron overload by history and appropri-

ate laboratory tests

■Consider other causes of chronic liver disease (e.g., hepatitis B, hep-

atitis C, alcohol)

management

What to Do First

■Assess severity of liver disease and complications

■Determine need for liver biopsy and patient’s candidacy for therapy

General Measures

■Adjust or avoid potentially hepatotoxic medications; avoid alcohol

and high doses of vitamin C

■Evaluate liver disease by history, physical examination, transferrin

saturation, ferritin, liver biochemistry±liver biopsy

■Consider HFE genotyping; if patient is homozygous for C282Y, con-

sider screening first-degree relatives