scholarly journals Gastrointestinal Amyloidosis in Children with Familial Mediterranean Fever Disease and Anorectal Manometry Results

2020 ◽  
Vol 30 (5) ◽  
Author(s):  
Ali Ihsan Anadolulu ◽  
Cigdem Ulukaya Durakbasa ◽  
Muferret Erguven ◽  
Itır Ebru Zemheri ◽  
Gonca Gercel
Keyword(s):  
Familial Mediterranean Fever ◽  
Anorectal Manometry ◽  
Rectal Mucosa ◽  
Amyloid Deposition ◽  
Predisposing Factors ◽  
Homozygous Mutation ◽  
Functional Abdominal Pain ◽  
Number Of Patients ◽  
Rome Iii ◽  
Mediterranean Fever

Objectives: The aim of this study was to evaluate the effect of amyloid deposition in colon mucosa on the results of anorectal manometry test and the use of ROME III questionnaire in patients with Familial Mediterranean Fever (FMF). Methods: The files of patients diagnosed with FMF were scanned to evaluate the patients at risk for amyloid deposition. Predisposing factors were identified. The patients were sampled using anorectal manometry test, Rome III questionnaire and the rectal mucosa suction biopsy and the test results were compared. Results: 17 (63%) of the patients were female and 10 (37%) were male. The mean age was 12.15 ± 2.40 years. The number of patients with amyloid deposition in the rectal mucosa sample was 2 (7.4%). Both of these patients had regularly used colchicine. Amyloid deposition was found to be high in patients with M694V homozygous mutation (P = 0.05). According to the Rome III questionnaire, findings suggestive of irritable bowel syndrome were found in 5 patients and abdominal migraine was found in 3 patients. However, no statistical difference was found when the results of the Rome III questionnaire were compared with the results obtained from the anorectal manometry test (P > 0.05). Conclusions: Amyloidosis can be seen due to various environmental factors, regardless of age, even when colchicine is regularly used. Anorectal manometry is an easy to perform test, helping diagnosis in this patient group. Although it has been shown that in patients with predisposing factors for amyloid deposition RAIR can be detected at lower pressures in anorectal manometry, the clinical significance of this finding is unclear. Since the Rome III questionnaire showed findings consistent with functional abdominal pain disease in one third of the patients, independent of the presence of FMF, it was found that the application of this questionnaire in patients with FMF could be misleading.

scholarly journals Evaluation of Gastrointestinal Functions in Children with Familial Mediterranean Fever Disease

2020 ◽  
Author(s):  
Ali İhsan Anadolulu ◽  
Çiğdem Ulukaya Durakbaşa ◽  
müferret ergüven ◽  
ıtır ebru zemheri ◽  
gonca gerçel
Keyword(s):  
Familial Mediterranean Fever ◽  
Anorectal Manometry ◽  
Rectal Mucosa ◽  
Amyloid Deposition ◽  
Predisposing Factors ◽  
Homozygous Mutation ◽  
Functional Abdominal Pain ◽  
Number Of Patients ◽  
Rome Iii ◽  
Mediterranean Fever

Abstract Background The aim of this study was to evaluate the effect of amyloid deposition in colon mucosa on the results of anorectal manometry test and the use of ROME III questionnaire in patients with Familial Mediterranean Fever (FMF). Methods The files of patients diagnosed with FMF were scanned to evaluate the patients at risk for amyloid deposition. Predisposing factors were identified. The patients were sampled using anorectal manometry test, Rome III questionnaire and the rectal mucosa suction biopsy and the test results were compared. Results 17 of the patients were female (63%) and 10 were male (37%). The mean age was 12.15 ± 2.40 years. The number of patients with amyloid deposition in the rectal mucosa sample was 2 (7.4%). Both patients regularly used colchicine. Amyloid deposition was found to be high in patients with M694V homozygous mutation (p <0.028). Patients with high proteinuria levels had higher FMF history in the family (p <0.046). It was found that patients with predisposing factors required lower volume for rectoanal inhibitory reflex (RAIR) detection (p <0.037). According to the Rome III questionnaire, findings suggestive of irritable bowel syndrome was found in 5 patients and abdominal migraine was found in 3 patients. However, no statistical difference was found when the results of the Rome III questionnaire were compared with the results obtained from the anorectal manometry test (p> 0.05). Conclusions Amyloidosis can be seen due to various environmental factors, regardless of age, even when colchicine is regularly used. Anorectal manometry is an easy to perform test, helping diagnosis in this patient group. Although it has been shown that in patients with predisposing factors for amyloid deposition RAIR can be detected at lower pressures in anorectal manometry, the clinical significance of this finding is unclear. Since the Rome III questionnaire showed findings consistent with functional abdominal pain disease in one third of the patients, independent of the presence of FMF, it was found that the application of this questionnaire in patients with FMF could be misleading.

