Acute intermittent porphyria.
Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. It is an autosomal dominant condition with incomplete penetrance and is potentially life-threatening. The key point in management is to suspect and confirm the diagnosis as early as possible in order to treat the attack and to avoid inappropriate treatments which may exacerbate the crisis. In this chapter we briefly outline the haem biosynthetic pathway and how deficiencies in individual enzymes give rise to the different porphyrias. We then describe the clinical features and diagnosis of AIP, followed by a discussion of pathogenesis, highlighting advances in the molecular biology of AIP and introducing the debate as to whether neurovisceral crises might result from porphyrin precursor neurotoxicity or from haem deficiency. Finally we discuss management, including family screening, avoidance of triggering factors, analgesia, maintenance of a high calorie intake, and administration of haem derivatives.
Herrick
Ariane L
AL
University of Manchester, Rheumatic Diseases Centre, Hope Hospital, Salford M6 8HD, UK. aherrick@fs1.ho.man.ac.uk
McColl
Kenneth E L
KE
D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D000622:Aminolevulinic Acid / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D011162:Porphobilinogen / Q000378:metabolism; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy*
D006418:Heme; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D003577:Cytochrome P-450 Enzyme System