Skip to main content
Top
Published in: Pediatric Nephrology 9/2003

01-09-2003 | Review

Familial Mediterranean fever

Author: Aysin Bakkaloglu

Published in: Pediatric Nephrology | Issue 9/2003

Login to get access

Abstract

Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterized by recurrent attacks of polyserositis. Fever, abdominal pain, chest pain, and arthritis/arthralgia are the leading symptoms. It is an autosomal recessive disorder, which primarily affects Jewish, Armenian, Turkish, and Arab populations. The FMF gene (MEFV) has recently been cloned to chromosome 16p, which encodes pyrin. Genotype-phenotype correlation is not well established. Amyloidosis is the most severe complication of FMF. The SAA1-α/α genotype was associated with an increased risk of amyloidosis. Colchicine treatment not only decreases the frequency and severity of attacks, but also prevents amyloidosis. Certain vasculitides, namely Henoch-Schonlein purpura and polyarteritis nodosa, are more frequent among FMF patients.
Literature
1.
go back to reference Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of literature. Am J Med 43:227–253PubMed Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of literature. Am J Med 43:227–253PubMed
2.
go back to reference Siegal S (1945) Benign paroxysmal peritonitis. Ann Intern Med 23:1–21 Siegal S (1945) Benign paroxysmal peritonitis. Ann Intern Med 23:1–21
3.
go back to reference Heller H, Sohar E, Sherf L (1958) Familial Mediterranean fever. Arch Intern Med 102:50–71 Heller H, Sohar E, Sherf L (1958) Familial Mediterranean fever. Arch Intern Med 102:50–71
4.
go back to reference Schwartz J (1960) Periodic peritonitis, onset simultaneously with menstruation. Ann Intern Med 53:407–411 Schwartz J (1960) Periodic peritonitis, onset simultaneously with menstruation. Ann Intern Med 53:407–411
5.
go back to reference Ehrenfeld EN, Eliakim M, Rachmilewitz M (1961) Recurrent polyserositis (familial Mediterranean fever: periodic disease). A report of fifty-five cases. Am J Med 31:107–123 Ehrenfeld EN, Eliakim M, Rachmilewitz M (1961) Recurrent polyserositis (familial Mediterranean fever: periodic disease). A report of fifty-five cases. Am J Med 31:107–123
6.
go back to reference Artunkal S, Seyahi V (1955) Five cases of periodic disease. Turk Tıb Cem Mec 21:282 Artunkal S, Seyahi V (1955) Five cases of periodic disease. Turk Tıb Cem Mec 21:282
7.
go back to reference Yarkin C, Bankman N (1957) La maladie periodique en Turquie. Presse Med 65:1633 Yarkin C, Bankman N (1957) La maladie periodique en Turquie. Presse Med 65:1633
8.
go back to reference Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 64:949–962PubMed Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 64:949–962PubMed
9.
go back to reference Lee WY, Tsai S, Kao JH, Lai MY (1993) Taiwanese patient with recurrent polyserositis: report of a case. J Formos Med Assoc 92:1013–1016PubMed Lee WY, Tsai S, Kao JH, Lai MY (1993) Taiwanese patient with recurrent polyserositis: report of a case. J Formos Med Assoc 92:1013–1016PubMed
10.
go back to reference Takahashi M, Ebe T, Kohara T, Inagaki M, Isonuma H, Hibiya I, Mori T, Watanabe K, Ikemoto H (1992) Periodic fever compatible with familial Mediterranean fever. Intern Med 31:893–898PubMed Takahashi M, Ebe T, Kohara T, Inagaki M, Isonuma H, Hibiya I, Mori T, Watanabe K, Ikemoto H (1992) Periodic fever compatible with familial Mediterranean fever. Intern Med 31:893–898PubMed
11.
go back to reference Daniels M, Shohat T, Brenner-Ullman A, Shohat M (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 55:311–314PubMed Daniels M, Shohat T, Brenner-Ullman A, Shohat M (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 55:311–314PubMed
12.
go back to reference Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, Tezcan S (1998) Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 25:2445–2449PubMed Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, Tezcan S (1998) Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 25:2445–2449PubMed
13.
