TITLE:
Familial Forms of Spondyloarthritis: A Study of 100 West African Multiplex Families
AUTHORS:
Adama Bah, Chiekh Ahamadou Bamba Diaw, Dieynaba Sala Tamara Kane, Adama Doucouré, Siddiki Charifah, Ramadhane Bouchrane, Harine Abdel Aziz Garba, Aissatou N’diaye, Mondukpe Joane Immanuelle Houansou, Laurine Marlyse Adogle, Yaye Aminata Gueye, Moustapha Niasse, Saidou Diallo
KEYWORDS:
Familial Forms of Spondyloarthritis, Propositus, Senegal
JOURNAL NAME:
Open Journal of Rheumatology and Autoimmune Diseases,
Vol.14 No.3,
August
6,
2024
ABSTRACT: Introduction: Spondyloarthritis (SpA) comprises a group of chronic inflammatory rheumatic diseases characterized by predominant axial involvement. These include ankylosing spondylitis (AS), reactive arthritis (ReA), psoriatic arthritis (PsA), arthritis associated with inflammatory bowel diseases (IBD), SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis), juvenile spondyloarthritis (JSPA), and undifferentiated SpA. Their exact cause is unknown but is believed to stem from a combination of factors. The first familial forms were described by de Blécourt et al. in 1961. The objective was to evaluate the epidemiological, clinical, therapeutic and evolutionary aspects of familial forms of SpA and in particular, to prove the severity of the disease in family members compared to index cases in the rheumatology department of the Aristide Le Dantec University Hospital in Dakar. Methodology: This was a prospective, cross-sectional and descriptive study with an analytical aim on patients with the familial form of spondyloarthritis defined by the existence of at least one other family member with SpA outside the propositus, collected within the Aristide Le Dantec rheumatology department in Dakar over a period of 10 years between January 2012 and December 2021. There were two phases of study, the first of which consisted of collecting index cases with miserly SpA and the second of which consisted of family screening after consent. The data analysed were epidemiological, clinical, paraclinical, therapeutic and evolving. Results: Out of 100 families of 1905 members, 667 SpA patients included, i.e. a prevalence of 35%, including 225 (33.73%) men and 412 women (61.17%), i.e. a ratio of 1.8. The mean age at diagnosis among relatives was 26.3 years (range 13 and 80 years), 47.14 years among the propositus, in whom the mean age at onset was 36.26 years and that of relatives 49.9 years in the first degree, 15 years in the second degree and 1 year in the third degree. The time to diagnosis was 11.20 years in the first degree, 2.5 years in the second degree, 1 year in the third degree and 10.88 years in the case of the proposes. The number of marriages in families was 420 of which 116 were consanguineous (consanguinity rate 27.62%), 19% among the propositus. HLA-B27 positive in 92% of the proposers and 33.43% in the families; 70% of the propositus had an inflammatory syndrome and 17.54% in the families; 87% of sacroilliitis in the propositus and 5.54% in the families. Clinical forms were dominated by undifferentiated SpA (338 cases) and APS (295 cases). The average BASFI was 3.23 on D0; 2.59 in the 3rd month and 1 in the 6th month for the propositus versus 2.55 at D0; 1.86 at the 3rd month and 1.55 in the 6th month in the families. Average BASDAI was 3.92 at D0; 3.12 at the 3rd month and 2.07 at the 6th month in the propositus and 3 at D0; 2.21 at the 3rd month and 1 at the 6th month in the families. Autoimmune associated conditions were 18 cases, degenerative 24 cases, autoinflammatory 2 metabolic cases 18 cases. They all received: NSAIDs, methotrexate, salazopyrine (11 cases) and anti-TNF-α (1 case). The evolution was generally favourable. Conclusion: SpA is on the rise in Senegalese hospitals, frequent in young people, SPA and undifferentiated SpA are the most frequent, management is essentially based on conventional care, and the disease is less severe in family members than index cases.