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Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria
Taiwan Yi Xue Hui Za Zhi. Journal of the Formosan Medical Association
|July 1, 1989
Summary
Acute intermittent porphyria (AIP) can present with unusual symptoms like abdominal pain, high thyroxine, and hypercholesterolemia. Early screening with the Watson-Schwartz test is recommended for suspected AIP cases.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Background:
- Acute intermittent porphyria (AIP) is an inherited disorder affecting heme synthesis.
- It is characterized by gastrointestinal and neurological symptoms due to the accumulation of porphyrin precursors.
Observation:
- A patient presented with recurrent abdominal pain, elevated serum thyroxine, and hypercholesterolemia.
- Diagnostic workup revealed high urinary porphobilinogen and low erythrocyte hydroxymethylbilane synthase activity, confirming AIP.
Findings:
- Treatment with high carbohydrate intake and propranolol led to gradual symptom improvement over 3 weeks.
- The patient remained asymptomatic during a 6-month follow-up, with normalized thyroid and cholesterol levels.
Implications:
- This case highlights the importance of considering AIP in patients with unexplained abdominal pain, abnormal thyroid function, and hypercholesterolemia.
- The Watson-Schwartz urine test is a valuable screening tool for AIP, with erythrocyte hydroxymethylbilane synthase activity assay for confirmation.