Background The hyperimmunoglobulinemia D syndrome (HIDS),so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene MVK encoding mevalonate kinase enzyme.HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers and varying degree of skin involvement. Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a hereditary autoinflammatory syndrome characterized by recurrent attacks of high spiking fevers, usually of two to three weeks duration. The fever is typically accompanied by gastro-intestinal disturbances (abdominal pain, vomiting, and diarrhea), painful red skin rash, muscle pain and periorbital swelling. Amyloidosis is the most severe life-threatening complication of TRAPS, occurring in 14% of patients. We report two pediatric cases of HIDS and TRAPS resistant to TNF alpha inhibitor therapy.
Objectives Efficacy and safety of therapy with IL1 blocker (canakinumab) in children with TRAPS, HIDS.
Methods 2 patients with HIDS and 2 patients with TRAPS were followed over several years' period. All patients suffered from typical clinical features:bouts of fever, lymphadenitis and high laboratory inflammatory activity starting from first months of life. Attacks were often accompanied by rash and severe stomach ache and diarrhea. In all patients their respective diagnoses were confirmed genetically (mutations in MVK and TNFRSFIA genes). All patients were treated originally with steroids, then with various TNF-blockers (etanercept, infliximab) with no or minimal response.
Results Patients were initiated on IL-1 inhibitors therapy with Anakinra. Complete or almost complete clinical and laboratory remission was achieved in all four patients. Later 2 patients were switched to canakinumab therapy, with no side effects and continuous stable remission.
Conclusions In our group of patients with non-CAPS autoinflamatory syndromes IL-1 inhibitors (anakinra and canakinumab) demonstrated better efficacy compared to TNF inhibitors and is a safe treatment modality.
Disclosure of Interest None declared
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