Cause
The condition is usually caused by a genetic deficiency, but is can happen (in about 28% of cases) without family history (called de novo mutations). Chemicals which affect metabolism may also cause it. Arsenic is one example. It can be triggered by various drugs or by some environmental conditions.
Symptoms
The disease causes skin problems, or some diseases of the nervous system, or both. Severe pain is often present. Medications are available that can at least treat the symptoms. It is most common in people between the ages of 18 to 40 years old.
Acute
Acute attacks are[5] Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and ALA dehydratase deficiency porphyria (ADP).
These tend to cause attacks in adults and the main symptoms can include:[5]
- gastrointestinal symptoms such as
- abdominal pain, nausea and vomiting
- cardiac symptoms such as
- changes in blood pressure, increased heart rate
- motor symptoms such as
- muscle weakness, paralysis
- psychiatric symptoms such as
- anxiety, confusion or hallucination
- or central nervous system (CNS) symptoms:
- seizures.
HCP and VP can also cause cutaneous symptoms.[5]
Cutaneous porphyrias
These are[5] Porphyria Cutanea Tarda (PCT), Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP) and X-linked dominant Protoporphyria (XLDPP).
Skin porphyrias cause skin-related signs and symptoms, typically causing one of two types of symptoms:[5]
- photosensitivity leading to pain straight away upon exposure to sunlight (e.g. EPP)
- blistering and fragility of the skin in areas exposed to sunlight (e.g. PCT).
When someone is affected by porphyria they will start to lose their hair about two weeks after having an attack. There is no cure for the hair loss. However, there is medication available to help prevent attacks.
References
- 1 2 "porphyria". MedlinePlus. July 2009. Retrieved 31 March 2021.
- 1 2 3 4 5 "Porphyria | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2018-12-06.
- ↑ Dancygier, Henryk (2009). Clinical Hepatology: Principles and Practice of Hepatobiliary Diseases. Springer Science & Business Media. p. 1088. ISBN 9783642045196. Archived from the original on 8 September 2017.
- ↑ "Porphyria". King's College Hospital NHS Foundation Trust. Retrieved 2024-05-28.
- 1 2 3 4 5 6 "About porphyria". NHS Tayside. December 2023.