Plasma dopamine beta-hydroxylase: rapid diagnostic test for recurrent hereditary polyserositis

The diagnosis of recurrent hereditary polyserositis (RHP; also known as familial Mediterranean fever) remains one of exclusion since there has been no specific diagnostic laboratory test. A previous study suggested that the disorder is related to abnormal catecholamine metabolism. Plasma dopamine beta-hydroxylase (DBH) activity was assayed spectrophotometrically in 91 RHP patients and 162 controls. The activity was significantly higher in untreated symptom-free patients and in patients with acute attacks, than in controls (mean [SEM] 155.8 [14.1] vs 43.3 [1.9] mumol/min/1 p less than 0.0001). Colchicine treatment reduced DBH activity to control levels. The test showed a high diagnostic accuracy and specificity for RHP, whether the patient was symptom-free or having an acute attack. Moreover, it is easy to carry out.