Acute intermittent porphyria: clinical analysis of nine cases.
BACKGROUND
Acute intermittent porphyria (AIP) is an uncommon disorder, characterized by a variety of nonspecific symptoms and signs. Many patients have undergone prolonged medical care for the condition without accurate diagnosis; some have even received unnecessary operation. Here the clinical features of nine cases are presented.


METHODS
Nine patients with AIP were diagnosed and treated at this hospital during the period for 1986 to 1993. The medical records of these patients were reviewed, and diagnosis of AIP in all cases was confirmed by positive Watson-Schwartz test. In three cases, further confirmation was done with erythrocyte porphobilinogen (PBG) deaminase activity measurement. Patients with photosensitivity were excluded.


RESULTS
All patients presented initially with abdominal pain; two had been operated upon for acute abdomen. Neurological presentations at diagnosis were motor and/or sensory polyneuropathy (6/9), autonomic dysfunction (6/9), mental change (5/9) and seizure (4/9). Two cases had hyponatremia. One patient died of intractable seizures.


CONCLUSIONS
AIP is a frequently forgotten old disease; if not correctly recognized, repeated and unnecessary surgery may occur. However, the diagnosis is easy when the possibility of this disorder is kept in mind.
Section of Neurology, Cathay General Hospital, Taipei, Taiwan, R.O.C.
C C
CC
Chen
P
P
Thajeb
S K
SK
Lie
D000208:Acute Disease; D000328:Adult; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D008297:Male; D011164:Porphyrias / Q000175:diagnosis*
D011163:Hydroxymethylbilane Synthase