Increased urinary leukotriene E4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome

Background-The hyperimmunoglobulinaemia D and periodic fever syndrome is a hereditary periodic fever, caused by deficiency of the enzyme mevalonate kinase. It is unclear how this defect leads to recurrent fever episodes. Aim-To assess the involvement of cysteinyl leukotrienes in the pathogenesis of fever attacks as reflected by urinary leukotriene E-4 (LTE4) excretion. Methods-Urinary LTE4 was measured in seven patients while febrile and afebrile. Results-LTE4 was raised during fever in all subjects (46-199 nmol/mol creatmine, mean 92; normal <40). Urinary LTE4 was normal between attacks, as well as in normal children with fever as a result of miscellaneous causes. Conclusion-Our results suggest that cysteinyl leukotrienes play a role in the pathophysiology of this disorder. As no effective treatment is yet available, leukotriene receptor antagonists might offer a new therapeutic approach for patients with the hyperimmunoglobulinaemia D and periodic fever syndrome.