Materiały źródłowe

• #1 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #2 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis/print

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. This topic will review the epidemiology, genetics, and pathogenesis of FMF. […] It is hypothesized that familial Mediterranean fever (FMF) originated more than 3000 years ago in Mesopotamia. From there, the disease spread to Armenia and Turkey in the Ancient World. In the modern world, globalization has led to further spread to countries far from the Mediterranean basin. […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. Studies about the current prevalence of the disease in these countries are scarce. However, previous studies showed that the prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey. Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs.

• #3 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis/print

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. This topic will review the epidemiology, genetics, and pathogenesis of FMF. […] It is hypothesized that familial Mediterranean fever (FMF) originated more than 3000 years ago in Mesopotamia. From there, the disease spread to Armenia and Turkey in the Ancient World. In the modern world, globalization has led to further spread to countries far from the Mediterranean basin. […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. Studies about the current prevalence of the disease in these countries are scarce. However, previous studies showed that the prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey. Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs.

• #4 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. […] The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. […] Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. […] The first criteria set for FMF was proposed mainly for adults and these criteria are referred to as Tel-Hashomer criteria. […] Recently, the Eurofever/PRINTO group published new classification criteria, including a combination of ethnicity, clinical manifestations and genotype.

• #5 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #6 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis/print

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. This topic will review the epidemiology, genetics, and pathogenesis of FMF. […] It is hypothesized that familial Mediterranean fever (FMF) originated more than 3000 years ago in Mesopotamia. From there, the disease spread to Armenia and Turkey in the Ancient World. In the modern world, globalization has led to further spread to countries far from the Mediterranean basin. […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. Studies about the current prevalence of the disease in these countries are scarce. However, previous studies showed that the prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey. Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs.

• #7 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. […] In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. […] Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs. […] FMF has also been reported at a lower prevalence in many other areas outside the Mediterranean basin and in people with various types of ancestries, including patients in Greece, Italy, Japan, and China. […] In the Balkans, the number of FMF patients and the carriage rate of MEFV variants decrease with increasing distance from Turkey, which may reflect the expansion of the Ottoman Empire in this area.

• #8 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #9 An Update on Familial Mediterranean Fever

  https://www.mdpi.com/1422-0067/24/11/9584

  Familial Mediterranean Fever (FMF) is prevalent in countries surrounding the Mediterranean Sea, especially affecting Turks, Arabs, Armenians, and Non-Ashkenazi Jews. Turkey is probably the country with the greatest prevalence, which is reported to be 1:1000 overall, with interregional differences. A nationwide multicentre study performed in Turkey shows that patients with FMF originate mainly from the non-Mediterranean regions, with over 70% of the cases from central and eastern Anatolia and the inner Black Sea regions. […] Similarly, in Italy, the distribution of cases varies between northern and southern districts, the latter having a much higher occurrence of FMF. This phenomenon may be explained, at least partially, by the ancient colonization of the area by Greeks and Arabs and by the Jews’ migratory fluxes.

• #10 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #11 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  In Armenian persons (based on epidemiology among Armenian populations in Lebanon and southern California), the estimated prevalence of FMF is 1 case per 500 population, with a gene frequency of 1 per 7. […] Turkish people (from one study) may have a prevalence of approximately 1 case per 1000 population. […] Arabic people (from one study) may have a prevalence of 1 case per 2600 population in children and a gene frequency of 1 per 50. […] Since the development of gene testing, which allows confirmation of FMF in some cases, the disease has been reported in unexpected locations, including by two Japanese groups. […] Migrations of guest workers around the world have highlighted the need for physicians to think about formerly uncommon illnesses in their home countries and the need for review articles in national journals.

