About porphyria

Porphyrias are a group of uncommon disorders that are caused when there are problems with the production of chemicals called porphyrins in the body. Porphyrins are the chemical building blocks of haem, which form haemoglobin, the component of red blood cells that allows oxygen to be carried around the body. An increase in the amount of a specific porphyrin or a porphyrin precursor results in symptoms of porphyrias. Porphyrias are often separated into those that cause acute attacks and those that cause skin damage, although some disorders can have both types of symptoms.

Porphyrias that cause acute attacks are 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 gastrointestinal symptoms such as abdominal pain, nausea and vomiting; cardiac symptoms such as changes in blood pressure or increased heart rate; motor symptoms such as muscle weakness or paralysis; psychiatric symptoms such as anxiety, confusion or hallucinations; or central nervous system symptoms including seizures. HCP and VP can also cause cutaneous (skin) symptoms.

Cutaneous porphyrias cause skin-related symptoms and include Porphyria Cutanea Tarda (PCT), Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP) and X-linked dominant Protoporphyria (XLDPP). Skin porphyrias typically cause one of two types of symptoms: photosensitivity leading to pain immediately upon exposure to sunlight (e.g. EPP) or blistering and fragility of the skin in areas exposed to sunlight (e.g. PCT). Further information about porphyrias and patient support can be found via the British Porphyria Association website or by telephone on 0300 30 200 30.

Source: PBUL016 06/12/2023 Issue:1 Review:7