Congenital Erythropoietic Porphyria
What else is it called?
Get in touch
Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.
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What causes it?
The porphyrias are a group of eight relatively rare genetic disorders. In each porphyria a specific enzyme needed to complete a step in the pathway to produce haem (a necessary element of blood), is faulty. Porphyrins accumulate causing severe medical problems. The type of porphyria varies according to the enzyme which is affected. The porphyrias are broadly divided into acute and cutaneous (skin), although some porphyrias suffer from both sets of symptoms (VP and HCP). The severity of symptoms varies dramatically in all types of porphyria. For the skin porphyrias they experience extreme sensitivity to sunlight and visible light which can vary from sensitivity and burning to severe blistering and scarring. For the acute porphyrias severe pain, paralysis and sickness can be experienced when in an acute attack. Hospitalisation is usually required to treat attacks of the acute porphyrias in order to monitor and treat the patient’s condition. But no matter which type, the more knowledgeable about their condition a patient is, the more they are likely to stay well.
How common is it?
What are the signs and symptoms?
How is it diagnosed?
Can it be treated?
Do my family need to be tested?
Thank you to British Porphyria Association for helping provide this up-to-date information.
The British Porphyria Association (BPA) was established in 1999 by a group of patients and relatives who had experienced isolation and difficulties due to a general lack of understanding in diagnosing and treating their conditions. The BPA became a registered charity in 2001 and is run by a committee of volunteers.
Their primary aim is to support and educate patients, relatives and medical professionals about the porphyrias, so as to improve the lives of those living with the effects of the conditions. Additionally, they aim to promote research into this group of rare conditions.
The ‘porphyrias’ are a group of rare disorders that are usually inherited. They are broadly separated into acute and cutaneous (skin) depending on the types of symptoms suffered.
Although the disorders can in some cases be very severe and are often portrayed in a dismal light, there are many reasons to be optimistic. With the right information and advice, many people can continue to live life to the full.
Early diagnosis is vital if we are to improve the quality of life for those affected by it.
Through ongoing themes of CONNECT, UNDERSTAND and TAKE CONTROL, the BPA aims to:
SUPPORT & EDUCATE
- Raise awareness and improve understanding of the porphyrias
- Educate patients and their families and provide an emotional support system
- Engage and support young people
- Focus on mental health and wellbeing
- Signpost to doctors and specialists
- Facilitate greater understanding in the medical profession
- Provide a grant/aid fund to help porphyria patientsRESEARCH
- Keep patients updated with new research
- Improve the way medical trials are designed to reflect what is important to patients
- Provide funding and encourage research in porphyria
There are specific leaflets for each of the different porphyrias: www.porphyria.org.uk/leaflets which can be helpful when talking with medical professionals, education establishments and for use in the workplace too.
BPA Contact Details:
- Phone 03003020030
- Email firstname.lastname@example.org
- Website www.porphyria.org.uk