go back to reference Torosyan L, Aksentijevich I, Sarkisian T (2000) A population based survey reveals an extremely high FMF carrier frequency in Armenia suggesting heterozygote advantage. Am J Hum Genet 67:404 (abstract 2275) Torosyan L, Aksentijevich I, Sarkisian T (2000) A population based survey reveals an extremely high FMF carrier frequency in Armenia suggesting heterozygote advantage. Am J Hum Genet 67:404 (abstract 2275)
14.
go back to reference Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M (2001) Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9:553–555CrossRefPubMed Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M (2001) Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9:553–555CrossRefPubMed
15.
go back to reference The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797–807PubMed The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797–807PubMed
16.
go back to reference The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25–31PubMed The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25–31PubMed
17.
go back to reference Henry J, Ribouchon MT, Offer C, Pontarotti P (1997) B30.2-like domain proteins: a growing family. Biochem Biophys Res Commun 235:162–165CrossRefPubMed Henry J, Ribouchon MT, Offer C, Pontarotti P (1997) B30.2-like domain proteins: a growing family. Biochem Biophys Res Commun 235:162–165CrossRefPubMed
18.
go back to reference Vernet C, Boretto J, Mattei MG, Takahashi M, Jack LJ, Mather IH, Rouquier S, Pontarotti P (1993) Evolutionary study of multigenic families mapping close to the human MHC class I region. J Mol Evol 37:600–612PubMed Vernet C, Boretto J, Mattei MG, Takahashi M, Jack LJ, Mather IH, Rouquier S, Pontarotti P (1993) Evolutionary study of multigenic families mapping close to the human MHC class I region. J Mol Evol 37:600–612PubMed
19.
go back to reference Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations and a survey of 100 American referrals to the National Institute of Health. Medicine (Baltimore) 77:268–297 Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations and a survey of 100 American referrals to the National Institute of Health. Medicine (Baltimore) 77:268–297
20.
go back to reference Kastner DL (1998) FMF: the genetics of inflammation. Hosp Prac 33:131–158 Kastner DL (1998) FMF: the genetics of inflammation. Hosp Prac 33:131–158
21.
go back to reference Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech HL, Kastner DL (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95:3223–3231PubMed Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech HL, Kastner DL (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95:3223–3231PubMed
22.
go back to reference Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, Kastner DL (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 98:851–859CrossRefPubMed Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, Kastner DL (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 98:851–859CrossRefPubMed
23.
go back to reference Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N (1999) Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 7:287–292PubMed Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N (1999) Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 7:287–292PubMed
24.
go back to reference Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, Pras E (1999) MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 6:1–6PubMed Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, Pras E (1999) MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 6:1–6PubMed
25.
go back to reference Ben-Chetrit E, Urieli-Shoval S, Calko S, Abeliovich D, Matzner Y (2002) Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 20 [Suppl 26]:S25–S29 Ben-Chetrit E, Urieli-Shoval S, Calko S, Abeliovich D, Matzner Y (2002) Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 20 [Suppl 26]:S25–S29
26.
go back to reference Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA (2002) Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum 31:371–376CrossRefPubMed Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA (2002) Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum 31:371–376CrossRefPubMed
27.
go back to reference Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R (1999) Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 103:e70PubMed Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R (1999) Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 103:e70PubMed
28.
go back to reference Cattan D, Dervichian M, Thomas M, Dode C, Touitou I (2001) MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever. Isr Med Assoc J 3:803–804PubMed Cattan D, Dervichian M, Thomas M, Dode C, Touitou I (2001) MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever. Isr Med Assoc J 3:803–804PubMed
29.
go back to reference Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R (2001) Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 9:634–637CrossRefPubMed Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R (2001) Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 9:634–637CrossRefPubMed
30.
go back to reference Yalcinkaya F, Cakar N, Misirlioglu M, Tumer N, Akar N, Tekin M, Tastan H, Kocak H, Ozkaya N, Elhan AH (2000) Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation independent amyloidosis. Rheumatology 39:67–72PubMed Yalcinkaya F, Cakar N, Misirlioglu M, Tumer N, Akar N, Tekin M, Tastan H, Kocak H, Ozkaya N, Elhan AH (2000) Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation independent amyloidosis. Rheumatology 39:67–72PubMed
31.
