Porphyria, erythropoietic protoporphyria, erythrohepatic protoporphyria

Material

2 ml EDTA blood

OMIM

612386

Methods

Verification of mutations in the FECH gene by PCR and subsequent sequencing

Clinical relevance

Mutation analysis for differential diagnosis in cases of

 

- accumulation of porphyrins and porphyrin precursors (D-ALA, PBG) in the urine

- accumulation of protoporphyrin in the blood

- cholestasis of unknown origin

- unexplained hepatic dysfunction

- familial clustering of EPP conditions

General notes

Erythropoietic protoporphyria (EPP) is a form of erthropoetic porphyria. The disease is characterised by the accumulation of protoporphyrin in the skin, which is associated with extremely painful photosensitivity (photodermatosis especially of the nose, external ear, and back of the hand) with childhood onset. In some patients, cholestasis and severe liver dysfunction occurs (Caution: acute liver failure in 2-3% of cases).

 

The ferrochelatase gene (FECH gene), which is located on the long arm of chromosome 18, is responsible for causing EPP. So far, more than 90 different mutations have been identified (The Human Gene Mutation Database, as of 09.2007). Approximately 95% of the mutations in the FECH gene can be reliably detected with the molecular genetic analysis. The mode of inheritance is autosomal dominant, and in rare cases autosomal recessive. Genetic analysis reliably confirms clinical diagnosis of affected patients and allows for the identification of yet asymptomatic family members.

Last update: 18.06.2018

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