Периодическая болезнь (ПБ), или семейная средиземноморская лихорадка, – аутосомно-рецессивное заболевание, распространенное в популяциях средиземноморского происхождения, в частности среди армян, евреев-сефардов, арабов, турков. Существует множество клинических наблюдений о сочетании ПБ как типичного представителя аутовоспалительных заболеваний и системных заболеваний соединительной ткани как классических аутоиммунных заболеваний. В этом плане большой интерес представляют серонегативные спондилоартриты (СНСА), так как сакроилеит, являющийся патогномоничным признаком данного заболевания, довольно часто проявляется в качестве составной части суставного синдрома при ПБ. Целью данного исследования явилось изучение особенностей течения ПБ и СНСА при их сочетании. Изучены 126 больных с ПБ и СНСА, а также их сочетанием. Согласно полученным результатам сочетание ПБ-СНСА имеет относительно мягкое течение по сравнению и с СНСА, и с ПБ в отдельности. Сравнительная клинико-инструментальная характеристика ПБ-ассоциированных заболеваний выявила, что при сочетании ПБ-СНСА наблюдается менее тяжелое течение как в отношении симптомов ПБ, так и симптомов СНСА.
Familial Mediterranean fever (FMF) is an autosomal recessive disease distributed among populations of Mediterranean origin – Armenians, Sephardi Jews, Arabs, Turks. There are numerous clinical observations regarding combination of FMF, as a classical representative of autoinflammatory diseases, with systemic diseases of connective tissue. Seronegative spondyloarthritis (SpA) are the most interesting disorders from this point of view, as far as sacroiliitis – an essential feature of SpA, may also present as a part of joint syndrome in FMF. The main objective of this clinical study was the investigation of the peculiarities of courses of FMF and SpA in case of their coexistence. We studied 126 patients with FMF, SpA and coexistence of both. According to results, patients with the overlap of FMF with SpA had relatively milder course of disease in comparison with each disease separately. Comparative clinical and instrumental characteristics of FMF-associated disorders had shown that in FMF-SpA overlap the symptoms of both diseases are less severe.
1. Nir-Paz R, Ben-Chetrit E, Pikarsky T, et al. Unusual presentation of familial Mediterranean fever: role of genetic diagnosis. Ann Rheum Dis. 2000;59:836-8. DOI:10.1136/ard.59.10.836
2. Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr. 2003;162:449-54. DOI:10.1007/s00431-003-1223-x
3. Lachmann H, Sengul B, Yavuzsen T, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45:746-50. DOI:10.1093/rheumatology/kei279
4. Tunca M, Kirkali G, Soyturk M, et al. Acute phase response and evolution of familial Mediterranean fever. Lancet. 1999;353:1415. DOI:10.1016/S0140-6736(99)00990-3
5. Oktem S, Yavuszen B, Sengui B, et al. Continuity of cytokine activation in patients with familial Mediterranean fever. Clin Rheumatol. 2004;23:333-7. DOI:10.1007/s10067-004-0925-4
6. McDermott M, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133-44. DOI:10.1016/s0092-8674(00)80721-7
7. Aksu K, Keser G. Coexistence of vasculitides with Familial Mediterranean fever. Rheumat Int. 2011;31(10):1263-74. DOI:10.1007/s00296-011-1840-z
8. Yildiz G, Kayatas M, Uygun Y, et al. Coexistence of systemic lupus erythematosus and familial Mediterranean fever. Intern Med. 2010;49:767-9. DOI:10.2169/internalmedicine.49.3102
9. Schwartz T, Langevitz P, Zemer D, et al. Behcet’s disease in Familial Mediterranean Fever: Characterization of the association between the two diseases. Semin Arthritis Rheum. 2000;29:286-95. DOI:10.1016/s0049-0172(00)80015-3
10. Touitou I, Magne X, Molinari N, et al. MEFV mutations in Behcet’s disease. Hum Mutat. 2000;16:271-2. DOI:10.1002/1098-1004(200009)16:3
11. Georgin-Lavialle S, Stojanovic K, Bachmeye C, et al. Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra. Rheumatology.
2017;56:167-9. DOI:10.1093/rheumatology/kew290
12. Ozgocmen S, Ozcakar L, Ardicoglu O, et al. Familial Mediterranean fever responds well to infliximab: single case experience. Clin Rheumatol. 2006;25:83-7.