scholarly journals Familial Mediterranean Fever: an unusual cause of liver disease

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Maria Cristina Maggio ◽  
Maria Castiglia ◽  
Giovanni Corsello
Keyword(s):  
Abdominal Pain ◽  
Liver Disease ◽  
Familial Mediterranean Fever ◽  
Serum Amyloid A ◽  
Mefv Gene ◽  
Serum Amyloid ◽  
Aphthous Stomatitis ◽  
Homozygous Mutation ◽  
Amyloid A ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean Fever is an autoinflammatory disease typically expressed with recurrent attacks of fever, serositis, aphthous stomatitis, rash. Only a few reports describe the association with hepatic involvement. Case presentation We describe the clinical case of a child affected, since the age of 1 year, by recurrent fever, aphthous stomatitis, rash, arthralgia, associated with abdominal pain, vomiting, lymphadenopathy. The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented. A partial control of attacks was obtained with colchicine. The child continued to manifest only recurrent episodes of abdominal pain without fever, however serum amyloid A persisted high, in association with enhanced levels of CRP, AST and ALT (1.5 x n.v.). The dosage of colchicine was increased step by step and the patient achieved a better control of symptoms and biochemical parameters. However, the patient frequently needed an increase in the dose of colchicine, suggesting the possible usefulness of anti-interleukin-1 beta treatment. Conclusions The unusual presentation of Familial Mediterranean Fever with liver disease suggests the role of inflammasome in hepatic inflammation. Colchicine controls systemic inflammation in most of the patients; however, subclinical inflammation can persist in some of them and can manifest with increased levels of CRP, ESR, serum amyloid A also in attack-free intervals.

Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain

2001 ◽  
Vol 138 (5) ◽  
pp. 759-762 ◽  
Author(s):  
Riva Brik ◽  
Dianna Litmanovitz ◽  
Drora Berkowitz ◽  
Raanan Shamir ◽  
Eldad Rosenthal ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Functional Abdominal Pain ◽  
Mediterranean Fever

scholarly journals Cardiovascular Sequelae and Genetics of Familial Mediterranean Fever: A Literature Review

Pulse ◽  
2021 ◽  
pp. 1-8
Author(s):  
Jahanzeb Malik ◽  
Asma Shabbir ◽  
Atif Nazir
Keyword(s):  
Familial Mediterranean Fever ◽  
Case Reports ◽  
Subclinical Atherosclerosis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Primary Treatment ◽  
Amyloid Deposition ◽  
The Body ◽  
Atherosclerotic Cardiovascular Disease ◽  
Mediterranean Fever

<b><i>Introduction:</i></b> Familial Mediterranean fever (FMF) is an autoinflammatory fever syndrome distinguished by recurrent attacks of spontaneous peritonitis, pleuritis, fever, and arthritis. It is specifically seen in the ethnic groups of Mediterranean origin, but sporadic cases have been reported in Eastern Europe and America due to migrations. There is a number of cardiac manifestations associated with FMF. <b><i>Methods:</i></b> Using PubMed as the search engine, the literature search was done for articles published between 1958 and 2020. To summarize the body of available evidence, a scoping review was carried out to find relevant articles and case reports in patients of FMF with cardiovascular manifestations. <b><i>Results:</i></b> In the literature, there is a number of mechanisms explaining the cause of cardiac involvement in FMF, including the subclinical inflammation and secondary (AA) amyloid deposition in the vessels and the myocardium. There is a variable and often spurious course of these manifestations and it can be associated with a poor prognosis such as an acute myocardial infarction. In FMF patients, polyarteritis nodosa and Henoch-Schönlein purpura are seen more significantly as compared to the general population with increased frequency of mutations in Mediterranean fever (MEFV) gene. Through unclear mechanisms, Behçet’s disease is associated with MEFV gene mutations and shares vascular manifestations with FMF. There is an interplay of IL-1 and MEFV gene, which impart an important role in inflammatory attacks of FMF. There is an intima-media thickening of blood vessels AA to persistent inflammation which can lead to atherosclerotic plaque formation resulting in atherosclerotic cardiovascular disease. <b><i>Conclusion:</i></b> FMF and its associated cardiovascular diseases are interlinked to 2 main mechanisms: subclinical atherosclerosis and amyloid deposition, and colchicine is the primary treatment of patients with FMF which shows the regression of amyloid deposits and prevents cardiovascular sequelae.

