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Role of genetic testing in the management of patients with inherited porphyria and their families

Whatley, Sharon and Badminton, Michael 2013. Role of genetic testing in the management of patients with inherited porphyria and their families. Annals of Clinical Biochemistry 50 (3) , pp. 204-216. 10.1177/0004563212473278

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The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. The role of genetic testing in the autosomal dominant acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria) is to identify presymptomatic carriers of the family specific pathogenic mutation so that they can be counselled on how to minimize their risk of suffering an acute attack. At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic testing in the erythropoietic porphyrias (erythropoietic protoporphyria, congenital erythropoietic porphyria and X-linked dominant protoporphyria) is focused on predictive and preconceptual counselling, prenatal testing and genotype–phenotype correlation. Recent advances in analytical technology have resulted in increased sensitivity of mutation detection with success rates of greater than 90% for most of the genes. The ethical and consent issues are discussed. Current research into genetic factors that affect penetrance is likely to lead to a more refined approach to counselling for presymptomatic gene carriers.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: SAGE Publications (UK and US)
ISSN: 0004-5632
Date of Acceptance: 9 October 2012
Last Modified: 25 Mar 2019 15:44

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