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 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.

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 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 Familial Mediterranean Fever Complicated by a Triad of Adrenal Crisis: Amyloid Goiter and Cardiac Amyloidosis

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Sadi A. Abukhalaf ◽  
Beesan W. Dandis ◽  
Tasnim Za’tari ◽  
Adham M. Amro ◽  
Tareq Z. Alzughayyar ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Cardiac Amyloidosis ◽  
Adrenal Crisis ◽  
Common Disease ◽  
High Morbidity ◽  
Aa Amyloidosis ◽  
Mediterranean Populations ◽  
Amyloid Goiter ◽  
Mediterranean Fever

Background. FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare reported condition. We presented a previously unreported triad of adrenal, thyroid, and cardiac amyloidosis secondary to FMF. Presentation of Case. We reported a 23-year-old Palestinian male patient presented with hypotension, vomiting, diarrhea, and abdominal pain. The patient was subsequently diagnosed to have an adrenal crisis with both amyloid goiter and cardiac amyloidosis. Conclusion. It is crucial to recognize the adrenal crisis in patients with AA amyloidosis secondary to FMF who present similarly to acute FMF inflammatory episodes. The adrenal crisis has high morbidity and mortality, especially if not recognized early in the course of the disease.

Discontinuation of colchicine therapy in children with Familial Mediterranean Fever

2021 ◽  
pp. jrheum.201158
Author(s):  
Yonatan Butbul Aviel ◽  
Silman Rawan ◽  
Shafe Fahouma ◽  
Isaiah Wexler ◽  
Yackov Berkund
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Pediatric Patients ◽  
Predictors Of Success ◽  
Successful Termination ◽  
Select Group ◽  
Mediterranean Fever ◽  
Colchicine Therapy

Objective Colchicine has been considered a life-long therapy for Familial Mediterranean fever (FMF). Recent studies describe patients who discontinued colchicine, but data pertaining to predictors of success were not provided. The aims of our study are to describe a cohort of pediatric patients with FMF who discontinued colchicine therapy, and to identify factors predicting successful termination of colchicine. Methods This study describes a cohort of pediatric patients with FMF who discontinued colchicine therapy following a relatively prolonged attack-free period (≥6 month), and identifies factors predicting successful termination. Data collected included demographic, clinical, and laboratory characteristics of children diagnosed with FMF < 16 years who underwent a trial of colchicine discontinuation. Data from patients who successfully ceased colchicine therapy were compared to that of patients who relapsed. Results Of 571 patients with FMF, 59 (10.3%) discontinued colchicine therapy. The average attack-free period before enrollment was 1.4±0.97 years. Follow-up after ceasing colchicine was 5.0±3.05 years during which time 11 (20%) patients had an attack. The most common symptoms were fever (92%) and abdominal pain (84.6%). For those failing discontinuation, colchicine was restarted within 1.3 years (range: 0.3-5.0; median 0.7 years). A longer attack-free period prior to colchicine discontinuation predicted success. Myalgia and arthritis prior to colchicine cessation were more common among children who required renewal of colchicine. Conclusion Cessation of colchicine therapy should be considered following prolonged remission in a select group of patients. Patients with arthritis or myalgia are more likely to have an attack after ceasing colchicine therapy.

Case of familial mediterranean fever presenting with constant abdominal pain

2016 ◽  
Vol 12 (5) ◽  
pp. 299-300
Author(s):  
İhsan Ateş ◽  
Ömer Akca ◽  
İskender Bülbül ◽  
Nisbet Yilmaz
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Mediterranean Fever

scholarly journals A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis

2016 ◽  
Vol 39 (1) ◽  
pp. 72-77
Author(s):  
Chie OGITA ◽  
Kiyoshi MATSUI ◽  
Dai KISIDA ◽  
Mariko KAKUDOU ◽  
Masahide YAZAKI ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Gene Analysis ◽  
Mediterranean Fever ◽  
I Gene

Cisplatin Treatment Triggers Familial Mediterranean Fever Attacks

2003 ◽  
Vol 89 (1) ◽  
pp. 80-81 ◽  
Author(s):  
Elias Toubi ◽  
Ruth Gershoni-Baruch ◽  
Abraham Kuten
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Inflammatory Cytokines ◽  
Tnf Alpha ◽  
Adenocarcinoma Of The Lung ◽  
Mediterranean Fever ◽  
Fever Attacks

A 42-year-old familial Mediterranean fever (FMF) patient who was treated with cisplatin-based chemotherapy for adenocarcinoma of the lung developed severe and frequent attacks of FMF during treatment. Abdominal pain, arthralgia and fever occurred for a few days following each cisplatin cycle. His FMF worsened, the abdominal pain and fever lasted longer and treatment with colchicine was ineffective. It has been hypothesized that the link between cisplatin treatment and FMF attacks lies in an increased production of serotonin, IL-6, IL-1, IL-8 and TNF-alpha. These inflammatory cytokines have been reported to be overproduced during cisplatin treatment and are known to play an important role in FMF relapse. The oncologist should be made aware of the possibility of disease aggravation in FMF patients during cisplatin-based chemotherapy.

Sign in / Sign up

Export Citation Format

Share Document