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

Biologia ◽  
2009 ◽  
Vol 64 (2) ◽  
Author(s):  
Binnur Koksal ◽  
Naim Nur ◽  
Musa Sari ◽  
Ferhan Candan ◽  
Mursit Acemoglu ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mefv Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Mefv Mutations ◽  
Wide Range ◽  
Mediterranean Fever

AbstractFamilial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

Diffuse amyloid deposition in thyroid gland: a cause for concern in familial Mediterranean fever

Amyloid ◽  
2012 ◽  
Vol 19 (3) ◽  
pp. 161-162 ◽  
Author(s):  
Özlem Turhan İyidir ◽  
Mustafa Altay ◽  
Ceyla Konca Degertekin ◽  
Alev Altınova ◽  
Ayhan Karakoç ◽  
...  
Keyword(s):  
Thyroid Gland ◽  
Familial Mediterranean Fever ◽  
Amyloid Deposition ◽  
Mediterranean Fever

scholarly journals POS1350 FAMILIAL MEDITERRANEAN FEVER DURING PREGNANCY: A 26 CASE SERIES WITH 38 PREGNANCIES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 957.2-957
Author(s):  
Y. Karabulut
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Features ◽  
First Trimester ◽  
Reproductive Age ◽  
Homozygous Mutation ◽  
Attack Frequency ◽  
Normal Delivery ◽  
Genetic Characteristics ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent attacks with autosomal recessive inheritance. FMF usually occurs in young age; most patients (90%) begin to suffer from their first attack before 20 years of age. Pregnancy can occur frequently during the course of the disease, as women of reproductive age are affected by the disease.Objectives:In this study, it was aimed to retrospectively examine the demographic, genetic, and clinical features (frequency of attacks during pregnancy, duration of attacks, treatment of attacks) of 26 cases who were followed up with a diagnosis of FMF in the last five years and experienced pregnancy.Methods:A total of twenty-six female FMF cases experienced pregnancy and diagnosed or followed up in our rheumatology center between 2015-2020 were included in the study. All patients were diagnosed according to Tel-Heshomer criteria. All data and follow-up visit records of the patients were retrospectively recorded by the rheumatologist. Patients were followed up by an obstetrician working in the same center during pregnancy. The demographic and genetic characteristics of the patients, the treatment used, the duration and characteristics of the attack during pregnancy, and the treatment they received during the attack were recorded retrospectively. Data processing and analysis conducted with SPSS 22 for Windows.Results:During the follow-up period, a total of 38 pregnancies were observed in 26 female cases. When the genetic mutation tests of all patients were examined, 61% were M694, 15% were V726, 11% were M680I positive and compound mutation was detected in 42% of the patients. The mean age of the patients was 30±7.8, the disease duration was 9.8± 5.4 years, the follow-up period was 38±14 months, the attack frequency during pregnancy was 3.6± 1.7 and the attack duration was 14± 9.8 hours. Considering the clinical features, fever was seen in 92.3%, abdominal pain 96.1%, chest pain 88.4%, arthritis 11.5% and other symptoms seen in 26% during attacks of pregnant FMF patients. All patients used 1 gram of colchicine regularly throughout pregnancy. Steroids were used in 11.5% of patients and non-steroid anti-inflammatory drugs in 53.8% of patients during the attack. Anakinra was used in 11.5% of the cases except for the first trimester following a written consent obtained from the patients.In 10.5% of 38 pregnancies, spontaneous abortion was observed in the early period, 7.8% of pregnancies resulted in preterm delivery before 32 weeks. In addition, 81.5% of pregnancy completed the planned period and resulted in a healthy birth. Cesarean section was performed in 4 patients and normal delivery procedure in 27 patients. Major malformation-anomaly was not observed in any baby. When patients using colchicine (73%) irregularly and less than 1 gram (26.9%) before pregnancy were compared in terms of attack frequency and duration, the group using regular medication had significantly fewer and shorter attacks (p<0.05).Three colchicine resistant patients with M694 homozygous mutation became pregnant under anakinra treatment. A total of five pregnancies were followed in three cases. No medication was used in these patients in the first trimester. As of the second trimester, 100mg/day for 3 days of anakinra was administered in these patients after obtaining an informed consent. In this patient group, no obstetric problem was observed during and after pregnancy, and healthy deliveries were realized.Conclusion:Pregnancy is common in FMF patients of reproductive age. Disease and relapse treatment during pregnancy is still a problem due to the limited number of medications that can be used for treatment. Further studies required to verify safety of Anakinra in refractory FMF cases. There is a need to develop options for the prevention and treatment of attacks during pregnancy.Disclosure of Interests:None declared