go back to reference Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N, Akcakus M, Tastan H, Matzner Y (2000) MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118–119CrossRef Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N, Akcakus M, Tastan H, Matzner Y (2000) MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118–119CrossRef
32.
go back to reference Touitou I (2001) The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 9:473–483CrossRefPubMed Touitou I (2001) The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 9:473–483CrossRefPubMed
33.
go back to reference Yalcinkaya F, Topaloglu R, Yilmaz E, Emre S, Erken E, on behalf of the Turkish FMF Study Group (2002) Distribution of MEFV mutations and phenotype genotype analysis in Turkish patients with FMF: a nationwide study (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S90 Yalcinkaya F, Topaloglu R, Yilmaz E, Emre S, Erken E, on behalf of the Turkish FMF Study Group (2002) Distribution of MEFV mutations and phenotype genotype analysis in Turkish patients with FMF: a nationwide study (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S90
34.
go back to reference Aksentijevich I, Kastner DL, and the International FMF Consortium (1997) Microsatellite haplotypes and MEFV mutations: exploring the genealogy of FMF. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the 1st International Conference on FMF, Jerusalem, 1997. Freund, Tel Aviv, pp 246–251 Aksentijevich I, Kastner DL, and the International FMF Consortium (1997) Microsatellite haplotypes and MEFV mutations: exploring the genealogy of FMF. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the 1st International Conference on FMF, Jerusalem, 1997. Freund, Tel Aviv, pp 246–251
35.
go back to reference Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885PubMed Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885PubMed
36.
go back to reference Tunca M, Akar S, SirinA, Onen F, Cobankara V, on behalf of the Turkish FMF Study Group (2002) The results of a nationwide, multicenter analysis of the clinical and genetic characteristics of the Turkish FMF patients (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S92 Tunca M, Akar S, SirinA, Onen F, Cobankara V, on behalf of the Turkish FMF Study Group (2002) The results of a nationwide, multicenter analysis of the clinical and genetic characteristics of the Turkish FMF patients (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S92
37.
go back to reference Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I (1998) Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever. Eur J Hum Genet 6:95–97PubMed Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I (1998) Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever. Eur J Hum Genet 6:95–97PubMed
38.
go back to reference Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S (1999) MEFV gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694 V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 65:88–97PubMed Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S (1999) MEFV gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694 V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 65:88–97PubMed
39.
go back to reference Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN (1998) Pyrin/marenostrin mutations in familial Mediterranean fever. Q J Med 91:603–606CrossRef Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN (1998) Pyrin/marenostrin mutations in familial Mediterranean fever. Q J Med 91:603–606CrossRef
40.
go back to reference Yalcınkaya F, Akar N, Misirlioglu M (1998) Familial Mediterranean fever-amyloidosis and the Val726Ala mutation. N Engl J Med 338:993–994CrossRefPubMed Yalcınkaya F, Akar N, Misirlioglu M (1998) Familial Mediterranean fever-amyloidosis and the Val726Ala mutation. N Engl J Med 338:993–994CrossRefPubMed
41.
go back to reference Saatci U, Yalcinkaya F, Oner A, Besbas N, Baskin E, on behalf of the Turkish FMF Study Group (2002) Renal involvement in Turkish patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S89 Saatci U, Yalcinkaya F, Oner A, Besbas N, Baskin E, on behalf of the Turkish FMF Study Group (2002) Renal involvement in Turkish patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S89
42.
go back to reference Balci B, Tinaztepe K, Yilmaz E, Gucer S, Ozen S, Topaloglu R, Besbas N, Ozguc M, Bakkaloglu A (2002) MEFV mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dial Transplant 17:1921–1923CrossRefPubMed Balci B, Tinaztepe K, Yilmaz E, Gucer S, Ozen S, Topaloglu R, Besbas N, Ozguc M, Bakkaloglu A (2002) MEFV mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dial Transplant 17:1921–1923CrossRefPubMed
43.
go back to reference Ozdemir AL, Sokmen C (1969) Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 51:311–316PubMed Ozdemir AL, Sokmen C (1969) Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 51:311–316PubMed
44.
go back to reference Saatci U, Ozen S, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, Arslan S (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156:619–623CrossRefPubMed Saatci U, Ozen S, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, Arslan S (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156:619–623CrossRefPubMed
45.
