Anonymous User
Login / Registration

Gastroenterologie
a hepatologie

Gastroenterology and Hepatology

Gastroent Hepatol 2018; 72(2): 152–157. doi:10.14735/amgh2018csgh.info04.

Gastrointestinal symptomatology of familial Mediterranean fever – is this a problem also in Central Europe?

Zuzana Havlíčeková Orcid.org  1, Miloš Jeseňák Orcid.org  2, Nadežda Mišovicová3, Jana Kršiaková3, Ľubica Jakušová4, Peter Bánovčin Orcid.org  5

+ Affiliation

Summary

Human autoinflammatory diseases are a group of rare, genetically-determined diseases characterized by hyperactivation of innateimmune mechanisms in the absence of infectious or autoimmune disease. Familial Mediterranean fever is the most common monogenic autoinflammatory disease, especially among ethnic groups living in the Mediterranean region. The occurrence in other ethnic groups is relatively rare, but due to the migration of populations from Mediterranean regions, it also occurs in Central Europe. In addition to fever, abdominal pain is the most common clinical symptom. The authors present the case reports of four pediatric patients with gastrointestinal symptomatology treated at the Centre for Diagnosis and Treatment of Primary Immunodeficiency at Martin University Hospital, among whom only one had an, ancestor in the Mediterranean region.

Keywords

abdominal pain, children, familial Mediterranean fever, periodic fever

To read this article in full, please register for free on this website.

