Korean J Pediatr.  2016 Oct;59(10):421-424. 10.3345/kjp.2016.59.10.421.

Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis

• Park JH
• Seo YM
• Han SB
• Kim KH
• Rhim JW
• Chung NG
• Kim MS
• Kang JH
• Jeong DC

• KMID: 2355571
• DOI: http://doi.org/10.3345/kjp.2016.59.10.421

Abstract

Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been diagnosed with hemophagocytic lymphohistiocytosis (HLH) 4 different times, which was well controlled with intravenous immunoglobulin and steroids since the age of 3. We were unable to identify the cause for the HLH. He remained symptom-free until the development of back pain and right ankle joint pain with swelling at 15 years of age. He was diagnosed with HLA B27-positive AS with bilateral active sacroiliitis. He showed symptom aggravation despite taking naproxen and methotrexate, and the symptoms improved with etanercept. On admission, his laboratory data showed leukopenia with high ferritin and triglyceride levels. Bone marrow biopsy examination showed histiocytic hyperplasia with hemophagocytosis. There was no evidence of infection. He received naproxen alone, and his symptoms and laboratory data improved without any other immunomodulatory medications. Genetic study revealed no primary HLH or inflammasome abnormalities. In this case, underlying autoimmune disease should have been considered as the cause of recurrent MAS in the young patient once primary HLH was excluded.

Keyword

Macrophage activation syndrome; Ankylosing spondylitis; HLA-B27

MeSH Terms

Abscess
Adolescent*
Ankle Joint
Autoimmune Diseases
Back Pain
Biopsy
Bone Marrow
Etanercept
Ferritins
HLA-B27 Antigen
Humans
Hyperplasia
Immunoglobulins
Inflammasomes
Leukocytes
Leukopenia
Lymphohistiocytosis, Hemophagocytic
Macrophage Activation Syndrome*
Macrophage Activation*
Macrophages*
Malaria
Male*
Methotrexate
Naproxen
Pancytopenia
Sacroiliitis
Splenomegaly
Spondylitis, Ankylosing*
Steroids
Triglycerides
Etanercept
Ferritins
HLA-B27 Antigen
Immunoglobulins
Inflammasomes
Methotrexate
Naproxen
Steroids