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THU0497 Rheumatological manifestations of x-linked agammaglobulinemia: profile of 17 cases from a tertiary care center in north india
  1. A Gupta,
  2. D Suri,
  3. A Gupta,
  4. A Rawat,
  5. S Singh
  1. Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India, Chandigarh, India

Abstract

Background X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial sino-pulmonary infections. Arthritis can be seen in 10–30% patients of hypogammaglobulinemia (1) and is usually a mono- or oligoarthritis of large joints, but polyarthritis has also been defined.

Objectives We describe our experience of managing children with XLA who presented with rheumatological manifestations.

Methods Sixty two children were diagnosed with XLA during the last 10 years in Primary Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Seventeen children had rheumatological manifestations. A retrospective case review with respect to clinical presentation, musculoskeletal findings and treatment was done.

Results Rheumatological manifestations were seen in 27.4% patients of XLA. Thirteen out of 17 patients had a proven mutation in Btk gene. Mean age at symptom onset was 3.3 years (range 6 months – 13 years) and mean age at diagnosis of XLA was 5.6 years (range 1.5- 10 years). Rheumatological manifestations were seen at a mean age of 8.7 years (range 1.5- 20 years). In 2 patients, arthritis preceded the diagnosis of XLA while 10 patients developed rheumatological manifestations after the diagnosis of XLA. Arthritis as an initial presentation of XLA was seen in 5 patients.

Oligoarthritis was the most common presentation seen in 15 patients. Knee was the most commonly involved joint (11 patients) followed by ankle joint in 5 patients and shoulder, wrist and hip arthritis in 2 patients each. One patient each had arthritis involving proximal interphalangeal joints of both hands, clinical evidence of sacroiliitis and spondylodiscitis involving L4–5 and L5-S1 vertebrae. Three patients manifested as septic arthritis (fever, redness, warmth and pus in joint) involving shoulder, ankle and knee joint respectively.

Joint aspiration and/or arthrotomy had been performed in 8 patients, however cultures were sterile in all. Microbiological investigations for mycoplasma infection (viz. culture and polymerase chain reaction) in joint fluid/pus could not be performed due to unavailability. All patients received replacement intravenous immunoglobulin (IVIG - 400 mg/kg body weight) and co-trimoxazole prophylaxis. Eight patients received macrolide antimicrobials (erythromycin or azithromycin) for clinical suspicion of mycoplasma arthritis.

One patient expired during the course of his illness while four patients were lost to follow up. Arthritis showed clinical improvement after IVIG replacement therapy in remaining 12 patients with resolution of arthritis after first dose in 11 patients and after 6 months of replacement therapy in 1 patient. None of the patients had recurrence of joint symptoms on follow up, however radiological evidence of spondylodiscitis persisted in one patient.

Conclusions Arthritis is a relatively frequent manifestation in patients with hypogammaglobulinemia. Family history and history of recurrent infections in a child with arthritis may provide a clue towards the diagnosis of primary immunodeficiency. Prompt institution of regular IVIG replacement therapy results in resolution of arthritis and prevents its recurrence.

Disclosure of Interest None declared

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