title: Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria.
abstract: Acute intermittent porphyria is a genetic hepatic porphyria characterized by acute gastrointestinal and neurological symptoms, and accompanied by excess excretion of delta-aminolevulinic acid and porphobilinogen. Here, we report a case of acute intermittent porphyria with attacks of abdominal pain, an elevated serum thyroxine level, and hypercholesterolemia with an increased level of high-density lipoprotein-cholesterol concentration. The diagnosis of acute intermittent porphyria was confirmed by a high urinary excretion of porphobilinogen and a low level of erythrocyte hydroxymethylbilane synthase activity. After being treated with a high carbohydrate intake and propranolol, the patient improved gradually during the following 3 weeks. The patient remained asymptomatic during the 6-month follow-up period. The serum thyroxin and cholesterol levels returned to normal 6 months later. In conclusion, we suggest that for any patient who presents with unexplained abdominal pain, abnormal thyroid function and hypercholesterolemia, a simple Watson-Schwartz urine test should be performed for the screening of acute intermittent porphyria. If the Watson-Schwartz test is positive, the erythrocyte hydroxymethylbilane synthase activity should be determined to confirm the diagnosis of acute intermittent porphyria.
authors: J W
authors: JW
authors: Shiue
authors: F Y
authors: FY
authors: Lee
authors: K J
authors: KJ
authors: Hsiao
authors: Y T
authors: YT
authors: Tsai
authors: S D
authors: SD
authors: Lee
authors: S J
authors: SJ
authors: Wu
mesh_terms: D000208:Acute Disease; D000328:Adult; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000209:etiology / Q000503:physiopathology*; D008107:Liver Diseases / Q000150:complications* / Q000628:therapy; D011164:Porphyrias / Q000150:complications* / Q000628:therapy; D013961:Thyroid Gland / Q000503:physiopathology*; D013974:Thyroxine / Q000097:blood
chemical_list: D013974:Thyroxine