The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Groupe Français d'Etude Génétique des Spondylarthropathies

Arthritis Rheum. 2000 Jun;43(6):1356-65. doi: 10.1002/1529-0131(200006)43:6<1356::AID-ANR20>3.0.CO;2-Y.


Objective: To investigate the interrelationships among different phenotypes, and their relationship to the HLA-Blocus, in multiplex families with spondylarthropathy (SpA).

Methods: We recruited 115 white French families, each of which had at least 2 members with SpA. Pedigrees were established. Clinical data and pelvic radiographs were collected. The HLA-B27 status of all patients was determined. Analysis was performed to determine the prevalence of SpA manifestations according to sex, disease duration, and HLA-B status, and to examine clustering of specific manifestations in subsets of families.

Results: We identified 329 SpA patients. Mean +/-SD age at onset was 24+/-9.4 years. The male:female ratio was 186:143, or 1.3, with few sex differences in disease expression. Axial manifestations and HLA-B27 were each present in 97% of the patients. Inflammatory bowel disease and HLA-B35 were overrepresented in the 7 families containing HLA-B27-negative patients. The frequency of radiographic sacroiliitis increased in parallel with disease duration. Peripheral enthesitis, radiographic sacroiliitis, and psoriasis were evenly distributed in the families. Clustering independent of age was only observed for peripheral arthritis, suggesting that specific factors may predispose individuals to this manifestation.

Conclusion: Familial SpA appears to be homogeneous, based on the high frequencies of axial skeletal involvement and HLA-B27. The lack of clustering of most manifestations in families suggests that a predominant shared component, including HLA-B27, predisposes individuals to all forms of familial SpA, and that ubiquitous genetic or environmental factors contribute to phenotype diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cluster Analysis
  • Female
  • HLA-B Antigens / analysis
  • HLA-B14 Antigen
  • HLA-B27 Antigen / analysis
  • Humans
  • Male
  • Middle Aged
  • Spinal Diseases / complications
  • Spinal Diseases / genetics*
  • Spinal Diseases / immunology
  • Spinal Diseases / physiopathology
  • Time Factors


  • HLA-B Antigens
  • HLA-B14 Antigen
  • HLA-B27 Antigen