ABSTRACT
Acute intermittent porphyria is a rare autosomal dominant hereditary inborn error of metabolism of the heme biosynthetic pathway that can be exacerbated through a multitude of environmental factors. This article is a case study describing the pathophysiology, clinical presentation management, and exacerbation prevention of acute intermittent porphyria. The disease is clinically manifested with severe abdominal pain, confusion, and seizures which may be life threatening. Specific treatment with heme preparations should be instituted as soon as increased excretion of porphobilinogen through urine sampling is confirmed. Supportive treatment includes opiate analgesia, monitoring for and treating complications such as hypertension and hyponatremia. Follow-up should include family counseling regarding genetic defects and individual counseling regarding lifestyle changes including avoidance of environmental factors that have been implicated in the exacerbation of the disease.
Subject(s)
Abdominal Pain/etiology , Porphyria, Acute Intermittent/physiopathology , Abdominal Pain/diagnosis , Acute Disease , Adult , Critical Care , Emergency Medical Services , Female , Humans , Military Personnel , Nurse's Role , Porphyria, Acute Intermittent/diagnosis , Porphyria, Acute Intermittent/nursingABSTRACT
The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the United States. It is caused by a genetic defect in chromosome 11, where one of two genes for porphobilinogen deaminase is defective. Acute intermittent porphyria is characterized by intermittent, acute, occasionally fatal attacks of abdominal, neurologic, psychiatric, and renal symptoms. Attacks are often confused with acute abdomen or bowel obstruction. A variety of drug, hormonal, nutritional, and infectious factors can precipitate clinical symptoms. Managing patients with acute intermittent porphyria involves removing the precipitating factors, increasing carbohydrate intake, controlling pain, and administering medications. A case study is provided.