DOI:10.1007/s10067-005-1122-9
13. Sarikaya S, Ozdolap S, Marasli E. Spondylitis and arthritis in Familial Mediterranean fever. Turk J Rheumatol. 2012;27(4):241-7. DOI:10.5606/tjr.2012.043
14. Cosan F, Ustek D, Oku B. Association of familial Mediterranean fever-related gene variations with ankylosing spondylitis. Arthritis Rheum. 2010;62(11):3232-6. DOI:0.1002/art.27683
15. Cinar M, Dinc A, Simsek I, et al. The rate and signifficanse of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study. Rheumatol Int. 2008;29:37-42. DOI:10.1007/s00296-008-0637-1
16. Ozdolap S, Sarikaya S, Aktunc E. Familial Mediterranean fever assoiated with ankylozing spondylitis. Rheumatism. 2006;21:31-3. DOI:10.1007/s00296-005-0080-5
17. Kasifoglu T, Calisir C, Cansu D, et al. The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis. Clin Rheumatol. 2009;28:41-6. DOI:10.1007/s10067-008-0980-3
18. Demirag M, Ozturk M, Goker M, et al. Intramuscular gold for the treatment of seronegative spondyloarthropathy associated with familial Mediterranean fever. Rheumatol Int. 2008;29:77-9. DOI:10.1007/s00296-008-0631-7
19. Garrett S, Jenkinson T, Kennedy L, et al. A new approach to defining disease status in ankylosing spondylitis: the Bath Ankylosing Spondylitis Disease Activity Index. J Rheumatol. 1994;21(12):2286-91.
20. Calin A, Garrett S, Whitelock H, et al. A new approach to defining functional ability in ankylosing spondylitis: the development of the Bath Ankylosing Spondylitis Functional Index. J Rheumatol. 1994;21(12):2281-5.
21. Doria Z, Zen M, Bettio S, et al. Autoinflammation and autoimmunity: bridging the divide. Autoimmune Rev. 2012;12(1):22-30. DOI:10.1016/j.autrev.2012.07.018
22. Langevitz P, Livneh A, Zemer D, et al. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum. 1997;27:67-72. DOI:10.1016/s0049-0172(97)80007-8
23. Balaban B, Yasar E, Ozgul A, et al. Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis. Rheumatol Int.
2005;25:641-4. DOI:10.1007/s00296-004-0578-2
24. Borman P, Gokoglu F, Tasbas O, et al. Familial Mediterranean fever-related spondyloarthropathy. Singapore Med J. 2009;50(3):116-9.
25. Incel N, Saracoglu M, Erdem H. Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int. 2003;23:41-3. DOI:10.1007/s00296-002-0239-2
26. Altindag O, Karakoc M, Soran N, et al. Ankylosing spondylitis together with familial Mediterranean fever: A concomitant disease or a feature of FMF? Rheumatizm. 2007;22:110-3.
27. Sari I, Simsek I, Guvenc I, et al. Osteopoikilosis coexistent with ankylosing spondylitis and familial Mediterranean fever. Rheumatol Int. 2009;29:321-3.
DOI:10.1007/s00296-008-0660-2
28. Duman I, Balaban B, Tugcu I, et al. FMF unusually coexisted in an ankylosing spondylitis patient. MEFV mutation has any role? Rheumatol Int. 2007;27:689-90.
DOI:10.1007/s00296-006-0275-4
29. Keles I, Aydin G, Tosun A, et al. Familial Mediterranean fever and ankylosing spondylitis in a patient with juvenile idiopathic arthritis: a case report and review of the literature. Rheumatol Int. 2006;26:846-51. DOI:10.1007/s00296-005-0080-5
30. Akkoc N, Sari I, Akar S, et al. Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial Mediterranean fever. Arthritis Rheum. 2010;62(10):3059-63. DOI:10.1002/art.27598
________________________________________________
1. Nir-Paz R, Ben-Chetrit E, Pikarsky T, et al. Unusual presentation of familial Mediterranean fever: role of genetic diagnosis. Ann Rheum Dis. 2000;59:836-8. DOI:10.1136/ard.59.10.836
2. Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr. 2003;162:449-54. DOI:10.1007/s00431-003-1223-x
3. Lachmann H, Sengul B, Yavuzsen T, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45:746-50. DOI:10.1093/rheumatology/kei279
4. Tunca M, Kirkali G, Soyturk M, et al. Acute phase response and evolution of familial Mediterranean fever. Lancet. 1999;353:1415. DOI:10.1016/S0140-6736(99)00990-3
5. Oktem S, Yavuszen B, Sengui B, et al. Continuity of cytokine activation in patients with familial Mediterranean fever. Clin Rheumatol. 2004;23:333-7. DOI:10.1007/s10067-004-0925-4
6. McDermott M, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133-44. DOI:10.1016/s0092-8674(00)80721-7
7. Aksu K, Keser G. Coexistence of vasculitides with Familial Mediterranean fever. Rheumat Int. 2011;31(10):1263-74. DOI:10.1007/s00296-011-1840-z
8. Yildiz G, Kayatas M, Uygun Y, et al. Coexistence of systemic lupus erythematosus and familial Mediterranean fever. Intern Med. 2010;49:767-9. DOI:10.2169/internalmedicine.49.3102
9. Schwartz T, Langevitz P, Zemer D, et al. Behcet’s disease in Familial Mediterranean Fever: Characterization of the association between the two diseases. Semin Arthritis Rheum. 2000;29:286-95. DOI:10.1016/s0049-0172(00)80015-3
10. Touitou I, Magne X, Molinari N, et al. MEFV mutations in Behcet’s disease. Hum Mutat. 2000;16:271-2. DOI:10.1002/1098-1004(200009)16:3
11. Georgin-Lavialle S, Stojanovic K, Bachmeye C, et al. Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra. Rheumatology.
