The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Al‐Mayouf, Sulaiman M.; Almutairi, Nora; Al‐Ismail, Khalid

doi:10.4274/mirt.29484

Cited by 6 publications

(4 citation statements)

References 22 publications

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“…CACP syndrome patients do not respond to treatment with anti-inflammatory medication. Al-Mayouf et al [ 22 ] investigated the efficacy of Yttrium-90 radiosynovectomy in 6 children with CACP syndrome. Although this procedure was described as safe and well tolerated, their study did not show any benefit for arthropathy.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

et al. 2023

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Background Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan. Case presentation Herein, we report two siblings presented with chronic polyarthritis, had a prior diagnosis of juvenile idiopathic arthritis, but was subsequently diagnosed as CACP syndrome with novel mutation in the PRG4 gene. Conclusion Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.

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Section: Discussionmentioning

confidence: 99%

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

et al. 2023

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“…Four patients underwent surgical corrections of flexion contractures of fingers with success, and two patients underwent hip arthroplasty with pain relief and improved joint function ( 17 , 18 ). Six children underwent radiosynovectomy with no benefit ( 26 ). Finally, one patient underwent right femoral osteotomy and surgical repair of hallux valgus deformity, and two patients underwent pericardiectomy ( 9 , 23 , 28 ).…”

Section: Discussionmentioning

confidence: 99%

Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

et al. 2022

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Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12–36 months), and median age of diagnosis was 96 months (interquartile range of 48–156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.

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“…Defining monoJIA as a new and separate subtype of JIA may foresee a possible change in the therapeutic approach which, in addition to the consolidated IACS treatment, may also include alternative treatment modalities in the most severe or refractory cases, such as arthroscopic synovectomy [37,38] or radiosynoviorthesis, already used in adult RA [39,40] and in the pediatric age albeit in different conditions such as emophilia-related arthropathy [41], CACP syndrome [42] or others [43,44].…”

Section: Discussionmentioning

confidence: 99%

Monoarticular juvenile idiopathic arthritis as a distinct clinical entity A proof-of-concept study

Zulian,

Pierobon,

Zannin

et al. 2023

Pediatr Rheumatol

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Background Currently, monoarticular Juvenile Idiopathic Arthritis (monoJIA) is included in the ILAR classification as oligoarticular subtype although various aspects, from clinical practice, suggest it as a separate entity. Objectives To describe the clinical characteristics of persistent monoJIA. Methods Patients with oligoJIA and with at least two years follow-up entered the study. Those with monoarticular onset and persistent monoarticular course were compared with those with oligoJIA. Variables considered were: sex, age at onset, presence of benign joint hypermobility (BJH), ANA, uveitis, therapy and outcome. Patients who had not undergone clinical follow-up for more than 12 months were contacted by structured telephone interview. Results Of 347 patients with oligoJIA, 196 with monoarticular onset entered the study and 118 (60.2%), identified as persistent monoJIA, were compared with 229 oligoJIA. The mean follow-up was 11.4 years. The switch from monoarticular onset to oligoarticular course of 78 patients (38.8%) occurred by the first three years from onset. In comparison with oligoJIA, the most significant features of monoJIA were later age at onset (6.1 vs. 4.7 years), lower female prevalence (70.3 vs. 83.4%), higher frequency of BJH (61.9 vs. 46.3%), lower frequency of uveitis (14.4 vs. 34.1%) and ANA+ (68.6 vs. 89.5%) and better long-term outcome. Conclusions MonoJIA, defined as persistent arthritis of unknown origin of a single joint for at least three years, seems to be a separate clinical entity from oligoJIA. This evidence may be taken into consideration for its possible inclusion into the new classification criteria for JIA and open new therapeutic perspectives.

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The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Cited by 6 publications

References 22 publications

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

Monoarticular juvenile idiopathic arthritis as a distinct clinical entity A proof-of-concept study

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