Clinical Features of Hereditary Hemochromatosis Associated with Mutations in HAMP or HJV (Juvenile or Type 2 Hereditary Hemochromatosis)

Juvenile hemochromatosis (Type 2) is a rare form of hemochromatosis associated with mutations in 2 genes.

Inheritance: autosomal recessive with disease only in homozygotes

Onset: childhood, adolescence or early adulthood (earlier than classic hemochromatosis)

Clinical features:

(1) unexplained fatigue

(2) arthralgias or arthropathy

(3) diabetes mellitus

(4) cirrhosis

(5) cardiac disease or cardiomyopathy

(6) hypogonadism (hypogonadotropic)

(7) skin hyperpigmentation

Laboratory findings:

(1) The serum ferritin is elevated, sometimes markedly.

(2) The serum transferrin saturation is > 45% (may be 100%).

(3) Urine concentrations of hepcidin are reduced to absent.

(4) Variable evidence of diabetes mellitus.

(5) Variable evidence of liver disease.

(6) Elevated iron in a liver biopsy.

Treatment includes repeated phlebotomies to reduce iron overload and avoidance of iron intake.

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