scholarly journals A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic

2003 ◽  
Vol 124A (1) ◽  
pp. 67-73 ◽  
Author(s):  
Anna Aldea ◽  
Josep M. Campistol ◽  
Juan I. Arostegui ◽  
Josefa Rius ◽  
Montserrat Maso ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Dominant ◽  
Inflammatory Disorder ◽  
Aa Amyloidosis ◽  
Colchicine Resistance ◽  
Mediterranean Fever

Thyroid disorders in familial Mediterranean fever: think about AA amyloidosis!

2021 ◽  
Author(s):  
Hélène Vergneault ◽  
Rim Bourguiba ◽  
Samuel Ardois ◽  
Anael Dumont ◽  
Léa Savey ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Thyroid Disorders ◽  
Aa Amyloidosis ◽  
Mediterranean Fever

scholarly journals Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome, Hodgkin's lymphoma,and the familial Mediterranean fever gene

2014 ◽  
Vol 1 (1) ◽  
pp. 37
Author(s):  
Ala Atamna ◽  
Corina Hershkovici ◽  
Avishay Elis
Keyword(s):  
Familial Mediterranean Fever ◽  
Hodgkin’S Lymphoma ◽  
Periodic Fever ◽  
Gene Mutations ◽  
Aphthous Stomatitis ◽  
High Rate ◽  
Hodgkin's Lymphoma ◽  
Inflammatory Disorder ◽  
Mediterranean Fever ◽  
Pfapa Syndrome

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) is a benign, self-limited, auto-inflammatory disorder. The attacks usually start at age 2 to 5 years and cease before the age of 10 years. Affected children grow and develop normally and experience no long-term sequelae. The course of PFAPA syndrome is attenuated by the carrier state of the familial Mediterranean fever (FMF) gene, MEFV. A high rate of MEFV mutations has also been reported in various hemato-lymphoid neoplasms. We describe a 19-year-old woman with PFAPA syndrome in remission who was diagnosed with Hodgkin's lymphoma. Although mutations in the FMF gene were not found in this case, the association of PFAPA syndrome with FMF gene mutations and hematological malignancies is discussed.

scholarly journals Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach

Rheumatology ◽  
2020 ◽  
Author(s):  
Seza Özen ◽  
Erdal Sag ◽  
Eldad Ben-Chetrit ◽  
Marco Gattorno ◽  
Ahmet Gül ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Nominal Group ◽  
Evidence Based ◽  
Delphi Consensus ◽  
Modified Delphi ◽  
Health Authorities ◽  
Colchicine Resistance ◽  
Mediterranean Fever ◽  
Definition Of ◽  
The Impact

Abstract Objectives Colchicine is the main treatment for familial Mediterranean fever (FMF). Although a number of individuals with FMF are intolerant/resistant to colchicine, there is no standard definition of colchicine resistance/intolerance. We developed a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF that may serve as a guide for clinicians and health authorities. Methods A set of statements was identified using a modified-Delphi consensus-based approach. The process involved development of an initial colchicine resistance/intolerance-related questionnaire derived from a systematic literature review. The questionnaire, which was completed by an international panel of 11 adult and pediatric rheumatologists with expertise in FMF, was analysed anonymously. The results informed draft consensus statements that were discussed by a round-table expert panel, using a nominal group technique to agree on the selection and wording of the final statements. Results Consensus among the panel was achieved on 8 core statements defining colchicine resistance/intolerance in patients with FMF. A definition of resistance was agreed upon that included recurrent clinical attacks (average one or more attacks per month over a 3-month period), or persistent laboratory inflammation in between attacks. Other core statements recognize the importance of assessing treatment adherence, and the impact of active disease and intolerance to colchicine on quality of life. Conclusion Based on expert opinion, a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF were identified to help guide clinicians and health authorities in the management of patients with FMF.

scholarly journals Familial Mediterranean fever: diagnostic issues and treatment options

