Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review

Gezgin Yıldırım D., Yıldız Yıldırım Ç., Karaçayır N., Esmeray Şenol P., Sunar Yayla E. N., Bakkaloğlu S. A.

CLINICAL RHEUMATOLOGY, cilt.42, sa.1, ss.277-283, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 42 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1007/s10067-022-06384-9
  • Dergi Adı: CLINICAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.277-283
  • Anahtar Kelimeler: Anakinra, Canakinumab, Hyperimmunoglobulin D syndrome, Macrophage activation syndrome, Mevalonate kinase deficiency, MEVALONATE KINASE-DEFICIENCY, PERIODIC FEVER, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, SERIES
  • Gazi Üniversitesi Adresli: Evet

Özet

Hyperimmunoglobulin D syndrome (HIDS) is a hereditary autoinflammatory disease characterized by recurrent inflammatory attacks with fever, abdominal pain, lymphadenopathy, aphthous stomatitis, and skin lesions. There are few reports on HIDS patients complicated with macrophage activation syndrome (MAS); however, to our knowledge, there is no case of HIDS with recurrent MAS attacks. We report two pediatric patients initially diagnosed as Kawasaki disease and systemic juvenile idiopathic arthritis presented with recurrent MAS episodes with prolonged fever, skin rash, hepatosplenomegaly, cervical lymphadenopathy, aphthous stomatitis, headache, pancytopenia, hyperferritinemia, and hypofibrinogenemia, finally diagnosed as HIDS with a documented homozygous MVK gene mutation. This is the first report on recurrent MAS attacks due to HIDS in pediatric patients who were successful treated with corticosteroids and anti-IL-1 therapies. Thus, clinicians should be vigilantly investigated signs of autoinflammatory diseases in patients with recurrent MAS attacks during their disease course, and HIDS should be considered an underlying disease for triggering recurrent MAS attacks. We have also reviewed the current literature regarding HIDS cases complicated with a MAS attack and summarized their demographic, treatment, and outcome characteristics.