• #12 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #13 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  The frequency of FMF in any location depends on the ethnic background of the population. To survive ethnic and religious persecution, many Mediterranean families converted to other religions or intermarried members of other ethnic groups, thus carrying the MEFV gene with them. […] In Ashkenazi Jewish people (descended from Eastern European Jewish people and including most European and American Jewish people), the prevalence of FMF is 1 case per 73,000 population, with a MEFV gene frequency now estimated at perhaps 1 per 5, in contrast to previous estimates of 1 per 135. […] In Sephardic Jewish people (descended from Jewish people who were expelled from Spain, largely to North Africa, and including other Middle Eastern Jewish populations), the prevalence of FMF is 1 case per 250-1000 population, with a gene frequency of 1 per 8-16.

• #14 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. […] In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. […] Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs. […] FMF has also been reported at a lower prevalence in many other areas outside the Mediterranean basin and in people with various types of ancestries, including patients in Greece, Italy, Japan, and China. […] In the Balkans, the number of FMF patients and the carriage rate of MEFV variants decrease with increasing distance from Turkey, which may reflect the expansion of the Ottoman Empire in this area.

• #15 An Update on Familial Mediterranean Fever

  https://www.mdpi.com/1422-0067/24/11/9584

  Familial Mediterranean Fever (FMF) is prevalent in countries surrounding the Mediterranean Sea, especially affecting Turks, Arabs, Armenians, and Non-Ashkenazi Jews. Turkey is probably the country with the greatest prevalence, which is reported to be 1:1000 overall, with interregional differences. A nationwide multicentre study performed in Turkey shows that patients with FMF originate mainly from the non-Mediterranean regions, with over 70% of the cases from central and eastern Anatolia and the inner Black Sea regions. […] Similarly, in Italy, the distribution of cases varies between northern and southern districts, the latter having a much higher occurrence of FMF. This phenomenon may be explained, at least partially, by the ancient colonization of the area by Greeks and Arabs and by the Jews’ migratory fluxes.

• #16 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Armenia is the second most affected country, with an estimated FMF prevalence of 1 case per 500 people and a carrier rate of 1 in 7. […] In Israel, FMF prevalence varies by ethnic group, ranging from 1 in 500 to 1 in 1000 among non-Ashkenazi Jews, and 1 in 73,000 among Ashkenazi Jews. […] Additionally, the carrier rates for MEFV variants are 1 in 5 among Iraqi Jews, 1 in 3.5 among Moroccan Jews, and 1 in 4.3 among Muslim Arabs. […] FMF has also been reported at a lower prevalence in many other areas outside the Mediterranean basin and in people with various types of ancestries, including patients in Greece, Italy, Japan, and China. […] In the Balkans, the number of FMF patients and the carriage rate of MEFV variants decrease with increasing distance from Turkey, which may reflect the expansion of the Ottoman Empire in this area.

• #17 An Update on Familial Mediterranean Fever

  https://www.mdpi.com/1422-0067/24/11/9584

  It is possible that MEFV mutations arose in pre-Biblical times and that Jews, being genetically isolated, might represent the most likely candidate founder population for several common MEFV mutations, with a prevalence in Israel of roughly 1–2:1000. In the Armenian population, the same prevalence has been calculated. Additionally, the carrier rate of FMF mutations in Armenians was shown to be 1:5, as high as in North African and Iraqi Jews and Turks but lower than in Moroccan Jews (1:3.5) and Muslim Arabs (1:4.3). Such an elevated number of carriers, resulting from a founder effect, does not correlate with the real prevalence of patients with a diagnosis of FMF, since the detection of a single mutation (heterozygosity) does not help in making the diagnosis. […] In addition to the above countries, FMF is found in North African countries, Greece, Crete, France, Germany, and the US. In most of these countries, the presence of FMF is largely related to robust emigration from Mediterranean countries. Many studies have shown the presence of different severity in FMF according to the country of residence, totally or partially independent of the pathogenicity of MEFV variants and ethnicity. The incidence of amyloidosis is much higher in Turk and Armenian patients living in their country of origin with respect to the same population emigrating to northern Europe or the US. The same phenomenon was also reported in children by the international Eurofever registry, which showed how children living in Western Europe displayed a less severe disease activity independently from their ethnicity. These observations likely reflect the burden of environmental factors (i.e., infections) as possible triggers for a more robust inflammatory response in Mediterranean countries. […] Finally, a milder form of FMF is also present in Japan, with a lower prevalence of abdominal manifestations, a higher median age of onset, and a lower frequency of complications (AA amyloidosis) as compared to Mediterranean patients, probably due to differences in MEFV gene mutations.

