Neurovisceral porphyrias: what a hematologist needs to know.
The acute or inducible hepatic porphyrias comprise four inherited disorders of heme biosynthesis. They usually remain asymptomatic for most of the lifespan of individuals who inherit the specific enzyme deficiencies but may cause life-threatening attacks of neurovisceral symptoms. Failure to consider the diagnosis frequently delays effective treatment, and inappropriate diagnostic tests and/or mistaken interpretation of results may lead to misdiagnosis and inappropriate treatment. The four disorders are ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment of choice for all but mild attacks of the acute porphyrias is intravenous hemin therapy, which should be started as soon as possible. Intravenous glucose alone is recommended only for mild attacks (no weakness or hyponatremia) or until hemin is available.
Bonkovsky
Herbert L
HL
The Liver-Biliary-Pancreatic Center, University of Connecticut, MC-1111, 263 Farmington Avenue, Farmington, CT 06030, USA. bonkovsky@uchc.edu
D046349:Coproporphyria, Hereditary / Q000097:blood / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D000623:Porphobilinogen Synthase / Q000172:deficiency; D017118:Porphyria, Acute Intermittent / Q000097:blood* / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D011164:Porphyrias / Q000097:blood* / Q000145:classification / Q000175:diagnosis / Q000235:genetics
D006418:Heme; D000623:Porphobilinogen Synthase