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Variegate porphyria

Authors
Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

Variegate porphyria (VP) is an inherited porphyria characterized by cutaneous blistering and/or acute neurovisceral attacks. VP has also been called porphyria variegata, South African genetic porphyria, mixed porphyria (an obsolete term also applied to hereditary coproporphyria [HCP]), protocoproporphyria, and porphyria cutanea tarda hereditaria (which likely included some cases of familial porphyria cutanea tarda [PCT]). The spectrum of disease manifestations is broad, ranging from life-threatening neurovisceral attacks and/or chronic blistering skin lesions to patients who remain asymptomatic throughout their lives.

It is especially important to make an accurate diagnosis of VP in symptomatic individuals with neurovisceral or cutaneous manifestations in order to provide appropriate treatment. The acute neurovisceral attacks can be life threatening, and are treated in the same manner as other acute porphyrias. The skin manifestations are identical to PCT, congenital erythropoietic porphyria (CEP; especially mild cases), hepatoerythropoietic porphyria (HEP), and hereditary coproporphyria. These porphyrias are readily differentiated by well-chosen biochemical studies.  

The pathogenesis, clinical features, diagnosis, and treatment of VP will be discussed here.

Other porphyrias, as well as a general overview, are presented separately:

Overview – (See "Porphyrias: An overview".)

                            

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Literature review current through: Nov 2016. | This topic last updated: Mon Sep 12 00:00:00 GMT+00:00 2016.
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