• #18 Frontiers | Familial Mediterranean fever in Romania: a case report and literature review

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1546387/full

  Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. […] FMF is predominantly found in Eastern Mediterranean populations, such as non-Ashkenazi Jews, Armenians, Turks, and Arabs. The highest prevalence of FMF is found in Turkey, with a reported rate of 1 in 1,000. […] In Eastern and Central European countries, including Romania, the estimated prevalence of FMF is significantly lower. A multinational study conducted in 2010 estimated the prevalence to be approximately 1 in 465,500 children between the ages of 0 and 19. […] This case highlights the challenge of diagnosing FMF in a geographical area where this pathology is rare.

• #19 Familial Mediterranean fever: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/

  Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. […] Familial Mediterranean fever is usually inherited in an autosomal recessive pattern, which means both copies of the MEFV gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Research shows that about one-third of people with familial Mediterranean fever have a single MEFV gene variant, though most experts believe there is a second variant somewhere else in the gene that has not been detected by genetic testing.

• #20 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #21 Familial Mediterranean Fever: Causes, Diagnosis, and Treatment

  https://www.verywellhealth.com/familial-mediterranean-fever-4159712

  Familial Mediterranean fever (FMF) is a rare genetic disorder that is primarily seen in some ethnic populations. […] While rare in the general population, FMF is seen more frequently in Sephardic Jews, Mizrahi Jews, Armenians, Azerbaijanis, Arabs, Greeks, Turks, and Italians. […] As rare as FMF is in the general population, there are groups in which the risk of FMF is considerably higher. The risk is largely constrained to so-called „founder populations” in which groups can trace the roots of a disease back to a common ancestor. […] Variations of the MEFV mutation have been traced back as far as biblical times when Jewish sailors began the migration from Southern Europe to North Africa and the Middle East. Following are among the groups most commonly affected by FMF: Sephardic Jews, whose descendants were expelled from Spain during the 15th century, have a one in eight chance of carrying the MEFV gene and a one in 250 chance of getting the disease. […] Armenians have a one in seven chance of carrying the MEFV mutation and a one in 500 chance of developing the disease. […] Turkish and Arabic people have between a one in 1,000 to one in 2,000 chance of getting FMF.

• #22 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  The frequency of FMF in any location depends on the ethnic background of the population. To survive ethnic and religious persecution, many Mediterranean families converted to other religions or intermarried members of other ethnic groups, thus carrying the MEFV gene with them. […] In Ashkenazi Jewish people (descended from Eastern European Jewish people and including most European and American Jewish people), the prevalence of FMF is 1 case per 73,000 population, with a MEFV gene frequency now estimated at perhaps 1 per 5, in contrast to previous estimates of 1 per 135. […] In Sephardic Jewish people (descended from Jewish people who were expelled from Spain, largely to North Africa, and including other Middle Eastern Jewish populations), the prevalence of FMF is 1 case per 250-1000 population, with a gene frequency of 1 per 8-16.

• #23 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  In Armenian persons (based on epidemiology among Armenian populations in Lebanon and southern California), the estimated prevalence of FMF is 1 case per 500 population, with a gene frequency of 1 per 7. […] Turkish people (from one study) may have a prevalence of approximately 1 case per 1000 population. […] Arabic people (from one study) may have a prevalence of 1 case per 2600 population in children and a gene frequency of 1 per 50. […] Since the development of gene testing, which allows confirmation of FMF in some cases, the disease has been reported in unexpected locations, including by two Japanese groups. […] Migrations of guest workers around the world have highlighted the need for physicians to think about formerly uncommon illnesses in their home countries and the need for review articles in national journals.

