Abstract
Acute intermittent porphyria (AIP) is a rare autosomal dominant hereditary metabolic disorder having protean manifestations. It usually presents with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. Here, we report a 23 years old married female nurse presenting with recurrent acute abdomen requiring frequent hospital admissions along with convulsion during her last attack. The presence of porphyrins in urine confirms the diagnosis of AIP.
Highlights
Acute intermittent porphyria (AIP) is an autosomal dominant disorder, resulting from partial deficiency of porphobilinogen deaminase (PBGD) enzyme in the haem biosynthetic pathway[1]
Repeat s. electrolyte showed persisting hyponatremia with sodium 127 mmol/L.The clinical scenario and presence of dark urine raised the suspicion of acute intermittent porphyria(AIP), further investigation revealed urinary sodium 48 mmol/day,S. osmolality 266 mosm/kg(proving the SIADH dure to AIP)
The diagnosis of AIP depends on clinical history and increased amount of porphyrins or porphyrin precursors in the urine, feces and blood.The presence of reduced erythrocyte PBG deaminase activity (PBGD) helps to confirm the diagnosis
Summary
Acute intermittent porphyria (AIP) is an autosomal dominant disorder, resulting from partial deficiency of porphobilinogen deaminase (PBGD) enzyme in the haem biosynthetic pathway[1]. Case Report: Mrs X, a 23 years old married, muslim female nurse presented to me with the complaints of diffuse abdominal pain for 5 days, vomiting for several episodes for 3 days and constipation for the same duration. Menstrual history was normal with the patient was in the luteal phase during presentation.
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