Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria.
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.
Shiue
J W
JW
Lee
F Y
FY
Hsiao
K J
KJ
Tsai
Y T
YT
Lee
S D
SD
Wu
S J
SJ
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
D013974:Thyroxine