2017;56:167-9. DOI:10.1093/rheumatology/kew290
12. Ozgocmen S, Ozcakar L, Ardicoglu O, et al. Familial Mediterranean fever responds well to infliximab: single case experience. Clin Rheumatol. 2006;25:83-7.
DOI:10.1007/s10067-005-1122-9
13. Sarikaya S, Ozdolap S, Marasli E. Spondylitis and arthritis in Familial Mediterranean fever. Turk J Rheumatol. 2012;27(4):241-7. DOI:10.5606/tjr.2012.043
14. Cosan F, Ustek D, Oku B. Association of familial Mediterranean fever-related gene variations with ankylosing spondylitis. Arthritis Rheum. 2010;62(11):3232-6. DOI:0.1002/art.27683
15. Cinar M, Dinc A, Simsek I, et al. The rate and signifficanse of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study. Rheumatol Int. 2008;29:37-42. DOI:10.1007/s00296-008-0637-1
16. Ozdolap S, Sarikaya S, Aktunc E. Familial Mediterranean fever assoiated with ankylozing spondylitis. Rheumatism. 2006;21:31-3. DOI:10.1007/s00296-005-0080-5
17. Kasifoglu T, Calisir C, Cansu D, et al. The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis. Clin Rheumatol. 2009;28:41-6. DOI:10.1007/s10067-008-0980-3
18. Demirag M, Ozturk M, Goker M, et al. Intramuscular gold for the treatment of seronegative spondyloarthropathy associated with familial Mediterranean fever. Rheumatol Int. 2008;29:77-9. DOI:10.1007/s00296-008-0631-7
19. Garrett S, Jenkinson T, Kennedy L, et al. A new approach to defining disease status in ankylosing spondylitis: the Bath Ankylosing Spondylitis Disease Activity Index. J Rheumatol. 1994;21(12):2286-91.
20. Calin A, Garrett S, Whitelock H, et al. A new approach to defining functional ability in ankylosing spondylitis: the development of the Bath Ankylosing Spondylitis Functional Index. J Rheumatol. 1994;21(12):2281-5.
21. Doria Z, Zen M, Bettio S, et al. Autoinflammation and autoimmunity: bridging the divide. Autoimmune Rev. 2012;12(1):22-30. DOI:10.1016/j.autrev.2012.07.018
22. Langevitz P, Livneh A, Zemer D, et al. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum. 1997;27:67-72. DOI:10.1016/s0049-0172(97)80007-8
23. Balaban B, Yasar E, Ozgul A, et al. Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis. Rheumatol Int.
2005;25:641-4. DOI:10.1007/s00296-004-0578-2
24. Borman P, Gokoglu F, Tasbas O, et al. Familial Mediterranean fever-related spondyloarthropathy. Singapore Med J. 2009;50(3):116-9.
25. Incel N, Saracoglu M, Erdem H. Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int. 2003;23:41-3. DOI:10.1007/s00296-002-0239-2
26. Altindag O, Karakoc M, Soran N, et al. Ankylosing spondylitis together with familial Mediterranean fever: A concomitant disease or a feature of FMF? Rheumatizm. 2007;22:110-3.
27. Sari I, Simsek I, Guvenc I, et al. Osteopoikilosis coexistent with ankylosing spondylitis and familial Mediterranean fever. Rheumatol Int. 2009;29:321-3.
DOI:10.1007/s00296-008-0660-2
28. Duman I, Balaban B, Tugcu I, et al. FMF unusually coexisted in an ankylosing spondylitis patient. MEFV mutation has any role? Rheumatol Int. 2007;27:689-90.
DOI:10.1007/s00296-006-0275-4
29. Keles I, Aydin G, Tosun A, et al. Familial Mediterranean fever and ankylosing spondylitis in a patient with juvenile idiopathic arthritis: a case report and review of the literature. Rheumatol Int. 2006;26:846-51. DOI:10.1007/s00296-005-0080-5
30. Akkoc N, Sari I, Akar S, et al. Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial Mediterranean fever. Arthritis Rheum. 2010;62(10):3059-63. DOI:10.1002/art.27598
1Ереванский государственный медицинский университет им. Мхитара Гераци, Ереван, Армения; 2Университетская больница «Гераци», Ереван, Армения
*kginosyan@gmail.com
________________________________________________
Knarik V. Ginosyan*1,2, Valentina S. Vardanyan1, Nikolai G. Eghiazaryan1, Zinaida T. Jndoyan1, Irina S. Ghazinyan1, Aren Yu. Bablumyan1,2
1Mkhitar Heratsi Yerevan State Medical University, Yerevan, Armenia; 2Geratsi University Clinic, Yerevan, Armenia
*kginosyan@gmail.com