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 Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Gonca Keskindemirci ◽  
Nuray Aktay Ayaz ◽  
Esin Aldemir ◽  
Çiğdem Aydoğmuş ◽  
Gönül Aydoğan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Phase ◽  
Acute Phase Response ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Phase Response ◽  
Recurrent Fever ◽  
Ankle Joints ◽  
Mediterranean Fever ◽  
Homozygous Mutations

Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.

scholarly journals Familial Mediterranean Fever

2014 ◽  
Vol 57 (3) ◽  
pp. 97-104 ◽  
Author(s):  
Adem Kucuk ◽  
Ilknur Albayrak Gezer ◽  
Ramazan Ucar ◽  
Ali Yavuz Karahan
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Evaluation ◽  
Mediterranean Basin ◽  
Autosomal Recessive ◽  
Mefv Gene ◽  
Genetic Mutation ◽  
Inherited Disease ◽  
Chromosome 16 ◽  
Important Complication ◽  
Mediterranean Fever

Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.

scholarly journals A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Pejman Rohani ◽  
Mehri Najafi Sani ◽  
Mitra Ahmadi ◽  
Vahid Ziaee
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Eosinophilic Esophagitis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
High Power Field ◽  
Case Presentation ◽  
History Of ◽  
Mediterranean Fever ◽  
Poor Weight Gain

Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient’s parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously.

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 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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