• #24 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  In Armenian persons (based on epidemiology among Armenian populations in Lebanon and southern California), the estimated prevalence of FMF is 1 case per 500 population, with a gene frequency of 1 per 7. […] Turkish people (from one study) may have a prevalence of approximately 1 case per 1000 population. […] Arabic people (from one study) may have a prevalence of 1 case per 2600 population in children and a gene frequency of 1 per 50. […] Since the development of gene testing, which allows confirmation of FMF in some cases, the disease has been reported in unexpected locations, including by two Japanese groups. […] Migrations of guest workers around the world have highlighted the need for physicians to think about formerly uncommon illnesses in their home countries and the need for review articles in national journals.

• #25 Familial Mediterranean fever: Epidemiology, genetics, and pathogenesis – UpToDate

  https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder and is associated with mutations in the MEFV (Mediterranean Fever) gene. FMF is characterized by recurrent attacks of fever and symptoms consistent with serosal inflammation. This topic will review the epidemiology, genetics, and pathogenesis of FMF. The evolving geographic reach of FMF is reflected in regional variations in prevalence: […] FMF is most prevalent in individuals of Turkish, Armenian, Middle Eastern, Non-Ashkenazi Jewish, and Arab descent living mainly around the Mediterranean basin. […] The prevalence rate in Turkey ranged from 1 in 150 to 1 in 10,000, depending on regional differences; the highest reported prevalence (1 in 395) came from the central Anatolia region, while the lowest (6 in 10,000) was in the northwestern region of Turkey.

• #26 An Update on Familial Mediterranean Fever

  https://www.mdpi.com/1422-0067/24/11/9584

  It is possible that MEFV mutations arose in pre-Biblical times and that Jews, being genetically isolated, might represent the most likely candidate founder population for several common MEFV mutations, with a prevalence in Israel of roughly 1–2:1000. In the Armenian population, the same prevalence has been calculated. Additionally, the carrier rate of FMF mutations in Armenians was shown to be 1:5, as high as in North African and Iraqi Jews and Turks but lower than in Moroccan Jews (1:3.5) and Muslim Arabs (1:4.3). Such an elevated number of carriers, resulting from a founder effect, does not correlate with the real prevalence of patients with a diagnosis of FMF, since the detection of a single mutation (heterozygosity) does not help in making the diagnosis. […] In addition to the above countries, FMF is found in North African countries, Greece, Crete, France, Germany, and the US. In most of these countries, the presence of FMF is largely related to robust emigration from Mediterranean countries. Many studies have shown the presence of different severity in FMF according to the country of residence, totally or partially independent of the pathogenicity of MEFV variants and ethnicity. The incidence of amyloidosis is much higher in Turk and Armenian patients living in their country of origin with respect to the same population emigrating to northern Europe or the US. The same phenomenon was also reported in children by the international Eurofever registry, which showed how children living in Western Europe displayed a less severe disease activity independently from their ethnicity. These observations likely reflect the burden of environmental factors (i.e., infections) as possible triggers for a more robust inflammatory response in Mediterranean countries. […] Finally, a milder form of FMF is also present in Japan, with a lower prevalence of abdominal manifestations, a higher median age of onset, and a lower frequency of complications (AA amyloidosis) as compared to Mediterranean patients, probably due to differences in MEFV gene mutations.

• #27 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  In adults, FMF is more prevalent in men than in women, with a male-to-female ratio of 1.5-2:1. […] At onset of symptoms, 50-60% of persons with FMF are younger than 10 years, 80-95% are younger than 20 years, and 5-10% are older than 20 years. Onset in persons older than 40 years is rare, and these individuals tend to experience milder disease.

