Porphyria

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Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They are broadly classified as acute (hepatic) porphyrias and cutaneous (erythropoietic) porphyrias, based on the site of the overproduction and accumulation of the porphyrins (or their chemical precursors). They manifest with either neurological complications or skin problems (or occasionally both). A clinically induced and histologically identical condition is called pseudoporphyria. Pseudoporphyria is characterized by normal serum and urine porphyrin levels.

The term derives from the Greek πορφύρα, porphyra, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of feces and urine in patients during an attack.[1] Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1874,[2] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.[1][3]

Contents

Signs and symptoms

Acute porphyria

The acute, or hepatic, porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, muscle weakness, seizures, and mental disturbances, including hallucinations, depression, anxiety, and paranoia. Cardiac arrhythmias and tachycardia (fast heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.

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