06. tbl. 96.árg. 2010

Acute abdominal pain caused by acute intermittent porphyria – case report and review of the literature

Bráðir kviðverkir af völdum slitróttrar bráðaporfýríu – sjúkratilfelli og yfirlit

We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain. Porphyrias are caused by decreased enzyme activity in the heme biosynthetic pathway leading to overproduction of heme precursors if demand increases. This can cause symptoms such as abdominal pain, nausea and vomiting, constipation, tachycardia and hypertension. Treatment includes removal of causative factors, administration of carbohydrates or hemin to reduce the production of heme precursors as well as symptomatic treatment.


Figure I.

Mynd-1-a-ensku

Table I.

  On admission 3rd day 5th day
White blood cells (x109/l) [4,0-10,5] 6,5 - -
Hemoglobine (g/L) [118-152] 166* 173* 145
Blood platelets (x109/L) [150-400] 137* - -
Sodium (mmol/L) [137-145] 133* 119* 134*
Osmolalitet (mosm/kg) [280-300] - 246* -
Potassium (mmol/L) [3,5-5,0] 3,7 3,5 3,5
Creatinine (µmol/L) [50-90] 74 59 69
Lipase (U/L) [25-300] 271 1282* 186
Amylase (U/L) [25-120] - 209* 61
ASAT (U/L) [<35] 74* 60* -
ALAT (U/L) [<45] 112* 97* -
CRP (mg/L) [<3] <3 - -
* Abnormal results


Units given in parenthesis and normal values in brackets


Table II.

    Frequency of occurrence
Autonomic neuropathy  
  Abdominal pain 85-95%
  Nausea, vomiting 43-88%
  Constipation 48-84%
  Tachycardia 64-85%
  Systemic hypertension 36-55%
Peripheral neuropathy  
  Pain in extremities, back, chest, neck, head 50-70%
  Paresis, most often in proximal muscles 42-68%
  Respiratory paralysis 9-20%
  Sensory loss  
  Urinary retention  
Central nervous system involvement  
  Agitation, insomnia, confusion, hallucinations, depression, anxiety 40-58%
  Convulsions 10-20%
Hyponatremia  




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