Clinical Manifestations and Diagnostic Dilemma in Acute Intermittent Porphyria
K Pramodh., S Jayakrishnan.
Abstract
K Pramodh., S Jayakrishnan.
Abstract
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme synthesis typically present in adulthood most often in women in reproductive age group. Porphyria is relatively an uncommon conditions and it should be consider in patient presenting with a typical medical psychiatric and surgical history. Paucity in clinical recognition of porphyria often leads to misdiagnosis, delay in diagnosis and subsequently treatment. Also, signs and symptoms mimic other medical and surgical conditions. The most common porphyria is acute intermittent porphyria. Awareness of porphyria along with the correct diagnostic tests in porphyria could help a long way to overcome the formidable challenges of porphyric patients. Here is a case of 21 years old woman who present with seizures and abdominal pain treated with antiepileptic drugs initially but later diagnosis as acute intermittent porphyria. This highlights the need for investigation porphyria in patient with acute abdomen psychiatric or neurological symptoms.
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Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme synthesis typically present in adulthood most often in women in reproductive age group. Porphyria is relatively an uncommon conditions and it should be consider in patient presenting with a typical medical psychiatric and surgical history. Paucity in clinical recognition of porphyria often leads to misdiagnosis, delay in diagnosis and subsequently treatment. Also, signs and symptoms mimic other medical and surgical conditions. The most common porphyria is acute intermittent porphyria. Awareness of porphyria along with the correct diagnostic tests in porphyria could help a long way to overcome the formidable challenges of porphyric patients. Here is a case of 21 years old woman who present with seizures and abdominal pain treated with antiepileptic drugs initially but later diagnosis as acute intermittent porphyria. This highlights the need for investigation porphyria in patient with acute abdomen psychiatric or neurological symptoms.
Key concepts: Porphyria, Acute intermittent porphyria, Medicine, Pediatrics, Abdominal pain, Dermatology, Surgery