Abstract
Porphyrias form a heterogeneous group of disorders of haem biosynthesis. They are often missed or wrongly diagnosed in the emergency department. Acute porphyrias present most commonly as abdominal pain or as neurological or atypical psy-chiatric symptoms. The variety of clinical features may delay diagnosis, and unrec-ognized disease is potentially life-threaten-ing. The frequency and severity of attacks vary widely. In some people, this disease remains latent throughout life, even in the presence of precipitating factors. Other people experience frequent and sometimes life-threatening attacks even in the appar-ent absence of exogenous precipitating fac-tors.Laboratory diagnosis of acute porphyria includes porphyrin precursors delta ami-nolevulic acid and porphobilinogen. Pa-tients presenting with acute crises often have several-fold increases in PBG above the reference interval, usually > 10 times the upper reference limit. Hyponatremia and rabdomyolysis are relatively common manifestation accompanying acute attack.
Highlights
Porphyrias are a group of metabolic diseases caused by defect in one of the seven enzymes involved in the haem biosynthesis pathway
Porphyrias are classified as erythropoietic porphyria or hepatic porphyrias, depending on whether the genetic defect mainly affects the erythroid or the hepatic haem biosynthesis
acute intermittent porphyria (AIP) is the most commonly encountered acute porphyria worldwide and has a higher clinical penetrance compared with AP and hereditary coproporphyria (HCP)
Summary
Porphyrias are a group of metabolic diseases caused by defect in one of the seven enzymes involved in the haem biosynthesis pathway (figure 1). They form a heterogeneous group of disorders of haem biosynthesis, and they are often missed or wrongly diagnosed. Partial deficiency of one of the seven enzymes in the pathway causes characteristic clinical and biochemical features These disorders are due to a specific alteration in the pattern of accumulation of porphyrin and porphyrin precursors. The symptoms of AIP and ALAD-deficiency porphyria are essentially neurological, whereas VP and HCP are mixed forms which may present with either neurovisceral manifestations or cutaneous photosensitivity or both. AIP may serve as a general model for the clinical management of acute porphyria crises, since treatment, diagnostic and preventive measures are similar in all acute porphyrias
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