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THU0563 Characterization of A Group of 6 Patients with Mevalonate Kinase Deficiency: Symptoms and Treatment with IL-1 Inhibitors
  1. A. Kozlova1,
  2. N. Kuzmenko1,
  3. S. Zimin2,
  4. T. Varlamova1,
  5. A. Shcherbina1
  1. 1Immunology, Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology
  2. 2Immunology, Children's Clinical Hospital N9, Moscow, Russian Federation

Abstract

Background Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK gene. MKD patients typically have an early onset of symptoms including recurrent episodes of high fever, abdominal pain, diarrhea and vomiting, arthralgia and lymphadenopathy. However not all patients have typical clinical picture of MKD.

Methods We conducted a retrospective analysis of clinical features of six patients (4 females, 2 males) with MKD (confirmed by identification of MVK gene mutations). Four patients received therapy with inhibitors of IL-1 (Anakinra and/or Canakinumab). One of the patients died from amyloidosis and macrophage activation syndrome (MAS) prior to treatment initiation, her diagnosis was verified post mortem.

Results All patients had the first symptoms of disease within the first 6 months of life. During the course of the disease all patients had periodic fever and peripheral lymphadenopathy (mainly cervical group), as well as abdominal pain, nausea/vomiting. Five patients had diarrhea, sometimes with blood, one patient suffered from severe constipation. Rash was seen in five patients, myalgia, artralgia were observed only in four. Oral ulcers were noted in two children. Two patients had neurological involvement. Interestingly, five out of six patients had rhinitis during attacks. One patient during the attack had periorbital edema and hyperemia, which; to our knowledge, have not been reported previously in MKD. One patient developed amyloidosis and MAS before treatment initiation, which led to her death. In patients receiving anti-IL-1 therapy AIDAI index decreased from 49.5±14,6 before to 1,75±1,3 after 6 month of therapy (p=0.003).

Conclusions MKD symptoms can be variable and sometimes atypical, which requires physician's awareness. In our small cohort of MKD patients anti IL-1 therapy was highly effective.

Disclosure of Interest None declared

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