Expression of ASC in Renal Tissues of Familial Mediterranean Fever Patients with Amyloidosis: Postulating a Role for ASC in AA Type Amyloid Deposition

2008 ◽  
Vol 233 (11) ◽  
pp. 1324-1333 ◽  
Author(s):  
Banu Balci-Peynircioglu ◽  
Andrea L. Waite ◽  
Philip Schaner ◽  
Zihni Ekim Taskiran ◽  
Neil Richards ◽  
...  
Keyword(s):  
Cell Death ◽  
Familial Mediterranean Fever ◽  
Extracellular Space ◽  
Mefv Gene ◽  
Protein Product ◽  
Amyloid Deposition ◽  
Microtubule Network ◽  
Inflammatory Processes ◽  
Mediterranean Fever ◽  
Dying Cells

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever and serositis; in some cases, ensuing amyloidosis results in kidney damage. Treatment with colchicine reduces the frequency and severity of FMF attacks and prevents amyloidosis, although the mechanisms behind these effects are unknown. Pyrin, the protein product of the MEFV gene, interacts with ASC, a key molecule in apoptotic and inflammatory processes. ASC forms intracellular speck-like aggregates that presage cell death. Here we show that cell death after ASC speck formation is much slower in nonmyeloid cells than in myeloid cells. Additionally, we demonstrate that colchicine prevents speck formation and show that specks can survive in the extracellular space after cell death. Because we also found that ASC is expressed in renal glomeruli of patients with FMF but not in those of control patients, we posit that high local ASC expression may result in speck formation and that specks from dying cells may persist in the extracellular space where they have the potential (perhaps in association with pyrin) to nucleate amyloid. The fact that speck formation requires an intact microtubule network as shown here could potentially account for the ability of prophylactic colchicine to prevent or reverse amyloidosis in patients with FMF.

scholarly journals The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

2017 ◽  
Vol 5 (4) ◽  
pp. 1388 ◽  
Author(s):  
Fahmy T. Ali ◽  
Mostafa M. Elhady ◽  
Hanan H. Abbas ◽  
AbdAllah Y. Mandouh
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Clinical Criteria ◽  
Egyptian Patients ◽  
Mediterranean Fever ◽  
The Mediterranean ◽  
Severity Of The Disease

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting subjects of the Mediterranean origin. It is an auto-inflammatory periodic disorder that is caused by mutations in the Mediterranean fever gene (MEFV) located on chromosome 16.Methods: The current study was designed to assess the prevalence and frequency of different MEFV gene mutations among 104 FMF clinically diagnosed Egyptian patients and to evaluate the change extent in the values of some biochemical markers (ESR, CRP, Fibrinogen-C, SAA and IL1) in different participants with different FMF severity scores.Results: According to allele status 28 patients (27%) were homozygous mutation carriers, 38 (36.5%) were with compound heterozygous mutations and 38 (36.5%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694I, E148Q, V726A, M680I, and M694V accounted for 28.1%, 26.8%, 16.9%, and 11.3% of mutations respectively. The R761H and P369S mutations were rarely encountered mutations (1.4%). The clinical features with M694I were associated with more severe clinical course. There is a drastic elevation in the levels of estimated parameters as their levels were increased as long as the severity of the disease increased.Conclusions: The diagnosis of FMF cannot be performed on the basis of genetic testing or clinical criteria alone. So, we recommended the combination between clinical and molecular profiling for FMF diagnosis and scoring.

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