• #28 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560754/

  Familial Mediterranean fever (FMF) is commonly seen in people of Mediterranean and Middle Eastern descent, including Jews, Armenians, Arabs, Kurds, Greeks, Turks, Iranians, and Italians. The carrier rate of FMF is around 1 in 5 healthy individuals in Armenia. […] In Turkey, one of the field surveys showed the prevalence of FMF to be around 1 in 1000 children. […] According to most of the studies, there appears to be no significant difference in the incidence of FMF in males or females. A nationwide survey in Turkey showed the ratio of the incidence of FMF was almost equal male to female ratio of 1.2/1. […] In the United States, FMF is usually observed in Ashkenazi Jews and in those individuals who emigrate from the above mentioned geographical locations.

• #29 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/330284-overview

  In adults, FMF is more prevalent in men than in women, with a male-to-female ratio of 1.5-2:1. […] At onset of symptoms, 50-60% of persons with FMF are younger than 10 years, 80-95% are younger than 20 years, and 5-10% are older than 20 years. Onset in persons older than 40 years is rare, and these individuals tend to experience milder disease.

• #30 Frontiers | Familial Mediterranean fever in Romania: a case report and literature review

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1546387/full

  The objectives in treating FMF include enhancing quality of life, decreasing the frequency, severity, and duration of attacks, and preventing long-term complications, especially AA amyloidosis, by reducing chronic and subclinical inflammation. […] FMF diagnosis is based on patient history, inflammatory markers, and increasingly on genetic testing. Various diagnostic criteria sets, including the Tel Hashomer, Livneh, and Turkish pediatric criteria, focus on clinical symptoms, family history, and response to colchicine. […] A recent study conducted on the largest childhood FMF cohort in the United States, a non-endemic area, concluded that a negative family history should not exclude FMF as a potential cause of periodic fever.

• #31 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. […] The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. […] Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. […] The first criteria set for FMF was proposed mainly for adults and these criteria are referred to as Tel-Hashomer criteria. […] Recently, the Eurofever/PRINTO group published new classification criteria, including a combination of ethnicity, clinical manifestations and genotype.

• #32 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. […] The high rate of MEFV gene mutations in specific populations has been discussed as the result of an evolutionary advantage. […] Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. […] The first criteria set for FMF was proposed mainly for adults and these criteria are referred to as Tel-Hashomer criteria. […] Recently, the Eurofever/PRINTO group published new classification criteria, including a combination of ethnicity, clinical manifestations and genotype.

• #33 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  The combination of clinical findings and genetic testing increased the sensitivity. […] Since 1997, the discovery of the link between the MEFV gene and FMF has increased the number of variants gradually, causing problems when it comes to deciding which variants are pathogenic. […] Up-to-date recommendations for the genetic diagnosis of FMF are in Table 2. […] These recommendations are supported by “The ISAAID/EMQN Best Practice Guidelines for the genetic diagnosis of monogenic autoinflammatory disease”. […] Although FMF is an autosomal recessive disease, some patients with heterozygous mutations also presented with typical FMF clinical features. […] The suggested colchicine dosage for children less than five years old is ≤0.5 mg/day and for children between five and ten years of age, it is 0.5–1.0 mg/day.

• #34 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  The combination of clinical findings and genetic testing increased the sensitivity. […] Since 1997, the discovery of the link between the MEFV gene and FMF has increased the number of variants gradually, causing problems when it comes to deciding which variants are pathogenic. […] Up-to-date recommendations for the genetic diagnosis of FMF are in Table 2. […] These recommendations are supported by “The ISAAID/EMQN Best Practice Guidelines for the genetic diagnosis of monogenic autoinflammatory disease”. […] Although FMF is an autosomal recessive disease, some patients with heterozygous mutations also presented with typical FMF clinical features. […] The suggested colchicine dosage for children less than five years old is ≤0.5 mg/day and for children between five and ten years of age, it is 0.5–1.0 mg/day.

