Porphyria Service Cardiff

The Cardiff Porphyria Service specialises in the diagnosis and treatment of the porphyrias in the UK. The Service provides a comprehensive porphyria service for both clinicians and their patients by offering: 

  • Multidisciplinary clinical advice
  • Routine laboratory diagnosis
  • Genetic mutation analysis
  • Safe drug information (in conjunction with the Welsh Medicines Information Service, WMIC)
  • Genetic counselling (in conjunction with Medical genetics) 

The service also initiates and participates in research into the porphyrias and has strong collaborative links with our European colleagues.

 


What we offer

The patient:

  • Outpatient clinics (Multidisciplinary).
  • Joint care by a consultant clinical porphyria and inborn errors of metabolism specialist (Dr M Badminton), a consultant paediatrician (Dr G Shortland) and a consultant dermatologist (Dr James Powell).
  • Advice and support on living with porphyria.

For medical professionals: 

  • Advice on management of inpatients with suspected porphyria
  • Advice on the management of patients with porphyria being treated for other medical conditions
  • Up-to-date information on drug safety in the acute porphyrias (in conjunction with the Welsh Medicines Information Service)
  • National Acute Porphyria Service (NAPS).
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