CACP: eine seltene Differenzialdiagnose der juvenilen idiopathischen Arthritis

Zusammenfassung

Das Kampodaktylie-Arthropathie-Coxa-vara-Perikarditis (CACP) -Syndrom ist eine seltene, autosomal-rezessive Erkrankung, die auf Mutationen im Proteoglycan-4-Gen zurückzuführen ist (OMIM #208250). Im Krankheitsverlauf steht eine progrediente, nicht inflammatorische Arthropathie im Vordergrund, wobei manche Patienten eine kardiale Beteiligung entwickeln. Berichtet wird über einen 3½-jährigen Jungen und ein 6-jähriges Mädchen, die unter der Diagnose einer therapieresistenten Rheumafaktor-negativen Polyarthritis mit intensiver antirheumatischer Behandlung erstmals im Deutschen Zentrum für Kinder- und Jugendrheumatologie vorgestellt wurden. Beide Patienten wiesen typische klinische Symptome eines CACP auf. Anhand anamnestischer Hinweise und einzelner diagnostischer Schritte konnte diese seltene Erkrankung zunächst eingegrenzt und in einem weiteren Schritt durch eine genetische Diagnostik bei beiden Kindern belegt werden.

Summary

Campodactyly arthropathy coxa vara pericarditis syndrome (CACP) is a rare autosomal recessive disorder due to mutations in the proteoglycan 4 gene (OMIM #208250). Main features are a progressive non-inflammatory arthropathy, campodactyly with some patients developing cardiac involvement. We present a case report of a 3-and-a-half-year-old boy and a 6-year-old girl both referred to the German centre for Pediatric and adolescent rheumatology with a diagnosis of refractory rheumatoid factor-negative polyarthritis. They both had received an intensive antirheumatic treatment including biologicals. The patients had at presentation typical clinical symptoms of CACP. Based on anamnestic evidence and individual diagnostic steps, this rare disease could finally be proven by genetic diagnostics in both children.

Schlüsselwörter

Differenzialdiagnose juvenile idiopathische Arthritis - genetische Erkrankung - Arthropathie - Coxa vara - Perikarditis

Keywords

Juvenile idiopathic arthritis - non-inflammatory arthropathy - campodactyly - coxa vara

Publication History

Article published online:
14 December 2021

• Literatur

• 1 Yilmaz S, Alkaya DU, Kasapcopur O. et al Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy- coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med 2018; 6 (02) 230-248
• 2 Al-Mayouf SM. Noninflammatory disorders mimic juvenile idiopathic arthritis. Int J Pediatr Adolesc Med 2018; 5 (01) 1-4
• 3 Bulutlar G, Yazici H, Ozdogan H. et al A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. Arthritis Rheum 1986; 29 (03) 436-438
• 4 Häfner R, Haas JP. Genetic Arthropathy and Skeletal Dysplasia: Differential Diagnosis in Painful and Contracted Joints. Akt Rheumatol 2016; 41 (05) 396-404
• 5 Offiah AC, Woo P, Prieur AM. et al Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. American Journal of Roentgenology 2005; 185: 522-529
• 6 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 2021; 41 (010) 1875-1882
• 7 Jay GD, Britt DE, Cha CJ. The role of lubricin in the mechanical behavior of synovial fluid. J Rheumatol 2000; 27 (03) 594-600
• 8 Bahabri SA, Suwairi WM, Laxer RM. et al The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 1998; 41 (04) 730-735
• 9 Marcelino J, Carpten JD, Suwairi WM. et al CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 1999; 23 (03) 319-322
• 10 Madhusudan S, Gupta A, Prakash M. et al Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis. Scand J Rheumatol 2015: 1-2
• 11 Kakkar RM, Soneji S, Badhe RR. et al Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: Important Differential for Juvenile Idiopathic Arthritis. J Clin Imaging Sci 2013; 3 (024) PMID: 24083061; PMCID: PMC3779395
• 12 Bram P, Schuurs-Hoeijmakers JHM, Fuijkschot J. et al Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Pediatr Rheumatol Online J 2016; 14 (01) 32
• 13 Albuhairan I, Al-Mayouf SM. Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: Clinical and molecular genetic findings in 22 patients. Semin Arthritis Rheum 2019; 43 (02) 292-296
• 14 Das N, Schmidt TA, Krawetz RJ. et al Proteoglycan 4: From Mere Lubricant to Regulator of Tissue Homeostasis and Inflammation: Does proteoglycan 4 have the ability to buffer the inflammatory response?. BioEssays 2019; 41 (01) e1800166 Epub 2018 Nov 28. PMID: 30485469
• 15 Suwairi WM, Bahabri SA, Laxer RM. et al Autosomal recessive camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to chromosome 1q25-31. Am. J. Hum Genet 1998; 41 (04) 730-735
• 16 Cole WG, Mäkitie O. Primary Disorders of Connective Tissue. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn L, Hrsg. Textbook of Pediatric Rheumatology, 7^th ed. Philadelphia, PA: Elsevier; 2015: 706-719