Master the board step 3

Master the Boards: USMLE Step 3
The most common
cause of death from
hemochromatosis is
cirrhosis. Cardiac disease
occurs in only 15 percent
of cases.
Hemochromatosis
Most often, hemochromatosis is caused by a genetic disorder resulting in the
overabsorption of iron. The iron deposits throughout the body, most commonly
in the liver. Other manifestations include the following:
··
Restrictive cardiomyopathy
··
Skin darkening
··
Joint pain caused by pseudogout or calcium pyrophosphate deposition
disease
··
Damage to the pancreas leading to diabetes, referred to as “bronze diabetes”
··
Pituitary accumulation with panhypopituitarism
··
Infertility
··
Hepatoma
Diagnostic Testing
··
Best initial test: Elevated serum iron and ferritin levels with a low ironbinding
capacity. The iron saturation is enormously elevated (> 45 percent).
··
Most accurate test: Liver biopsy. However, an MRI of the liver and the
specific genetic test, the HFe gene mutation, in combination are sufficiently
diagnostic to spare the patient a liver biopsy.
Treatment
··
Phlebotomy
Autoimmune Hepatitis
Look for a young woman with other autoimmune diseases, such as Coombs
positive hemolytic anemia, thyroiditis, and ITP.
Diagnostic Testing
··
Best initial tests: ANA and antismooth muscle antibody test. Serum protein
electrophoresis (SPEP) shows hypergammaglobulinemia. The patient
may also have positive ANA and liver/kidney microsomal antibody.
··
Most accurate test: Liver biopsy
Treatment
Treat with prednisone. Other immunosuppressive agents, such as azathioprine,
may be needed if one is attempting to wean the patient off steroids.
Nonalcoholic Steatohepatitis (NASH)
NASH is strongly associated with obesity, diabetes, and hyperlipidemia.
Hepatomegaly is often present.
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