Журнал клинических случаев

Acute Intermittent Porphyria: A Reversible Cause of Cachexia

Abstract

Bernardino Roca and Manuel Roca

Acute Intermittent Porphyria (AIP), the most common of acute porphyrias, is due to deficient activity of the enzyme porphobilinogen deaminase. Clinically presents with acute attacks, which comprise a variety of neuropsychiatric and visceral symptoms. The attacks may be precipitated by drugs, alcohol, smoking, reduced caloric intake, infection, surgery, psychological stress, or hormonal changes. Diagnosis is based on demonstration of markedly increased levels of precursors of porphyrins in blood or urine and deficient activity of the responsible enzyme in erythrocytes. Treatment consists of administering glucose and intravenous heme derivatives, and avoidance of precipitating factors. We report a patient with AIP, who presented with severe and protracted symptoms that led her to an impressive state of cachexia.