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.
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 |