• #35 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  The combination of clinical findings and genetic testing increased the sensitivity. […] Since 1997, the discovery of the link between the MEFV gene and FMF has increased the number of variants gradually, causing problems when it comes to deciding which variants are pathogenic. […] Up-to-date recommendations for the genetic diagnosis of FMF are in Table 2. […] These recommendations are supported by “The ISAAID/EMQN Best Practice Guidelines for the genetic diagnosis of monogenic autoinflammatory disease”. […] Although FMF is an autosomal recessive disease, some patients with heterozygous mutations also presented with typical FMF clinical features. […] The suggested colchicine dosage for children less than five years old is ≤0.5 mg/day and for children between five and ten years of age, it is 0.5–1.0 mg/day.

• #36 Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic | Genetics in Medicine

  https://www.nature.com/articles/gim9201147

  Diagnostic molecular testing comprises different testing strategies depending on the ethnicity of the patient involved and the clinical situation. […] The five most prevalent mutations p.M680I, p.M694V, p.M694I, p.V726A (all in exon 10) and p.E148Q (exon 2) are thought to be responsible for 85% of patients with classic FMF. […] Treatment of FMF is centered on prevention of painful attacks and the development of amyloidosis. […] Colchicine is the gold standard and indeed the only recommended drug for treating FMF. […] UCLA has a large clinic dedicated to the diagnosis and treatment of patients with FMF. […] It is the largest clinic of its kind in the Western hemisphere, with more than 700 registered patients.

• #37 Familial Mediterranean fever – Wikipedia

  https://en.wikipedia.org/wiki/Familial_Mediterranean_fever

  FMF affects groups of people originating in the Levant or Eastern Mediterranean (hence its name); it is thus most prominent among those from or with ancestry from the regions including Arabs, Armenians, Jews (particularly Sephardi, Mizrahi, and to a lesser degree Ashkenazi Jews), and Turks.[5][2][29][30] […] A genetic test is also available to detect mutations in the MEFV gene. Sequencing of exons 2, 3, 5, and 10 of this gene detects an estimated 97% of all known mutations.[2]

• #38 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  The combination of clinical findings and genetic testing increased the sensitivity. […] Since 1997, the discovery of the link between the MEFV gene and FMF has increased the number of variants gradually, causing problems when it comes to deciding which variants are pathogenic. […] Up-to-date recommendations for the genetic diagnosis of FMF are in Table 2. […] These recommendations are supported by “The ISAAID/EMQN Best Practice Guidelines for the genetic diagnosis of monogenic autoinflammatory disease”. […] Although FMF is an autosomal recessive disease, some patients with heterozygous mutations also presented with typical FMF clinical features. […] The suggested colchicine dosage for children less than five years old is ≤0.5 mg/day and for children between five and ten years of age, it is 0.5–1.0 mg/day.

• #39 Familial Mediterranean fever: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/

  Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. […] Familial Mediterranean fever is usually inherited in an autosomal recessive pattern, which means both copies of the MEFV gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Research shows that about one-third of people with familial Mediterranean fever have a single MEFV gene variant, though most experts believe there is a second variant somewhere else in the gene that has not been detected by genetic testing.

• #40 Familial Mediterranean fever: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/

  In rare cases, this condition appears to be inherited in an autosomal dominant pattern. An autosomal dominant inheritance pattern describes cases in which one copy of the altered gene in each cell is sufficient to cause the disorder. In autosomal dominant inheritance, affected individuals often inherit the variant from one affected parent.

• #41 Familial Mediterranean Fever (MEFV) Sequencing | Test Fact Sheet

  https://arupconsult.com/ati/familial-mediterranean-fever-mefv-sequencing

  FMF is common among ethnic groups in the Mediterranean region, including individuals with Ashkenazi Jewish, Armenian, Turkish, Arab, North African Jewish, and Iraqi Jewish ancestry. Incidences of 1 in 400 to 1 in 1000 have been reported in these regions. […] Medical management should rely on clinical findings. Surveillance of the literature for new information concerning the uncertain variant is recommended.

