Abstract
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.
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Abbreviations
- CACP:
-
Camptodactyly arhthropathy coxa-vara pericarditis
- ESR:
-
Erythrocyte sedimentation rate
- RHD:
-
Rheumatic heart disease
- CCF:
-
Congestive cardiac failure
- JIA:
-
Juvenile idiopathic arthritis
- NYHA:
-
New York Heart Association
- 2DE:
-
2-Dimensional echocardiography
- DMARD:
-
Disease modifying anti-rheumatic drugs
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NJ: conceptualization, writing–original draft, writing–review and editing, patient management, and literature review, HC: conceptualization, writing–original draft, writing–review and editing, patient management, and literature review, RK: genetic testing, review of literature, and preparation of first draft, RKP: patient management, literature review, and editing of manuscript, YS: patient management, literature review, and editing of manuscript, AS: patient management, literature review, and editing of manuscript, AK: patient management, literature review, and editing of manuscript, SM: patient management, literature review, and editing of manuscript, NK: histopathological examination of biopsies, and literature review, PV: patient management, supervision, editing of manuscript, critical appraisal, and final approval of manuscript.
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Johnson, N., Chaudhary, H., Kumrah, R. et al. Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Rheumatol Int 41, 1875–1882 (2021). https://doi.org/10.1007/s00296-020-04688-0
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DOI: https://doi.org/10.1007/s00296-020-04688-0