LAUSR

Eye symptoms: myopia, prolapse of the upper eyelid, epiblepharon in the upper eyelid are small diagnostic criteria for joint hypermobility syndrome (JHS).There are few publications in the literature on the relationship between JHS and primary open-angle glaucoma (POAG).It is known that in the development of JHS, the distribution of collagen of types I and III with the predominance of collagen of type III is important, the latter is encoded by the COL3A1 gene. When using POAG in the connective tissue of the middle and deep layers of the sclera by the immunohistochemical method, intense focal accumulation of type I and III collagen was previously revealed, and in the layers of the sclera’s own substance, type III collagen, unusual for it.To study articular and extraarticular clinical manifestations, instrumental, laboratory signs, as well as to conduct molecular genetic studies on the carriage of the Col3Al gene in patients with a diagnosis of POAG and compare them.Nine consecutive patients with an established diagnosis of POAG (burdened heredity by glaucoma) with arthralgia were sent for consultation to the V.A. Nasonova Research Institute of Rheumatology from the Moscow Helmholtz Research Institute of Eye Diseases. All patients are women, the average age is 56.7 ± 10.5 years, the average Beighton score - 4.86 ± 1.7, the mean value of the Westergren ESR - 11,8 ± 5.1 mm/h, CRPhs- 4.9 ± 9.4 mg / 1, all of them were seronegative for rheumatoid factor (RE) and ACCP. All patients responded to the JHS diagnosis according to the 1998 Brighton diagnostic criteria. DNA was isolated from the leukocyte fraction of venous blood using the Wizard DNA Purification Kit (Promega) according to the manufacturer’s instructions. The study of gene polymorphisms was performed by the method of minisequencing with subsequent time-of-flight mass spectrometry of a sample on a matrix (MALDI-TOF) in the clinical diagnostic laboratory of NPF L1TEX LLC using a standard protocol (Wise C.A., 2003).9 patients had arthralgia, 8 - vertebralgia, 3 - myalgia. 2 had a history of wrist joint dislocation, 7 had flat feet (3 of them had Hallucis valgus), 5 had spondylosis and spondylolisthesis (protrusions and disc herniation according to MRI of the spine), and 4 had excessive skin and / or striate atrophy of skin. Extraarticular manifestations: mitral valve prolapse was detected in 3 patients (in 1 of them + atrial septal defect) with ultrasound of the heart, in 3 - descent of the internal organs (nephroptosis, uterine prolapse), in 4 - pronounced varicose veins of the lower extremities. All patients had a carrier state of the A allele identified by marker C.2092G> A and C allele c.2244T> C of the COL3A1 gene, and a family history of glaucoma. Identification of compliance with JHS diagnostic criteria and the presence of genetic factors (COL3A1 gene) in patients with POAG is of great scientific importance, since it confirms not only clinical associations, but also the genetic proximity of these two conditions. It is also difficult to overestimate the practical value, since patients with POAG need the help of a doctor in the treatment of their articular and other non-ophthalmological manifestations of JHS, and establishing a diagnosis of JHS will require a more thorough examination of the eyes in terms of detecting POAG, its treatment or prevention.The association of JHS, POAG and COL3A1 gene necessitates further study of the association of JHS and POAG: POAG as a clinical manifestation of JHS, on the one hand, and the role of JHS as a possible risk factor for the development of POAG - on the other hand.Table 1.Demographic, clinical and laboratory characteristics of patients with Schnitzler’s syndromePtsThe age (y)The age at onset (y)Diagnosis delay (y)ESR (<15 mm/h)СRP (<6g/l)M-gradient (g/l)AnakinraCanakinumabThe treatment duration (y)151404311077,1015253282240295,7000336293140447,80134585331001927,6110,556966249965,1110,5Abbreviations: Pts – patients, y- years, ESR – erythrocyte sedimentation rate, CRP – C-reactive proteinNone declared