Der Internist
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Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic porphyrin precursors and porphyrins. ⋯ The location of the deficient enzyme within the heme biosynthesic pathway determines the pattern of the accumulated porphyrins. Besides light protection, there are different therapies depending on the type of non-acute porphyria. Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias.
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A 29-year old woman was admitted with recurrent hemoptysis. Due to the combination of hemoptysis, alveolar infiltrates and anemia a diffuse alveolar hemorrhage syndrome was suspected. After exclusion of underlying diseases and due to the typical histology we confirmed the diagnosis of an idiopathic pulmonary hemosiderosis. In consequence of an acute progression of the disease with pulmonary hemorrhage and severe anemia an empiric therapy with corticosteroids and azathioprine was initiated, resulting in a distinct recovery.