Article Text

SAT0123 Inheritance in Rheumatic Diseases (Rheumatoid Arthritis) and in Vitro Fertilization
  1. M. Panchovska1,
  2. F. Martinova2,
  3. N. Nikolov3,
  4. D. Stoychev1
  1. 1Department of Internal Medicine Propedeutics, Medical University, Plovdiv
  2. 2Hemotransfusion and Immunogenetics, MHATEM “Pirogov”, Sofia
  3. 3Cardiology and Rheumatology, UMHAT “Dr. Georgi Stranski”, Pleven, Bulgaria


Background In 1989 Gleicher and co-authors describe for the first time the so called reproductive autoimmune failure syndrome (RAFS) in women with infertility, endometriosis and high levels of autoantibodies. The complex interrelations between autoimmune diseases and reproductive processes are still investigated. In the context of assisted reproductive technologies there is a discussion about the induction of autoimmune disorders in relation with the hormonal therapy and the ovarian hyperstimulation, especially in the presence of genetic predisposition.

Methods Case Report: A 30-year-old woman was operated in relation with Polycystic Ovary Syndrome (Stein–Leventhal syndrome). Subsequently due to impossibility for conception, 10 unsuccessful attempts of intrauterine insemination were conducted. In 2009 in accordance with the respective protocol an attempt for in vitro fertilization was made, again unsuccessful. In the progress of the assisted reproduction, hormonal preparations were applied. The patient developed arthralgias of the small joints of the hands and began self-treatment with non-steroid anti-inflammatory drugs. The mother of the patient has rheumatoid polyarthritis associated with Sjögren and Raynaud syndromes.

Before the commencement of a new reproductive cycle, the young woman was immunologically analized. The presence of anti-nuclear antibodies (ANA-dsDNA) was discovered. The results of the other immunological tests were in the reference ranges.

After the discontinuation of the hormonal drugs, the articular manifestations faded away and the immunological indicators returned to normal.

The results of the immunogenotyping of the patient and her mother (using DNA-PCR-SSP) revealed carriage of HLA-A*01, B*08, Cw*07, DRB1*03, DQB1*02 haplotype in both.

In 2013 after a new attempt for in vitro fertilization and hormonal therapy, the patient developed symmetrical arthritis of the small joints of the hands, positive anti-CCP antibodies and rentgenological erosive changes of the affected joints. (Registered after a 10 month self-treatment with non-steroid anti-inflammatory and analgesic drugs.)

Conclusions Discussion: The presented case demonstrates a strong predisposition towards autoimmune diseases, associated with the carriage of the pointed out haplotype: HLA-A*01, B*08, Cw*07, DRB1*03, DQB1*02. In the case of the mother there are clinical manifestations of autoimmune rheumatic diseases – rheumatoid arthritis, Sjögren and Raynaud syndromes. Meanwhile in the young woman the autoimmune disease is initially disguised by the presence of ANA and infertility. During a subsequent attempt for in vitro fertilization and hormonal therapy, the patient develops seropositive rheumatoid arthritis.

Disclosure of Interest None declared

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