Porphyria
Term grouping together various pathological manifestations due to a disturbance in the metabolism of porphyrins, a problem in the synthesis of hemoglobin.
Porphyrins are pigments, almost all of which are found in hemoglobin, myoglobin and respiratory enzymes. Porphyrins are precursor molecules of heme (non-protein part of hemoglobin).
Two main types of porphyria are diagnosed:
- <b>porphyrias induced by poisoning</b>: heavy metals, paint pigments (lead, cadmium, arsenic, etc.),
- <b>congenital porphyrias</b> (De Günther), which appear from childhood and persist into adulthood in the form of bulbous skin eruptions on areas of the body exposed to the sun and are often accompanied by various dystrophic lesions, hemolytic anemia...
Porphyrias are manifested by abdominal pain (without predominant localization but radiating towards the lower limbs): colitis and other digestive signs such as nausea, vomiting, constipation, sometimes alternating with episodes of diarrhea, by nervous disorders, by urinary retention or incontinence of urine and result in muscular weakness of the legs and arms or by psychological disorders (hysteria, depressions, phobias, psychoses, delusions, etc.).
Porphyria cutanea resembles congenital porphyria, but does not is not accompanied by dystrophy. It can appear in adulthood.
Acute intermittent porphyria (AIP) is the most common porphyria. It is a severe form of hepatic porphyria accompanied by nausea and vomiting.
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