Acute hepatic porphyria
A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.
* Fragile skin * Neuropathy * Abdominal pain * Coproporphyrin * Protoporphyrin * Severe skin photosensitivity * Fragile skin * Milia * Skin erosions * Skin blisters * Skin blisters * Growth of excess hair * Increased skin pigmentation * Severe abdominal pain * Nausea * Vomiting * Constipation * Abdominal distention * Paralysis of the bowel wall * Urinary retention * Tachycardia * Hypertension * Neuropathy * Motor symptoms * Muscle weakness * Sensory disturbances * Loss of pain sensation * Loss of touch sensation * Mental symptoms * Anxiety * Insomnia * Depression * Disorientation * Hallucination * Paranoia * Violence
VP arises from autosomal dominant inheritance of a gene mutation encoding a defective protoporphyrinogen oxidase enzyme protein with resultant deficient activity at approximately 50% of normal. The disease in most individuals with such a mutation remains clinically silent, but these persons are at risk of becoming symptomatic if exposed to environmental factors (most often drugs) that can induce overt phenotypical expression.
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Liver transplant has been used in the treatment of this condition.