2021 ◽  
Vol 30 (2) ◽  
pp. 36-43
Author(s):  
V. Rameev ◽  
A. Simonyan ◽  
M. Bogdanova ◽  
L. Lysenko (Kozlovskaya) ◽  
S. Moiseev
Keyword(s):  
Risk Factors ◽  
Familial Mediterranean Fever ◽  
Treatment Options ◽  
Aa Amyloidosis ◽  
Mediterranean Fever

To evaluate diagnostic and treatment issues in patients with familial Mediterranean fever (FMF) and risk factors for AA-amyloidosis.

scholarly journals Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever

2021 ◽  
Vol 10 (16) ◽  
pp. 3511
Author(s):  
Zehra Serap Arici ◽  
Micol Romano ◽  
David Piskin ◽  
Ferhat Guzel ◽  
Sezgin Sahin ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Phenotype ◽  
Clinical Manifestations ◽  
Histopathological Diagnosis ◽  
Close Monitoring ◽  
Aa Amyloidosis ◽  
Homozygous Genotype ◽  
Age Of Diagnosis ◽  
Mediterranean Fever

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities.

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.

P-wave dispersion in systemic AA amyloidosis of familial Mediterranean fever

2011 ◽  
Vol 30 (10) ◽  
pp. 1295-1298 ◽  
Author(s):  
Udi Nussinovitch ◽  
Avi Livneh ◽  
Moshe Nussinovitch ◽  
Benjamin Volovitz ◽  
Ilan Ben-Zvi ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Wave Dispersion ◽  
P Wave ◽  
Aa Amyloidosis ◽  
P Wave Dispersion ◽  
Mediterranean Fever

A Proposed Histopathologic Classification, Scoring, and Grading System for Renal Amyloidosis: Standardization of Renal Amyloid Biopsy Report

2010 ◽  
Vol 134 (4) ◽  
pp. 532-544 ◽  
Author(s):  
Sait Şen ◽  
Banu Sarsık
Keyword(s):  
Familial Mediterranean Fever ◽  
Prognostic Score ◽  
Renal Amyloidosis ◽  
Grading System ◽  
Al Amyloidosis ◽  
Pathology Report ◽  
Aa Amyloidosis ◽  
Microscopic Appearance ◽  
Biopsy Report ◽  
Mediterranean Fever

Abstract Context.—A disease associated with amyloid deposits, called amyloidosis, is associated with characteristic electron microscopic appearance, typical x-ray pattern, and specific staining. Renal involvement mainly occurs in AA amyloidosis and AL amyloidosis and usually progresses to renal failure. Objective.—The renal histopathologic changes with amyloidosis comprise a spectrum. Clear relationships between the extent of amyloid deposition and the severity of clinical manifestations have not been demonstrated. Whether there is a lack of clinicopathologic correlation is not clear, but studies have revealed the need for standardization of the renal amyloid biopsy report. With these objectives in mind, we proposed a histopathologic classification, scoring, and grading system. Renal amyloidosis was divided into 6 classes, similar to the classification of systemic lupus erythematosus. Amyloid depositions and other histopathologic lesions were scored. The sum of these scores was termed the renal amyloid prognostic score and was divided into 3 grades. Data Sources.—AA amyloidosis was detected in 90% of cases, mostly related to familial Mediterranean fever. Positive correlations between class I and grade I, class VI and grade III, and class III and grade II were observed. Also, a positive correlation was identified between severity of glomerular amyloid depositions, interstitial fibrosis, and inflammation. Because of the inadequacy of the patients' records and outcomes, different therapy regimes, and etiologies, clinical validation of this study has not been completed. Conclusions.—Standardization of the renal amyloid pathology report might be critical for patients' medication and comparison of outcome and therapeutic trials between different clinics. Because of our AA to AL amyloidosis ratio and the predisposition of familial Mediterranean fever–related AA amyloidosis, there is a need for further international collaborative studies.

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