Acute intermittent porphyria: fatal complications of treatment.
Acute neurovisceral attacks of porphyria can be life threatening. They are rare and notoriously difficult to diagnose clinically, but should be considered, particularly in female patients with unexplained abdominal pain, and associated neurological or psychiatric features or hyponatraemia. The diagnosis might be suggested by altered urine colour and can be confirmed by finding an elevated porphobilinogen concentration in fresh urine protected from light. Severe attacks require treatment with intravenous haem arginate and supportive management with safe drugs, including adequate analgesia. Intravenous glucose in water solutions are contraindicated as they aggravate hyponatraemia, which can prove fatal.
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge. penelope.stein@addenbrookes.nhs.uk
P E
PE
Stein
M N
MN
Badminton
J H
JH
Barth
D C
DC
Rees
R
R
Sarkany
M F
MF
Stewart
T M
TM
Cox
D015746:Abdominal Pain / Q000209:etiology*; D000293:Adolescent; D000700:Analgesics / Q000627:therapeutic use; D001120:Arginine / Q000627:therapeutic use; D019468:Disease Management; D017809:Fatal Outcome; D005260:Female; D006212:Hallucinations / Q000209:etiology*; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D007010:Hyponatremia / Q000209:etiology*; D008991:Monitoring, Physiologic; D011162:Porphobilinogen / Q000652:urine; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D014882:Water-Electrolyte Balance
D000700:Analgesics; D006418:Heme; D011162:Porphobilinogen; D001120:Arginine; C048849:heme arginate