go back to reference Barakat MH, Karnik AM, Mejeed HW, El-Sobki NA, Fennech MM (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs. A study of 175 patients and review of the literature. Q J Med 837–847 Barakat MH, Karnik AM, Mejeed HW, El-Sobki NA, Fennech MM (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs. A study of 175 patients and review of the literature. Q J Med 837–847
46.
go back to reference Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, Rotter JI (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 34:168–172PubMed Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, Rotter JI (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 34:168–172PubMed
47.
go back to reference Aivasian AA, Savgoridniaia AM, Abramiam MK (1977) Immunogenesis of periodic disease Klin Med (Mosk) 55:41–97 Aivasian AA, Savgoridniaia AM, Abramiam MK (1977) Immunogenesis of periodic disease Klin Med (Mosk) 55:41–97
48.
go back to reference Benson MB, Cohen AS (1979) Serum amyloid A protein in amyloidosis, rheumatic and neoplastic diseases. Arthritis Rheum 22:36–42PubMed Benson MB, Cohen AS (1979) Serum amyloid A protein in amyloidosis, rheumatic and neoplastic diseases. Arthritis Rheum 22:36–42PubMed
49.
go back to reference Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Genevieve D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S (2000) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 67:1136–1143PubMed Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Genevieve D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S (2000) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 67:1136–1143PubMed
50.
go back to reference Bakkaloglu A, Duzova A, Balci B, Besbas N, Topaloglu R, Ozen S (2002) The effect of SAA1, SAA2 polymorphisms on renal amyloidosis and A-SAA levels in patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S80 Bakkaloglu A, Duzova A, Balci B, Besbas N, Topaloglu R, Ozen S (2002) The effect of SAA1, SAA2 polymorphisms on renal amyloidosis and A-SAA levels in patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S80
51.
go back to reference Tunca M, Kirkali G, Soytürk M, Akar S, Pepys MB, Hawkins PN (1999) Acute phase response and evolution of familial Mediterranean fever. Lancet 353:1415CrossRef Tunca M, Kirkali G, Soytürk M, Akar S, Pepys MB, Hawkins PN (1999) Acute phase response and evolution of familial Mediterranean fever. Lancet 353:1415CrossRef
52.
go back to reference Duzova A, Bakkaloglu A, Yilmaz E, Besbas N, Topaloglu R, Besbas N (2002) Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S81 Duzova A, Bakkaloglu A, Yilmaz E, Besbas N, Topaloglu R, Besbas N (2002) Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S81
53.
go back to reference Bakkaloglu A, Duzova A, Balci B, Besbas N, Topaloglu R, Ozen S (2002) The effect of SAA-1, SAA-2 gene polymorphisms on renal amyloidosis and A-SAA levels in patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S80 Bakkaloglu A, Duzova A, Balci B, Besbas N, Topaloglu R, Ozen S (2002) The effect of SAA-1, SAA-2 gene polymorphisms on renal amyloidosis and A-SAA levels in patients with FMF (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S80
54.
go back to reference Said R, Hamzeh Y, Said S, Tarawneh M, al-Khateeb M (1992) Spectrum of renal involvement in familial Mediterranean fever. Kidney Int 41:414–419PubMed Said R, Hamzeh Y, Said S, Tarawneh M, al-Khateeb M (1992) Spectrum of renal involvement in familial Mediterranean fever. Kidney Int 41:414–419PubMed
55.
go back to reference Said R, Hamzeh Y, Tarawneh M, el-Khateeb M, Abdeen M, Shaheen A (1989) Rapidly progressive glomerulonephritis in patients with familial Mediterranean fever. Am J Kidney Dis 14:412–416PubMed Said R, Hamzeh Y, Tarawneh M, el-Khateeb M, Abdeen M, Shaheen A (1989) Rapidly progressive glomerulonephritis in patients with familial Mediterranean fever. Am J Kidney Dis 14:412–416PubMed
56.
