A Blistering Case of Hereditary Hemochromatosis

Abstract

Case Presentation: A 59-year-old male with history of psoriasis and moderate alcohol use presents with blistering of the skin. Biopsies revealed subepidermal bulla. Serum porphyrins were ordered to evaluate for porphyria cutanea tarda (PCT). Total porphyrins were high, 29.1, predominantly uroporphyrin 13.6, consistent with PCT. The patient was also found to have elevated liver related tests ALT 79, AST 53, and serum ferritin of 715. He was referred for further evaluation, and he was found to have elevated transferrin saturation. Genetic testing revealed he was homozygous for the C282Y HFE mutation consistent with hereditary hemochromatosis. Literature Review: Hereditary hemochromatosis (HH) is the most commonly identified genetic mutation in Caucasians, with a prevalence of approximately 1 per 220-250 individuals of northern European origin. The pathophysiologic predisposition to increased inappropriate absorption of dietary iron may lead to development of life-threatening complications of cirrhosis, hepatocellular carcinoma, diabetes, and cardiac disease. Genetic research has led to the discovery of the HFE gene, most notably the C282Y mutation causing hereditary hemochromotosis. A genetic diagnosis can be applied to individuals who have not yet developed any phenotypic expression. These individuals have a genetic susceptibility to develop iron overload, but may or may not do so to a variable degree. Clinical Significance: In this case, the patient presented with a clinical syndrome, (PCT), which, pathophysioligically, has been associated with elevated iron stores. Notably, the patient had a history of being a frequent blood donor, keeping iron levels from rising for most of his life. Mild liver-related lab abnormalities at the time of diagnosis of PCT led to a clinical suspicion of HH. Research Questions: Will early detection of a genetic mutation assist in prevention of complications from this disease? How does PCT relate to HH?