Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the PRG4 gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.

[1]  Mark W. Youngblood,et al.  Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome , 2018, Molecular genetics & genomic medicine.

[2]  S. Al‐Mayouf,et al.  The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome , 2017, Molecular imaging and radionuclide therapy.

[3]  A. Dalal,et al.  Brothers with constrictive pericarditis – A novel mutation in a rare disease , 2016, Indian heart journal.

[4]  M. Prakash,et al.  Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis , 2016, Scandinavian journal of rheumatology.

[5]  G. Jay,et al.  The interaction of lubricin/proteoglycan 4 (PRG4) with toll-like receptors 2 and 4: an anti-inflammatory role of PRG4 in synovial fluid , 2015, Arthritis Research & Therapy.

[6]  Tannin A Schmidt,et al.  Lubricin/Proteoglycan 4 Binding to CD44 Receptor: A Mechanism of the Suppression of Proinflammatory Cytokine–Induced Synoviocyte Proliferation by Lubricin , 2015, Arthritis & rheumatology.

[7]  T. Kendirli,et al.  Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. , 2014, The Turkish journal of pediatrics.

[8]  R. Cate,et al.  CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort , 2013, European Journal of Human Genetics.

[9]  S. Al‐Mayouf,et al.  Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. , 2013, Seminars in arthritis and rheumatism.

[10]  Tannin A Schmidt,et al.  Transcription, translation, and function of lubricin, a boundary lubricant, at the ocular surface. , 2013, JAMA ophthalmology.

[11]  L. Al-Gazali,et al.  A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[12]  S. Basit,et al.  A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. , 2011, Archives of medical research.

[13]  Niclas G Karlsson,et al.  The glycosylation of human synovial lubricin: implications for its role in inflammation. , 2010, The Biochemical journal.

[14]  A. Alazami,et al.  Novel PRG4 mutations underlie CACP in Saudi families , 2006, Human mutation.

[15]  Y. Nakamura,et al.  Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes , 2000, Cytogenetic and Genome Research.

[16]  S. Schwartz,et al.  CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome , 1999, Nature Genetics.

[17]  H. Yazici,et al.  A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. , 1986, Arthritis and rheumatism.