go back to reference Yalcinkaya F, Tumer N, Tulunay O, Tekin M (1997) FMF related non-amyloid glomerular diseases. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the 1st International Conference on FMF, Jerusalem, 1997. Freund, Tel Aviv, pp 175–180 Yalcinkaya F, Tumer N, Tulunay O, Tekin M (1997) FMF related non-amyloid glomerular diseases. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the 1st International Conference on FMF, Jerusalem, 1997. Freund, Tel Aviv, pp 175–180
57.
go back to reference Bakkaloglu A, Ozen S, Topaloğlu R, Dusunsel R, Simsek H, on behalf of the Turkish FMF Study Group (2002) Associated diseases in Turkish FMF patients: are patients predisposed to develop vasculitides (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S90 Bakkaloglu A, Ozen S, Topaloğlu R, Dusunsel R, Simsek H, on behalf of the Turkish FMF Study Group (2002) Associated diseases in Turkish FMF patients: are patients predisposed to develop vasculitides (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S90
58.
go back to reference Ozdogan H, Arisoy N, Kasapcapur O, Sever L, Caliskan S, Tuzuner N, Mat C, Yazici H (1997) Vasculitis in familial Mediterranean fever. J Rheumatol 24:323–327PubMed Ozdogan H, Arisoy N, Kasapcapur O, Sever L, Caliskan S, Tuzuner N, Mat C, Yazici H (1997) Vasculitis in familial Mediterranean fever. J Rheumatol 24:323–327PubMed
59.
go back to reference Glikson M, Galun E, Schlesinger M, Cohen D, Haskell L, Rubinow A, Eliakim M (1989) Polyarteritis nodosa and familial Mediterranean fever: a report of 2 cases and review of the literature. J Rheumatol 16:536–539PubMed Glikson M, Galun E, Schlesinger M, Cohen D, Haskell L, Rubinow A, Eliakim M (1989) Polyarteritis nodosa and familial Mediterranean fever: a report of 2 cases and review of the literature. J Rheumatol 16:536–539PubMed
60.
go back to reference Tinaztepe K, Gucer S, Bakkaloglu A, Tinaztepe B (1997) Familial Mediterranean fever and polyarteritis nodosa: experience of five pediatric cases. A causal relationship or coincidence? Eur J Pediatr 156:505–506 Tinaztepe K, Gucer S, Bakkaloglu A, Tinaztepe B (1997) Familial Mediterranean fever and polyarteritis nodosa: experience of five pediatric cases. A causal relationship or coincidence? Eur J Pediatr 156:505–506
61.
go back to reference Tekin M, Yalcinkaya F, Tumer N, Akar N, Misirlioglu M, Cakar N (2000) Clinical, laboratory and molecular characteristics of children with familial Mediterranean fever-associated vasculitis. Acta Paediatr 89:177–182CrossRefPubMed Tekin M, Yalcinkaya F, Tumer N, Akar N, Misirlioglu M, Cakar N (2000) Clinical, laboratory and molecular characteristics of children with familial Mediterranean fever-associated vasculitis. Acta Paediatr 89:177–182CrossRefPubMed
62.
go back to reference Kocak H, Cakar N, Hekimoglu B, Atakan C, Akkök N, Unal S (1996) The coexistence of familial Mediterranean fever and polyarteritis nodosa. Pediatr Nephrol 10:631–633CrossRefPubMed Kocak H, Cakar N, Hekimoglu B, Atakan C, Akkök N, Unal S (1996) The coexistence of familial Mediterranean fever and polyarteritis nodosa. Pediatr Nephrol 10:631–633CrossRefPubMed
63.
go back to reference Langevitz P, Zemer D, Livneh A, Shemer J, Pras M (1994) Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 21:1708–1709PubMed Langevitz P, Zemer D, Livneh A, Shemer J, Pras M (1994) Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 21:1708–1709PubMed
64.
go back to reference Savi M, Asinari G, Gaudiano V, Olivetti G, Neri TM (1978) Unusual immunologic findings in familial Mediterranean fever. Arch Intern Med 138:644–645CrossRefPubMed Savi M, Asinari G, Gaudiano V, Olivetti G, Neri TM (1978) Unusual immunologic findings in familial Mediterranean fever. Arch Intern Med 138:644–645CrossRefPubMed
65.
