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
- 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).