• #42 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  Familial Mediterranean fever is inherited in an autosomal recessive manner. […] FMF is divided into two phenotypes, types 1 and 2. […] The prevalence of amyloidosis varies by ethnicity, genotype, and gender. […] The clinical picture of FMF in Arabs seems to be distinct, and the range and distribution of MEFV mutations are different from those noted in other ethnic groups. […] The country of residence of the patient, rather than MEFV genotype, seems to be the key risk factor for renal amyloidosis in FMF. […] Molecular genetic testing should be offered to all first-degree relatives and other family members whether or not they have symptoms. […] Individuals treated with colchicine should undergo an annual physical examination, including a urine spot test for protein.

• #43 What is familial Mediterranean fever? | UCLA

  https://newsroom.ucla.edu/stories/what-is-familial-mediterranean-fever-genetic-disorder

  Sometimes known as Armenian disease, familial Mediterranean fever is an inherited condition that particularly affects those of Armenian, Arab, Jewish, Turkish and other ethnic backgrounds originating in the Mediterranean region. […] FMF is an inherited condition that particularly affects those of Arab, Armenian, Jewish, Turkish and other ethnic backgrounds originating in the Mediterranean region. […] Its most prevalent, due to the high carrier rate, in people of Armenian descent. And we have more Armenians in Los Angeles than anywhere except Armenia itself. […] The Familial Mediterranean Fever Program at UCLA is the only one in the Western Hemisphere dedicated to the autoinflammatory condition. […] Patients with undiagnosed FMF may periodically suffer for years from excruciating abdominal pain, fever and painful inflammation in other parts of the body such as the joints and the chest.

• #44 Familial Mediterranean fever – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/1163

  Familial Mediterranean fever occurs mainly in people of Mediterranean ancestry, especially from Arab countries, Turkey, Israel, and Armenia. […] The genetic definition is disease caused by Mendelian-recessive inheritance due to mutations in the Mediterranean fever (MEFV) gene coding for a protein named marenostrin/pyrin. MEFV gene analysis is the only objective tool that confirms the diagnosis of FMF. […] FMF mainly affects populations from the Mediterranean basin, especially people of Arab, Turkish, Sephardic Jewish, and Armenian ancestry, in whom the disease is relatively frequent. […] The reason FMF carriers may express symptoms is still unclear. Therefore, the diagnosis remains predominantly clinical because mutations cannot always be identified on both alleles, even after complete gene analysis. […] FMF’s major complication is systemic secondary amyloidosis. This can readily be prevented by colchicine prophylaxis, which explains the need for prompt and accurate diagnosis.

• #45 An Update on Familial Mediterranean Fever

  https://www.mdpi.com/1422-0067/24/11/9584

  It is possible that MEFV mutations arose in pre-Biblical times and that Jews, being genetically isolated, might represent the most likely candidate founder population for several common MEFV mutations, with a prevalence in Israel of roughly 1–2:1000. In the Armenian population, the same prevalence has been calculated. Additionally, the carrier rate of FMF mutations in Armenians was shown to be 1:5, as high as in North African and Iraqi Jews and Turks but lower than in Moroccan Jews (1:3.5) and Muslim Arabs (1:4.3). Such an elevated number of carriers, resulting from a founder effect, does not correlate with the real prevalence of patients with a diagnosis of FMF, since the detection of a single mutation (heterozygosity) does not help in making the diagnosis. […] In addition to the above countries, FMF is found in North African countries, Greece, Crete, France, Germany, and the US. In most of these countries, the presence of FMF is largely related to robust emigration from Mediterranean countries. Many studies have shown the presence of different severity in FMF according to the country of residence, totally or partially independent of the pathogenicity of MEFV variants and ethnicity. The incidence of amyloidosis is much higher in Turk and Armenian patients living in their country of origin with respect to the same population emigrating to northern Europe or the US. The same phenomenon was also reported in children by the international Eurofever registry, which showed how children living in Western Europe displayed a less severe disease activity independently from their ethnicity. These observations likely reflect the burden of environmental factors (i.e., infections) as possible triggers for a more robust inflammatory response in Mediterranean countries. […] Finally, a milder form of FMF is also present in Japan, with a lower prevalence of abdominal manifestations, a higher median age of onset, and a lower frequency of complications (AA amyloidosis) as compared to Mediterranean patients, probably due to differences in MEFV gene mutations.

