Hereditary Hemochromatosis (HH) – Physical Exam

Physical exam in hereditary hemochromatosis (HH). Most of the physical findings are attributable to organ damage/dysfunction secondary to toxic effects of iron overload. Hepatomegaly, splenomegaly and ascites are secondary to liver involvement. Arthritis most commonly affects the metacarpophalangeal (MCP) joints of the index and middle fingers. Typical findings include hard tissue and soft tissue swelling and in more advanced cases, reduced range of movement. Hypogonadism, usually hypogonadotropic in origin, is the most common nondiabetic endocrinopathy in HH. Skin hyperpigmentation (slate grey or brownish bronze) occurs due to the accumulation of melanin and hemosiderin in the skin. It is most evident on sun-exposed skin, particularly on the face.