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Diagnosing Acute Porphyrias

¹ Norwegian Porphyria Centre (NAPOS), Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway² Department of Medical Biochemistry and Immunology, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom

^aAddress correspondence to this author at: Norwegian Porphyria Centre, Laboratory of Clinical Biochemistry, Haukeland University Hospital, N-5021 Bergen, Norway. E-mail sverre. sandberg@isf.uib.no.

The first 300 words of the full text of this article appear below.

Porphyrias are rare diseases, and most clinicians will see only a few cases during their professional lives. Each of the seven types is caused by partial deficiency of a different enzyme in the heme biosynthesis pathway (1). Disease-specific mutations in the genes encoding these enzymes have been identified in all of the inherited porphyrias (2). The current repertoire of investigations for porphyria includes measurement of metabolites (heme precursors) that accumulate secondary to the enzyme deficiencies as well as enzyme assays and DNA analyses.

Four porphyrias can present with life-threatening acute neurovisceral attacks: -aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) (1). Attacks are often provoked by drugs, endocrine factors, alcohol, fasting, infection, or stress. In VP and HCP, skin lesions, typically erosions and bullae in sun-exposed areas, may accompany an acute attack or, particularly in VP, be the sole presenting symptom. -Aminolevulinic acid dehydratase deficiency porphyria is a very rare, autosomal recessive disease (3) and will not be discussed here. AIP, VP, and HCP are autosomal dominant disorders that show incomplete penetrance with symptoms developing in only 30% of individuals who carry a gene with a disease-causing mutation. Screening families to identify such individuals is important because their risk of an acute attack can be decreased by counseling on avoiding potential precipitants (1)(4).

There are three main ways in which a patient with a suspected acute porphyria can present for investigation: with acute or cutaneous symptoms, during remission after a past illness attributed to acute porphyria, or with a family history of porphyria. Metabolite concentrations are invariably increased when symptoms caused by porphyria are present but may decrease to within reference values during remission and are frequently within the reference . . . [Full Text of this Article]

The following articles in journals at HighWire Press have cited this article:

				A. K. Aarsand, P. H. Petersen, and S. Sandberg Estimation and Application of Biological Variation of Urinary {delta}-Aminolevulinic Acid and Porphobilinogen in Healthy Individuals and in Patients with Acute Intermittent Porphyria. Clin. Chem., April 1, 2006; 52(4): 650 - 656. [Abstract] [Full Text] [PDF]