Arthritis associated with deletion of 22q11.2: More common than previously suspected

✍ Scribed by Keenan, Gregory F.; Sullivan, Kathleen E.; McDonald-McGinn, Donna M.; Zackai, Elaine H.

• Book ID: 101210093
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 2 KB
• Volume: 71
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970905)71:4<488::aid-ajmg23>3.0.co;2-b

✦ Synopsis

We read with great interest the recent article ''Juvenile Rheumatoid Arthritis in Velo-Cardio-Facial Syndrome: Coincidence or Unusual Complication?'' by Rasmussen et al. [1996]. We think this association is not a coincidence and suggest a modification of the term use by the authors, based on currently accepted nomenclature.

We have reported on three patients with a 22q11.2 deletion and a polyarthropathy [Zackai et al., 1996;Sullivan et al., 1997]. Recently, Curry et al. [1996] presented a single case recently. This month we evaluated an additional patient with the deletion and polyarthropathy. Thus, we conclude that this combination does not occur by chance but probably represents a component manifestations which can occur in the child with 22q11.2 deletion syndrome. We have found a tendency to delayed reconstitution of lymphocyte populations in affected children. In addition, HLA typing in our three cases has demonstrated markers present with increased frequency in children with juvenile rheumatoid arthritis. Results of synovial biopsies in two of the three children are similar to those seen in children with JRA.

However, we emphasize that the diagnosis of JRA is one of exclusion [Brewer et al., 1977]. As with other syndromes in which arthritis occurs at a frequency greater than that which would be expected in the normal population, use of term JRA is not entirely correct. We suggest that the ''JRA-like'' athropathy occurring in patients with VCFS be termed the arthropathy of the 22q11.2 deletion syndrome.