Porphyria
What we do
We provide one of the largest porphyria services in the UK. The porphyrias are a group of mainly inherited conditions. They are characterised by attacks of severe pain (acute porphyrias) or light sensitive skin problems (cutaneous porphyrias).
We provide testing and treatment for adults and children with all forms of porphyria. The service we offer has a particular focus on the acute porphyrias (acute intermittent porphyria, variegate porphyria and hereditary coproporphyria).
All patients are offered an initial consultation including testing for porphyria. Patients with confirmed porphyria are offered long-term follow up. This includes monitoring for complications such as kidney or liver problems.
We are one of two providers of the UK National Acute Porphyria Service (NAPS), a highly specialised service to support patients who are severely affected by acute porphyria. Working closely with our partner in Cardiff and Vale University Health Board, we provide immediate support for all patients who have an acute attack of porphyria in England, Scotland or Wales, and give specialist advice on the management of recurrent attacks. We also arrange specialist follow up outpatient clinics at either a national porphyria centre or one of our outreach centres.
Patients already known to the porphyria service can contact us on 020 3299 5776 for advice.
Patient information is also available from the British Porphyria Association.
Location
Ground floor, Cheyne Wing, King’s College Hospital, Denmark Hill, London, SE5 9RS
Contact Details
- Porphyria Service Secretary: 020 3299 4181
We offer both a clinical and laboratory service for patients with all forms of porphyria. Our clinical service has a particular focus on the acute porphyrias (acute intermittent porphyria, variegate porphyria and hereditary coproporphyria).
Most patients are seen in outpatient clinics. Inpatient porphyria care is usually provided at the patient’s local hospital, but occasionally inpatients may be transferred to King’s College Hospital.
Clinical advice is provided to healthcare professionals at the patient’s own hospital through a shared care arrangement. Haem arginate (Normosang) is currently the only specific treatment available to treat attacks of acute porphyria in the UK. It is supplied through NAPS when needed, including a home care service for the most severely affected patients. Patients who have had an acute attack are followed up in the service for two years and those with recurrent attacks are followed up indefinitely.
Porphyria testing
For suspected acute porphyria, the most useful test is measurement of urine porphobilinogen (PBG) on a random, light-protected, unpreserved urine sample, preferably collected when the patient has symptoms.
For suspected cutaneous porphyria or suspected acute porphyria in a patient without symptoms, send light-protected urine, blood and stool specimens.
Porphyria genetics is available in the Molecular Pathology Laboratory at King’s. An EDTA whole blood sample is required.
Contact the porphyrin laboratory on 020 3299 3856 for more information.
Booking a patient at King’s
GPs should refer via NHS e-referral (e-RS) wherever possible.
Other ways to refer
Routine Referrals
For tertiary or internal referrals contact the porphyria service secretary on 020 3299 4181 or email [email protected].
We recommend that patients with known or suspected cutaneous porphyrias (including porphyria cutanea tarda, erythropoietic protoporphyria and congenital erythropoietic porphyria) are referred to the Photodermatology service at Guy’s and St Thomas’ NHS Foundation Trust (GSTT).
Emergency Referrals
For patients already known to the King’s porphyria service:
- In working hours – contact the Red Cell Registrar via switchboard on 020 3299 9000 or contact the consultant via the porphyria service secretary on 020 3299 4181.
- Out of working hours – contact the on-call Haematology Registrar via switchboard (020 3299 9000).
For new patients with suspected or confirmed acute porphyria living anywhere in mainland Britain:
- NAPS provides urgent clinical advice to healthcare professionals 24 hours a day, seven days a week on 029 2074 7747.
Other Queries
Contact the porphyria specialist nurses on 020 3299 5776.
Key Clinical Staff
| Name | Role |
|---|---|
| Dr Penny Stein | Consultant |