Erythropoietic protoporphyria, mild variant

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 Inclusion criteria:

  • History of episodic photosensitivity;
  • No evidence of an alternative cause of photosensitivity;
  • Onset of symptoms >60 mins after sun exposure and/or atypical symptoms compared to classical EPP photosensitivity and/or resolution of symptoms <48 hours
  • Raised red cell free protoporphyrin concentration

 Exclusion criteria:

  • Normal red cell protoporphyrin concentration

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

 Prior genetic testing genes 

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • FECH

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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