scholarly journals A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Sevket Ozkaya ◽  
Saliha E. Butun ◽  
Serhat Findik ◽  
Atilla Atici ◽  
Adem Dirican
Keyword(s):  
Abdominal Pain ◽  
Chest Pain ◽  
Pleural Effusion ◽  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Colchicine Treatment ◽  
Pleuritic Chest Pain ◽  
Mediterranean Fever ◽  
Recurrent Pleural Effusion ◽  
Gene Mutation Analysis

The familial Mediterranean fever (FMF), also called recurrent polyserositis, is characterized by reccurrent episodes of serositis at pleura, peritoneum, and synovial membrane and fever. We present a patient with recurrent bilateral pleural effusion due to serositis attacks as a first sign of FMF. A 59-year-old Turkish man suffered from recurrent pleuritic chest pain due to pleural effusion and atelectasis. The etiology was not found, and his symptoms were spontaneously recovered during several weeks. The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L) gene mutation in both our patient and his grandchild. After the colchicine treatment, the attack has not developed. In conclusion, recurrent pleural effusion and pleuritic chest pain may be the first signs of the FMF.

scholarly journals Symptomatic patients with P369S–R408Q mutations: familial Mediterranean fever or mixed auto-inflammatory syndrome?

2019 ◽  
Vol 12 (7) ◽  
pp. e228858
Author(s):  
Kristen Davies ◽  
Bradley Lonergan ◽  
Rikesh Patel ◽  
Marwan Bukhari
Keyword(s):  
Chest Pain ◽  
Familial Mediterranean Fever ◽  
Recurrent Abdominal Pain ◽  
Monozygotic Twin ◽  
Incomplete Penetrance ◽  
Pleuritic Chest Pain ◽  
Asymptomatic Patients ◽  
Mediterranean Fever ◽  
Jewish Descent ◽  
Inflammatory Syndrome

A 51-year-old South African female of Ashkenazi Jewish descent was admitted with acute pleuritic chest pain, shortness of breath, fatigue and fever. She experienced vague abdominal and calf pains for 30 years. Her monozygotic twin was investigated independently for recurrent abdominal pain. Despite initially responding to antibiotics, treating suspected pneumonia, she developed recurrent fevers and pleuritic chest pain. After thorough investigation without significant findings, she re-attended days after discharge with similar symptoms. Familial Mediterranean fever (FMF) was suggested as she met diagnostic criteria and responded to colchicine, though FMF normally presents before 20 years old. Genetic testing showed no pathogenic mutations but heterozygous P369S and R408Q mutations. The significance of these mutations remains unclear, as they are found in asymptomatic patients, suggesting incomplete penetrance. She remains well, with full symptom resolution, but mixed auto-inflammatory syndrome may be a more appropriate diagnosis in symptomatic patients with both P369S and R408Q mutations.

scholarly journals Eosinophilic Gastroenteritis and Familial Mediterranean Fever in a Child With MEFV Gene Mutation

2019 ◽  
Author(s):  
Sanaz Mehrabani ◽  
Mohammad Pornasrollah ◽  
Leila Moslemi
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Histopathological Examination ◽  
Mefv Gene ◽  
Eosinophilic Gastroenteritis ◽  
Inflammatory Disorder ◽  
Medical Sciences ◽  
Exact Etiology ◽  
Mediterranean Fever

Eosinophilic gastroenteritis (EG) is a rare inflammatory disorder affecting both children and adults. The exact etiology of the disease is not clear. A child presented with episodic generalized abdominal pain since a year ago without fever at first. After endoscopic and colonoscopic examinations, histopathological examination showed an increased number of eosinophils and diagnosis of EG was made. After elimination of dairy products from his regimen, abdominal pain attacks was reduced, but he got a fever. Familial Mediterranean Fever (FMF) diagnosis was made by genetic evaluation which showed MEV gene mutation. Symptoms were resolved with the treatment of colchicine which confirmed FMF diagnosis. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2019;57(5):328-331.

scholarly journals Fiebre mediterránea familiar, una causa poco frecuente de dolor abdominal

2020 ◽  
Author(s):  
Leonardo Cuda ◽  
Federico Tielli ◽  
Daniela Orellana ◽  
Juan Pedro Díaz Vélez ◽  
Guadalupe Toledo ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Improvement ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Colchicine Treatment ◽  
Chronic Abdominal Pain ◽  
Important Complication ◽  
Responsible Gene ◽  
Mediterranean Fever

Familial Mediterranean Fever is an inherited autosomal recessive disease characterized by recurrent and brief episodes of fever with serositis, (peritoneum, pleural, pericardial) and abdominal pain. The MEFV is the responsible gene for the disease. Amyloidosis is the most important complication of this disease leading to the main cause of death in this case. Familial mediterranean fever occurs especially within Mediterranean ethnic groups and itis mainly manifested within the first two decades of life. The following is the case of a 32-year-old male patient who consults for chronic abdominal pain, that is partially controlled with mohammedan prayer and with NSAIDs, associated with fever, diarrhea, nausea, and vomiting. After semiological evaluation and interpretation of complementary studies, the Familial mediterranean fever diagnosis was reached, indicating Colchicine treatment with clinical improvement.

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

scholarly journals Ultrasonographic evaluation of femoral cartilage thickness in patients with familial Mediterranean fever

2021 ◽  
Vol 67 (4) ◽  
pp. 416-420
Author(s):  
Ayşe Aydemir Ekim ◽  
Fulya Bakılan ◽  
Emel Gönüllü ◽  
Hatice Hamarat
Keyword(s):  
Familial Mediterranean Fever ◽  
Colchicine Treatment ◽  
Left Knee ◽  
Chronic Arthritis ◽  
Cartilage Thickness ◽  
Femoral Cartilage ◽  
Mediterranean Fever ◽  
Femoral Cartilage Thickness ◽  
The Right ◽  
Femoral Condyles

Objectives: This study aims to determine femoral cartilage thickness using ultrasonography in familial Mediterranean fever (FMF). Patients and methods: A total of 45 patients (16 males, 29 females; mean age: 38.5±9.1 years; range, 24 to 49 years) with the diagnosis of FMF and 31 healthy individuals (6 males, 25 females; mean age: 37.0±8.7 years; range, 25 to 47 years) between January 2016 and July 2016 were included in this study. Clinical data and demographic characteristics of the patients were recorded. All FMF cases in the study were in remission with colchicine treatment. The thickness of femoral cartilage in both knees were evaluated using ultrasonography. Three measurements (mid-point) were taken from both knees (at the medial/lateral femoral condyles and intercondylar area). Results: Ultrasonographical measurements revealed that cartilage measurements of FMF patients were significantly thinner at both the medial/lateral femoral condyles and intercondylar area on the right knee and at the medial/lateral femoral condyles on the left knee (p<0.001). The cartilage measurements in FMF patients were significantly thinner at the intercondylar area on left knee, compared to those in controls (p=0.023). Conclusion: Our study showed decreased femoral cartilage thickness in FMF patients. These findings indicate that even if these patients do not have an attack, they may have subacute and chronic arthritis in their joints, and their femoral cartilage thickness can be affected.

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