go back to reference Zlotnick A, Levo Y, Fishel R, Ehrenfeld M, Levy M, Shouval D, Eliakin M (1979) Circulating immune complexes in familial Mediterranean fever, systemic lupus erythematosus and HBsAg carriers. Harefuah 99:55–57 Zlotnick A, Levo Y, Fishel R, Ehrenfeld M, Levy M, Shouval D, Eliakin M (1979) Circulating immune complexes in familial Mediterranean fever, systemic lupus erythematosus and HBsAg carriers. Harefuah 99:55–57
66.
go back to reference Schlesinger M, Kopolovic J, Viskoper RJ, Ron N (1983) A case of familial Mediterranean fever with cutaneous vasculitis and immune complexes nephritis: light, electron, and immunofluorescent study of renal biopsy. Am J Clin Pathol 80:511–514PubMed Schlesinger M, Kopolovic J, Viskoper RJ, Ron N (1983) A case of familial Mediterranean fever with cutaneous vasculitis and immune complexes nephritis: light, electron, and immunofluorescent study of renal biopsy. Am J Clin Pathol 80:511–514PubMed
67.
go back to reference Henckes M, Roskams T, Vanneste S, Van Damme B, Vanrenterghem Y (1994) Polyarteritis nodosa type vasculitis in a patient with familial Mediterranean fever treated with cyclosporin A. Transpl Int 7:292–296PubMed Henckes M, Roskams T, Vanneste S, Van Damme B, Vanrenterghem Y (1994) Polyarteritis nodosa type vasculitis in a patient with familial Mediterranean fever treated with cyclosporin A. Transpl Int 7:292–296PubMed
68.
go back to reference Ben-Chetrit E, Yazici H (2002) Thoughts on the proposed links between Behçet's disease and familial Mediterranean fever. Clin Exp Rheumatol 20 [Suppl 26]:S1–S2 Ben-Chetrit E, Yazici H (2002) Thoughts on the proposed links between Behçet's disease and familial Mediterranean fever. Clin Exp Rheumatol 20 [Suppl 26]:S1–S2
69.
go back to reference Goldfinger SE (1972) Colchicine for familial Mediterranean fever. N Engl J Med 287:1302 Goldfinger SE (1972) Colchicine for familial Mediterranean fever. N Engl J Med 287:1302
70.
go back to reference Ozkan E, Okur O, Ekmekci A, Ozcan R, Tag T (1972) A new approach to the treatment of periodic fever. Med Bull Istanbul 44–49 Ozkan E, Okur O, Ekmekci A, Ozcan R, Tag T (1972) A new approach to the treatment of periodic fever. Med Bull Istanbul 44–49
71.
go back to reference Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, Gafni J (1974) A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med 291:932–934PubMed Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, Gafni J (1974) A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med 291:932–934PubMed
72.
go back to reference Molad Y, Reibman J, Levin RI, Cronstein BN (1992) A new mode of action for an old drug: colchicine decrease surface expression of adhesion molecules on both neutrophils (PMNs) and endothelium (abstract). Arthritis Rheum 35 [Suppl]:S35 Molad Y, Reibman J, Levin RI, Cronstein BN (1992) A new mode of action for an old drug: colchicine decrease surface expression of adhesion molecules on both neutrophils (PMNs) and endothelium (abstract). Arthritis Rheum 35 [Suppl]:S35
73.
go back to reference Caner JEZ (1965) Colchicine inhibition of chemotaxis. Arthritis Rheum 8:757–764PubMed Caner JEZ (1965) Colchicine inhibition of chemotaxis. Arthritis Rheum 8:757–764PubMed
74.
75.
go back to reference Andreu JM, Timasheff SN (1982) Interaction of tubulin with single ring analogue of colchicine. Biochemistry 21:534–543PubMed Andreu JM, Timasheff SN (1982) Interaction of tubulin with single ring analogue of colchicine. Biochemistry 21:534–543PubMed
76.
go back to reference Ben-Chetrit E, Levy N (1998) Colchicine: 1998 update. Semin Arthritis Rheum 28:48–59PubMed Ben-Chetrit E, Levy N (1998) Colchicine: 1998 update. Semin Arthritis Rheum 28:48–59PubMed
77.
