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

Author(s):  
Hélène Vergneault ◽  
Rim Bourguiba ◽  
Samuel Ardois ◽  
Anael Dumont ◽  
Léa Savey ◽  
...  
2021 ◽  
Vol 30 (2) ◽  
pp. 36-43
Author(s):  
V. Rameev ◽  
A. Simonyan ◽  
M. Bogdanova ◽  
L. Lysenko (Kozlovskaya) ◽  
S. Moiseev

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


2021 ◽  
Vol 10 (16) ◽  
pp. 3511
Author(s):  
Zehra Serap Arici ◽  
Micol Romano ◽  
David Piskin ◽  
Ferhat Guzel ◽  
Sezgin Sahin ◽  
...  

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.


2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Sadi A. Abukhalaf ◽  
Beesan W. Dandis ◽  
Tasnim Za’tari ◽  
Adham M. Amro ◽  
Tareq Z. Alzughayyar ◽  
...  

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.


2011 ◽  
Vol 30 (10) ◽  
pp. 1295-1298 ◽  
Author(s):  
Udi Nussinovitch ◽  
Avi Livneh ◽  
Moshe Nussinovitch ◽  
Benjamin Volovitz ◽  
Ilan Ben-Zvi ◽  
...  

2010 ◽  
Vol 134 (4) ◽  
pp. 532-544 ◽  
Author(s):  
Sait Şen ◽  
Banu Sarsık

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.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 968.1-968
Author(s):  
Z. S. Arici ◽  
M. Romano ◽  
D. Piskin ◽  
F. Guzel ◽  
M. Yilmaz ◽  
...  

Background:Amyloid A (AA) amyloidosis, previously known as secondary or reactive amyloidosis, is a long-recognized severe complication of some chronic inflammatory diseases. The pathogenesis and risk factors for amyloidosis in Familial Mediterranean Fever (FMF) remain partially understood (1). The development of AA amyloidosis is dependent on ethnicity and country of residence (2). In the pre-colchicine era, renal AA-amyloidosis was largely reported patients of Turkish (67%) and Sephardic Jewish ancestry (26.5%) (2,3). Currently it’s well known that the MEFV M694V variant associated with high risk of amyloidosis however, mutations on exon 2, specifically E148Q variant remained controversial.Objectives:To evaluate the E148Q mutation variant and concomitant AA Amyloidosis secondary to FMF after adjusted clinical-demographic characteristics.Methods:Patients were recruited from the renal unit at Epigenetic Health Center outpatient clinic in Turkey between September 2003 and February 2020. Patients who had biopsy confirmed FMF related AA amyloidosis were included the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. The clinical characteristics of FMF patients and medication history were recorded by the physician at the time of registry entry. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. We performed multiple comparisons according to the age of diagnosis, demographic features, disease phenotype, allele frequency, type of mutation and mortality. Statistical analysis was performed with Statistical Package of Social Science (SPSS) for Windows, version 15.0 (SPSS Inc, Chicago, IL).Results:Our registry consists of 195 patients with a diagnosis of AA amyloidosis. Complete information on 169 patients (lost to follow up, n=26) were included. The median age was 36 (19-49) years; male/female ratio was 1.6 (104/65). The median follow-up duration was 15.0 years (4-17 years). There were 101 patients diagnosed with FMF <18 years of age and 68 patients diagnosed ≥18 years of age. All participants developed renal amyloidosis before the age of 32 years. Family history of FMF was documented in 56 patients (33.1%) and family history of amyloidosis was present in 41 patients (24.3%). The three most common clinical symptoms were fever (84,6%), abdominal pain (71.6%) and arthritis (66.9%). During the follow-up, 5 patients started dialysis treatment and 9 patients had kidney transplantation. The most common allele frequency across patients was M694V (60.6%), E148Q (21.4%) and M680I (10.3%). The most frequent mutations were M694V/M694V (63.3%), M694V/E148Q (20.8%) and E148Q/E148Q (15.8%). During the follow up period, 15 patients (10 male, 5 female) died. In those that died, the mutations in 14 had M694V/M694Vand one demonstrated E148Q/E148Q.Conclusion:Patients with FMF related AA amyloidosis have an increased risk for mortality. This study confirmed the association between M694V and FMF-associated AA amyloidosis, which has been reported in many studies. Close clinical follow-up and further evaluation of patients with the E148Q mutation is warranted specifically if residing in FMF endemic areas. The possible relationship between E148Q and AA amyloidosis need to be confirmed in other cohorts.References:[1]Erer B, Demirkaya E, Ozen S, Kallinich T. What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review. Rheumatology international. 2016;36(4):483-7.[2]Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis and rheumatism. 2007;56(5):1706-12.[3]Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J. 1982;150(1):22-6.Disclosure of Interests:None declared


The Clinician ◽  
2018 ◽  
Vol 12 (2) ◽  
pp. 37-42
Author(s):  
S. I. Shchadneva ◽  
E. E. Ustinova ◽  
L. V. Belozertseva ◽  
V. V. Gorbunov ◽  
N. S. Kurbatova

The aimof study was to describe a clinical case of a hereditary disease with autosomal recessive type of inheritance – familial Mediterranean fever (FMF).Materials and methods.Patient A., 19 years old, Armenian, was hospitalized in the Department of rheumatology of the clinical hospital with complaints of periodic temperature rises to 39 °C, paroxysmal pain in the abdomen, ankle and hip joints, legs edema. In anamnesis from 8 months of age there were attacks of 1–2 day abdominal pain in combination with febrile fever; from 2 years there were arthralgia of the ankle joints, followed by knee and hip. Attacks of fever and joint syndrome recurred 3–4 times a year, lasted for 2–3 days, and disappeared spontaneously. Treatment with nonsteroidal anti-inflammatory drugs and small doses of prednisone was carried out. The examination in the hospital revealed nephrotic syndrome without impaired renal function, increasing of erythrocyte sedimentation rate (up to 62 mm/h), C-reactive protein (up to 60 mg/dl), leukocytosis (up to 16.7 × 109/L). The immunological examination revealed no abnormalities. Bacteriological and serological studies have ruled out the possibility of infectious diseases. Electrocardiography, echocardiography, ultrasound of abdomen and kidneys, multispiral computed tomography of kidneys and retroperitoneum, magnetic resonance imaging of the sacroiliac joints, nephrobiopsy were performed.Results.During the examination, a wide differential diagnosis with infectious and rheumatic diseases was carried out. Taking into account the polysyndromicity of clinical manifestations, systemic lupus erythematosus was suggested. An induction course of immunosuppressive therapy was conducted, that was ineffective. The diagnosis of systemic lupus erythematosus was doubtful and to clarify the nature of kidney morphological changes nephrobiopsy was performed that revealed the presence of kidneys AA-amyloidosis. Given these data in conjunction with clinical manifestations, the patient»s nationality, FMF was diagnosed and colchicine 2 mg/day was appointed. It was possible to stop the clinical symptoms of inflammation in FMF, but the nephrotic syndrome due to amyloidosis persists.Conclusion.The presented observation demonstrates the complexity of FMF diagnosis that verified 18 years after the appearance of the first disease symptoms. The diagnosis was helped by the presence of disease clinical manifestations and kidneys morphological study that revealed the development of a serious complication of periodic disease – AA-amyloidosis. Treatment with colchicine allowed to stop the symptoms of periodic disease.


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