Internal Medicine

0521779407-23 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:24

1554 Whipple’s Disease Wilson’s Disease

■Cardiac involvement may be devastating, especially valvulitis or

myocarditis

■Yearly monitoring of nutritional, cardiac, and neurological status

prevents most complications

WILSON’S DISEASE

ERIC LEONG, MD, FRCPC

history & physical

Risk Factors

■Family history of liver, neurologic, and/or psychiatric disease

Symptoms and Signs

■Symptoms rare before 5 years of age

■Hepatic disease

➣Asymptomatic with biochemical abnormalities

➣Chronic hepatitis, with or without fatigue

➣Cirrhosis with symptoms & signs of liver failure

➣Fulminant hepatitis with or without intravascular hemolysis

■Neurologic disease

➣Kayser-Fleischer rings in 90–100% with neurologic disease

➣Dystonia with rigidity, contractures, bradykinesia, & cognitive

impairment

➣Tremors & ataxia

➣Dysarthria, dyskinesia, & organic personality syndrome

■Psychiatric disease

➣Symptoms present in almost all patients with neurologic disease

➣Early symptoms: subtle behavioral changes, with deterioration

of academic or work performance

➣Late symptoms: emotional lability, depression, impulsive behav-

ior, personality changes

➣Rare: schizophreniform psychosis, anxiety, cognitive impair-

ment

■Symptomatic arthropathy

■Azure lunulae (blue discoloration of fingernail base)

■Abdominal pain related to cholelithiasis

tests

Basic Tests: Blood

■Low serum ceruloplasmin in 90% of all patients & 65–85% of patients

with hepatic manifestations