go back to reference Rabinovitch O, Zemer D, Kukia E, Sohar E, Mashiach S (1992) Colchicine treatment in conception and pregnancy: two hundred thirty-one pregnancies in patients with familial Mediterranean fever. Am J Reprod Immunol 28:245–246PubMed Rabinovitch O, Zemer D, Kukia E, Sohar E, Mashiach S (1992) Colchicine treatment in conception and pregnancy: two hundred thirty-one pregnancies in patients with familial Mediterranean fever. Am J Reprod Immunol 28:245–246PubMed
78.
go back to reference Barkai G, Meital Y, Chetrit A, Barell V, Aviram A, Zemer D (1997) Evaluation of pregnancy outcome among FMF colchicine treated women (abstract). 1st International Conference on FMF, September 1997, Jerusalem, Israel Barkai G, Meital Y, Chetrit A, Barell V, Aviram A, Zemer D (1997) Evaluation of pregnancy outcome among FMF colchicine treated women (abstract). 1st International Conference on FMF, September 1997, Jerusalem, Israel
79.
go back to reference Tunca M, Tankurt E, Akbaylar Akpinar H, Akar S, Hizli N, Gonen O (1997) The efficacy of interferon alpha on colchicine resistant familial Mediterranean fever attacks: a pilot study. Br J Rheumatol 36:1005–1008CrossRefPubMed Tunca M, Tankurt E, Akbaylar Akpinar H, Akar S, Hizli N, Gonen O (1997) The efficacy of interferon alpha on colchicine resistant familial Mediterranean fever attacks: a pilot study. Br J Rheumatol 36:1005–1008CrossRefPubMed
80.
go back to reference Seyahi E, Ozdogan H, Masatlioglu S, Yazici H (2002) Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clin Exp Rheumatol 20 [Suppl 26]:S43–S44 Seyahi E, Ozdogan H, Masatlioglu S, Yazici H (2002) Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clin Exp Rheumatol 20 [Suppl 26]:S43–S44
81.
go back to reference Milledge J, Shaw PJ, Mansour A, Williamson S, Bennetts B, Roscioli T, Curtin J, Christodoulou J (2002) Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood 100:774–777CrossRefPubMed Milledge J, Shaw PJ, Mansour A, Williamson S, Bennetts B, Roscioli T, Curtin J, Christodoulou J (2002) Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood 100:774–777CrossRefPubMed
82.
go back to reference Drenth JP, Cuisset L, Grateau G, Vasseur C, Velde-Visser SD van de, Jong JG de, Beckmann JS, Meer JW van der, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 22:178–181CrossRefPubMed Drenth JP, Cuisset L, Grateau G, Vasseur C, Velde-Visser SD van de, Jong JG de, Beckmann JS, Meer JW van der, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 22:178–181CrossRefPubMed
83.
go back to reference McDermott EM, Smillie DM, Powell RJ (1997) Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 72:806–817PubMed McDermott EM, Smillie DM, Powell RJ (1997) Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 72:806–817PubMed
84.
go back to reference Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, Migdal A, Pras M, Passwell JH (1999) Periodic fever, aphthous stomatitis, pharyngitis and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 135:98–101PubMed Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, Migdal A, Pras M, Passwell JH (1999) Periodic fever, aphthous stomatitis, pharyngitis and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 135:98–101PubMed
85.
go back to reference Muckle TJ, Wells MV (1962) Urticaria, deafness and amyloidosis: a hereditary syndrome. QJM 31:235–247 Muckle TJ, Wells MV (1962) Urticaria, deafness and amyloidosis: a hereditary syndrome. QJM 31:235–247
86.
go back to reference Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G (1999) Genetic linkage of Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 65:1054–1059CrossRefPubMed Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G (1999) Genetic linkage of Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 65:1054–1059CrossRefPubMed
87.
go back to reference Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM (1987) A chronic, infantile, neurologic, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol 66:57–68 Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM (1987) A chronic, infantile, neurologic, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol 66:57–68
Metadata
Title
Familial Mediterranean fever
Author
Aysin Bakkaloglu
Publication date
01-09-2003
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 9/2003
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-003-1185-2

Other articles of this Issue 9/2003

Pediatric Nephrology 9/2003 Go to the issue

Clinical Quiz

Answer