• #46 What is familial Mediterranean fever? | UCLA

  https://newsroom.ucla.edu/stories/what-is-familial-mediterranean-fever-genetic-disorder

  The most common of the periodic fevers was officially termed familial Mediterranean fever in 1958. […] Only a few years later, gastroenterologists Dr. Arthur D. Schwabe and Dr. Sherman Mellinkoff established the FMF program at UCLA Health, spurred by the frequency of patients in the ER. […] Their research contributed to using colchicine as a treatment in 1972. […] But it was not until 1997 that the genetic drivers of the disease were uncovered. […] The MEFV gene on chromosome 16 codes for the protein pyrin, which is involved in an inflammatory pathway. […] Grody joined the program 25 years ago after seeing calls for a medical geneticist in the clinic. […] But he soon learned that DNA testing is not essential for diagnosis. […] Instead, he and Getzug find the clues to diagnosis in a detailed patient history, the method used since the programs founding.

• #47 What is familial Mediterranean fever? | UCLA

  https://newsroom.ucla.edu/stories/what-is-familial-mediterranean-fever-genetic-disorder

  These diverse experiences will be compiled into a digital registry of more than 700 patients, reflecting the largest rare-disease cohort in North America. […] The other arm of it is a biobank of blood samples to do some basic research and understand why some patients present in infancy, some not till adulthood why some respond to colchicine and some dont.

• #48 What is familial Mediterranean fever? | UCLA

  https://newsroom.ucla.edu/stories/what-is-familial-mediterranean-fever-genetic-disorder

  These diverse experiences will be compiled into a digital registry of more than 700 patients, reflecting the largest rare-disease cohort in North America. […] The other arm of it is a biobank of blood samples to do some basic research and understand why some patients present in infancy, some not till adulthood why some respond to colchicine and some dont.

• #49 Cancer Incidence in Familial Mediterranean Fever – ACR Meeting Abstracts

  https://acrabstracts.org/abstract/cancer-incidence-in-familial-mediterranean-fever/

  Familial Mediterranean Fever (FMF) is the most common hereditary monogenic fever syndrome characterized by recurrent attacks of fever and polyserositis. […] This study aimed to evaluate the association between FMF and the risk of cancer, by using the cancer-related outcomes of a cohort of Turkish FMF patients and those of the general Turkish population. […] The incidence of cancer was significantly lower in Turkish FMF patients, compared with the Turkish population [SIR 0.34 (95% CI 0.24-0.46), p 0.01]. […] Our findings suggest that Turkish FMF patients have a significantly lower incidence of cancer than the general population of Turkey.

• #50 IgA nephropathy-associated familial Mediterranean fever

  https://nephropathol.com/Article/jnp-26557

  Familial Mediterranean fever is an autosomal recessive autoinflammatory disorder characterized by recurrent episodes of fever, inflammation, and serositis. […] Individuals with Familial Mediterranean fever (FMF) are at an increased risk of developing various renal diseases, comprising IgA nephropathy. […] The mechanism linking this disorder and IgA nephropathy related to the chronic inflammatory state associated with familial Mediterranean fever. […] However, other non-amyloid renal manifestations of familial Mediterranean fever include glomerular diseases like IgA nephropathy and tubulointerstitial nephritis.

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