Benefits for subscribers

Benefits for logged users

Literature

1. Cush JJ. Autoinflammatory syndromes. Dermatol Clin 2013; 31 (3): 471–480. doi: 10.1016/j.det.2013.05.001.
2. Nursal AF, Tekcan A, Kaya SU et al. Mutational spectrum of the MEFV gene in AA amyloidosis associated with familial Mediterranean fever. Iran J Kidney Dis 2016; 10 (3): 107–112.
3. Ozturk C, Halicioglu O, Coker I et al. Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey. Clin Rheumatol 2012; 31 (3): 493–501. doi: 10.1007/s10067-011-1876-1.
4. Marek-Yagel D, Berkun Y, Padeh S et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum 2009; 60 (6): 1862–1866. doi: 10.1002/art.24570.
5. Fonnesu C, Cerquaglia C, Giovinale G et al. Familial Mediterranean fever: a review for clinical management. Joint Bone Spine 2009; 76 (3): 227–233. doi: 10.1016/j.jbspin.2008.08.004.
6. Kisacik B, Yildirim B, Tasliyurt T et al. Increased frequency of familial Mediterranean fever in northern Turkey: a population-based study. Rheumatol Int 2009; 29 (11): 1307–1309. doi: 10.1007/s00296-009-0849-z.
7. Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum 2009; 61 (10): 1447–1453. doi: 10.1002/art.24458.
8. Toplak N, Dolezalovà P, Constantin T et al.  Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J 2010; 8: 29. doi: 10.1186/1546-0096-8-29.
9. Ozkurede VU, Franchi L. Immunology in clinic  review series; focus on autoinflammatory dis-eases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol 2012; 167 (3): 382–390. doi: 10.1111/j.1365-2249.2011.04535.x.
10. Shinar Y, Obici L, Aksentijevich I et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71 (10): 1599–1605. doi: 10.1136/annrheumdis-2011-201271.
11. Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol 2017; 36 (8): 1707–1713. doi: 10.1007/s10067-017-3715-5.
12. Lidar M, Kedem R, Mor A et al. Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol 2005; 32 (5):  859–862.
13. Vogel Y, Büchner NJ, Haverkamp T et al.  Familial Mediterranean fever. Rare manifestation without fever and with inconspicuous family case history. Dtsch Med Wochenschr 2008; 133 (31–32): 1621–1624. doi: 10.1055/s-0028-1082777.
14. Kees S, Langevitz P, Zemer D et al. Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF). QJM 1997; 90 (10): 643–647.
15. Capron J, Grateau G, Steichen O. Is recurrent aseptic meningitis a manifestation of familial Mediterranean fever? A systematic review. Clin Exp Rheumatol 2013; 31 (3 Suppl 7): 127–132.
16. Lidar M, Yaqubov M, Zaks N et al. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol 2006; 33 (6): 1089–1109.
17. Lachmann HJ, Sengül B, Yavuzşen TU et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45 (6): 746–750. doi: 10.1093/rheumatology/kei279.
18. Livneh A, Langevitz P, Shinar Y et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 1999; 6 (1): 1–6.
19. Rigante D, Lopalco G, Tarantino et al. Non-canonical manifestations of familial Mediterranean fever: a changing paradigm. Clin Rheumatol 2015; 34 (9): 1503–1511. doi: 10.1007/s10067-015-2916-z.
20. Cattan D, Notarnicola C, Molinari N et al. Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 2000; 355 (9201): 378–379.
21. Fidder HH, Chowers Y, Lidar M et al. Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 2002; 81 (6):  411–416.
22. Livneh A, Langevitz P, Zemer D et al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum 1996; 26 (3): 612–627.
23. Onen F. Familial Mediterranean fever. Rheumatol Int 2006; 26 (6): 489–496. doi: 10.1007/ s00296-005-0074-3.
24. Tunca M, Akar S, Onen F et al. Familial Mediterranean fever (FMF) in Turkey: results of a of a nationwide multicenter study. Medicine (Baltimore) 2005; 84 (1): 1–11.
25. Sohar E, Gafni J, Pras M et al. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43 (2): 227–253.
26. Kaşifoğlu T, Cansu DU, Korkmaz C. Frequency of abdominal surgery in patients with familial Mediterranean fever. Intern Med 2009; 48 (7): 523–526.
27. Berkun Y, Ben-Chetrit E, Klar A. Peritoneal adhesions and intestinal obstructions in patients with familial Mediterranean fever – are they more frequent? Semin Arthritis Rheum 2007; 36 (5): 316–321. doi: 10.1016/j.semarthrit.2006.11.002.
28. Mor A, Gal R, Livneh A. Abdominal and digestive system associations of familial Mediterranean fever. Am J Gastroenterol 2003; 98 (12): 2594– 2604. doi: 10.1111/j.1572-0241.2003.08784.x.
29. Brik R, Litmanovitz D, Berkowitz D et al. Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. J Pediatr 2001; 138 (5): 759–762. doi: 10.1067/mpd.2001.113357.
30. Gurkan OE, Dalgic B. Gastrointestinalmucosal involvement without amyloidosis in  children with familial Mediterranean fever. J Pediatr Gastroenterol Nutr 2013; 57 (3): 319–323. doi: 10.1097/MPG.0b013e318295fc65.
31. Aharoni D, Hiller N, Hadas-Halpern I. Familial Mediterranean fever: abdominal imaging findings in 139 patients and review of the literature. Abdom Imaging 2000; 25 (3): 297–300.
32. Ishak GE, Khoury NJ, Birjawi GA et al. Imaging findings of familial Mediterranean fever. Clin Imaging 2006; 30 (3): 153–159. doi: 10.1016/j.clinimag.2005.07.002.
33. Tweezer-Zaks N, Doron-Libner A, Weiss P et al. Familial Mediterranean fever and cryptogenic cirrhosis. Medicine (Baltimore) 2007; 86 (6): 355–362. doi: 10.1097/MD.0b013e31815be056.
34. Rimar D, Rosner I, Rozenbaum M et al.  Familial Mediterranean fever: an association with non-alcoholic fatty liver disease. Clin Rheumatol 2011; 30 (7): 987–991. doi: 10.1007/ s10067-011-1718-1.
35. Beşer OF, Kasapçopur O, Cokuğraş FC et al. Association of inflammatorybowel disease with familial Mediterranean fever in Turkish children. J Pediatr Gastroenterol Nutr 2013; 56 (5): 498–502. doi: 10.1097/MPG.0b013e31827dd763.
36. Uslu N, Yüce A, Demir H et al. The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children. Dig Dis Sci 2010; 55 (12): 3488–3494. doi: 10.1007/s10620-010-1178-5.
37. Livneh A, Langevitz P, Zemer D et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40 (10): 1879–1885.
38. Demirkaya E, Saglam C, Turker T et al. Performance of different diagnostic criteria for familial Mediterranean fever in children with periodic fevers: results from a multicenter international registry. J Rheumatol 2006; 43 (1): 154–160. doi: 10.3899/jrheum.141249.
39. Federici S, Sormani MP, Ozen S el. al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015; 74 (5): 799–805. doi: 10.1136/annrheumdis-2014-206580.
40. Ben-Chetrit E, Ozdogan H. Non-response to colchicine in FMF – definition, causes and suggested solutions. Clin Exp Rheumatol 2008; 26 (4 Suppl 50): S49–S51.

Credited self-teaching test