Internal Medicine

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

670 Hemiballismus Hemochromatosis

follow-up

■Depends on cause

complications and prognosis

■Typically resolves in weeks to months

Hemochromatosis...................................

ERIC LEONG, MD, FRCPC

history & physical

Risk Factors for Iron Overload

■HereditaryHFE-associated hemochromatosis

■Hereditary non-HFE-associated hemochromatosis

■Multiple blood transfusions

■Multiple doses of parenteral iron

■Thalassemia major

■Acquired sideroblastic anemias

■Alcoholic liver disease (mild hepatic iron overload)

■Porphyria cutanea tarda (mild hepatic iron overload)

Symptoms and Signs

■Many patients asymptomatic

■Symptomatic stage: fatigue, arthralgia, RUQ pain, hepatomegaly,

increased skin pigmentation, loss of libido, impotence, amenor-

rhea, symptoms related to diabetes mellitus, dyspnea and/or cardiac

arrhythmias

■Advanced disease: decompensated cirrhosis with liver failure, HCC

tests

Basic Tests: Blood

■Early disease:

➣Transferrin saturation >45%; warrants further testing

➣Serum ferritin increases linearly with total body iron stores

➣AST and ALT may rise with significant hepatic iron overload

■Advanced disease:

➣Low serum albumin, elevated bilirubin and INR

Specific Diagnostic Test

■HFE