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
References
[1]
Corinne, M.-R. (2010) HLA B27 et spondyarthropaties. Revue du rhumatisme, 77, 288-292. https://doi.org/10.1016/j.monrhu.2010.07.003
[2]
Sibilia, J., Pham, T., Sordet, C., Jaulhac, B. and Claudepierre, P. (2005) Spondylarthrite ankylosante et autres spondylarthropathies. EMC-Médecine, 2, 488-511. https://doi.org/10.1016/j.emcmed.2005.08.005
[3]
Cotten, A., Philippe, P. and Flipo, R.-M. (2013) Spondyloarthritis. In: Cotten, A., Ed., ImagerieMusculosquelettique: Pathologies Générales, Masson, 137-187. https://doi.org/10.1016/B978-2-294-71924-0.00004-8
[4]
Claudepierre, P. and Wendling, D. (2009) Ankylosing Spondyloarthritis. Masson.
[5]
Mangone, M., Paoloni, M., Procopio, S., et al. (2020) Sagittal Spinal Alignment in Patients with Ankylosing Spondylitis by Rasterstereographic Back Shape Analysis: An Observational Retrospective Study. European Journal of Physical and Rehabilitation Medicine, 56, 191-196. https://doi.org/10.23736/S1973-9087.20.05993-6
[6]
Feingolg, J. (2005) Maladies multifactorielles: Un cauchemar pour le généticien. Medical Sciences, 21, 327-933.
[7]
Feingolg, J. (2005) Maladies multifactorielles: Un cauchemar pour le généticien. Medecine/Science, 21, 927-933. https://doi.org/10.1051/medsci/20052111927
[8]
Bowden, D.W., An, S.S., Palmer, N.D., Brown, W.M., Norris, J.M., Haffner, S.M., et al. (2010) Molecular Basis of a Linkage Peak: Exome Sequencing and Family-Based Analysis Identify a Rare Genetic Variant in the ADIPOQ Gene in the IRAS Family Study. Human Molecular Genetics, 19, 4112-4120. https://doi.org/10.1093/hmg/ddq327
[9]
Said-Nahal, R., Miceli-Richard, C. and Berthelot, J.-M. (2000) The Familial Forme of Spondylarthropathy: A Clinical Study of 115 Multiplex. Arthritis et Rheumatism, 43, 1356-1365. https://doi.org/10.1002/1529-0131(200006)43:6%3C1356::AID-ANR20%3E3.0.CO;2-Y
[10]
Breban, M., Said-Nahal, R., Hugot, J.P. and Miceli-Richard, C. (2003) Familial and Genetic Aspects of Spondyloarthropathy. Rheumatic Disease Clinics of North America, 29, 575-594. https://doi.org/10.1016/S0889-857X(03)00029-2
[11]
de Blecourt, J.J., et al. (1961) Facteurs héréditaires dans la polyarthrite rhumatoïde et spondylarthrite ankylosante. Annals of the Rheumatic Diseases, 20, Article No. 215.
[12]
Mijiyawa, M. (1993) Pathologies rhumatismales en Afrique noire. Revue du Rhumatisme, 60, 451-457.
[13]
Hassouni, N., Maetzel, A., Dougados, M. and Amor, B. (1993) Comparaison des malades examinés pour spondylarthropathies en France et au Maroc. Revue du Rhumatisme, 60, 420-425.
[14]
Diallo, S., Dieye, A., Siby, T., Niang, E.H., Ndongo, S., Diop, T.M. and Kane, B. (2007) Formes familiales des spondylarthropathies (SpA). Etude de 50 familles multiplex au Sénégal. Revue du Rhumatisme, 74, 1039-1208. https://doi.org/10.1016/j.rhum.2007.10.338
[15]
Diaw, C.A.B. (2015) Formes familiales de spondylarthrite ankylosante: étude préliminaire de 17 familles multiplex sénégalaises.
[16]
Barry, A., Kamissoko, A.B., Condé, K., Touré, M. and Camara, G. (2022) Formes familiales des spoldylarthrite ankylosante au servise de rhumatologie de l’hopital national Ignace Deen de Conakry. 1erCongrès de la Société Africaine de Rhumatologie, Ouagadougou, 16-18 Mars 2022, 28.
[17]
Diallo, S., Mbengue, M.M., Diouf, M.L., Kane, B., Mbaye, P.S. and Sakho, Y. (2001) Les spondylarthropathies chez les noirs africains du Sénégal. Etude de 130 observations. Revue du rhumatisme, 68, Article 1081.
[18]
Diallo, S., Ndiaye, D., Mbaye, P.S., Thiam, A. and Diop, T.M. (2001) L’allèle HLA B-27 et les sous types HLA B-27 dans les spondyarthropaties de noir africain du Sénégal. Revue du Rhumatisme, 68, 1081.
[19]
Carter, K.W., et al. (2007) Analyse combinée de trois analyses de liaison du génome entier pour la spondylarthrite ankylosante. Rheumatology, 46, 763-771.
[20]
Chou, C.T., et al. (2005) Study of Undifferentiated Spondyloarthropathy among First-Degree Relatives of Ankylosing Spondylitis Probands. Rheumatology, 44, 662-665. https://doi.org/10.1093/rheumatology/keh577
[21]
Sieper, J., Rudwaleit, M., Asim Khan, M. and Braun, J. (2006) Concepts and Epidemiology of Spondyloarthritis. Best Practice & Research Clinical Rheumatology, 20, 401-417. https://doi.org/10.1016/j.berh.2006.02.001
[22]
Vasseur, F. (2010-2011) Les maladies génétiques complexes.
[23]
Gran, J.T. and Husby, G. (1990) Ankylosing Spondylitis in Women. Seminars in Arthritis and Rheumatism, 19, 303-312. https://doi.org/10.1016/0049-0172(90)90053-I
[24]
Berthelot, J.M., et al. (2009) Par quels signes cliniques s’assurer au mieux qu’une douleur est bien d’origine sacro-iliaque (sensu lato)? Revue du Rhumatisme, 76, 741-749. https://doi.org/10.1016/j.rhum.2009.01.010
[25]
Claudepierre, P. and Voisin, M.-C. (2005) Les enthèses: Histologie, anatomie, pathologie et physiopathologie. Revue de rhumatisme, 72, 32-37. https://doi.org/10.1016/j.rhum.2004.02.008
[26]
Haglund, E., Bremander, A.B., et al. (2011) Prevalence of Spondyloarthritis and Its Subtypes in Southern Sweden. Annals of the Rheumatic Diseases, 70, 943-948. https://doi.org/10.1136/ard.2010.141598
[27]
Carbone, L.D., et al. (1992) Ankylosing Spondylitis in Rochester Minnesota, 1935-1989. Is the Epidemiology Changing? Arthritis & Rheumatology, 35, 1476-1482. https://doi.org/10.1002/art.1780351211
[28]
Masi, A.T. and Wilkins, W.R. (1993) Does Male/Female Sex-Ratio in Ankylosing Spondylitis Change with Age? The Journal of Rheumatology, 23, 947-948.