scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

scholarly journals Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Yunus Ugan ◽  
Atalay Doğru ◽  
Hüseyin Şencan ◽  
Mehmet Şahin ◽  
Şevket Ercan Tunç
Keyword(s):  
Familial Mediterranean Fever ◽  
Polyarteritis Nodosa ◽  
Autosomal Recessive ◽  
Mefv Gene ◽  
Autosomal Recessive Inheritance ◽  
Recurrent Fever ◽  
Autoinflammatory Disorder ◽  
Chromosome 16 ◽  
Mediterranean Fever ◽  
Schonlein Purpura

Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.

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.

Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency

1989 ◽  
Vol 34 (2) ◽  
pp. 168-172 ◽  
Author(s):  
David B. Rogers ◽  
Mordechai Shohat ◽  
Gloria M. Petersen ◽  
Joan Bickal ◽  
Jane Congleton ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Frequency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
High Gene ◽  
Mediterranean Fever

Alka Ptonuria Disorder

2021 ◽  
pp. 364-366
Author(s):  
Bhawan B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Homogentisic Acid ◽  
Dark Urine ◽  
Disease Modifying Therapy ◽  
Collagenous Tissue ◽  
Reduce Life Expectancy ◽  
Recent Developments ◽  
History Of

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in collagenous tissue namely ochronosis and ochronotic osteoarthropathy. Although this condition does not reduce life expectancy, it significantly affects quality of life. The natural history of this condition is becoming better understood, despite gaps in knowledge. Clinical assessment of the condition has also improved along with the development of a potentially disease-modifying therapy. Furthermore, recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis.

scholarly journals Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever

2016 ◽  
pp. bcr2016216941 ◽  
Author(s):  
Nikolaos K Gatselis ◽  
Panagiotis Skendros ◽  
Konstantinos Ritis ◽  
George N Dalekos
Keyword(s):  
Familial Mediterranean Fever ◽  
Liver Involvement ◽  
Severe Liver ◽  
History Of ◽  
Mediterranean Fever

Malignant Peritoneal Mesothelioma in a Hemodialysis Patient with Familial Mediterranean Fever: A Case Report and Literature Review

2008 ◽  
Vol 53 (4) ◽  
pp. 1-3
Author(s):  
E Sengul ◽  
K Yildiz ◽  
Y Topcu ◽  
A Yilmaz
Keyword(s):  
Case Report ◽  
Familial Mediterranean Fever ◽  
Literature Review ◽  
Medical Literature ◽  
Hemodialysis Patient ◽  
Peritoneal Mesothelioma ◽  
Rare Tumor ◽  
Malignant Peritoneal Mesothelioma ◽  
History Of ◽  
Mediterranean Fever

Malignant mesothelioma is a rare tumor. The most common localization of mesothelioma is pleura. It rarely arises from the peritoneum. It has been suggested that familial Mediterranean fever (FMF) may cause the development of peritoneal mesothelioma. We describe a case of malignant peritoneal mesothelioma in a hemodialysis patient with FMF. The patient was a 56 year old female. A history of FMF was present since her childhood. She did not use colchicine and suffered from recurrent ascites. To the best of our knowledge, this is the seventh case of FMF diagnosed as having malignant peritoneal mesothelioma in the medical literature.

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome

2011 ◽  
Vol 8 (5) ◽  
pp. 460-463 ◽  
Author(s):  
Anthony C. Wang ◽  
Joseph J. Gemmete ◽  
Catherine E. Keegan ◽  
Cordelie E. Witt ◽  
Karin M. Muraszko ◽  
...  
Keyword(s):  
Intracranial Aneurysms ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Inheritance Pattern ◽  
Craniofacial Malformation ◽  
Ct Angiogram ◽  
Preoperative Ct ◽  
History Of ◽  
Spontaneous Intracranial Hemorrhage

Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.

Familial Mediterranean Fever in Ashkenazi Jews: The Mild End of the Clinical Spectrum

2009 ◽  
Vol 37 (2) ◽  
pp. 422-425 ◽  
Author(s):  
MERAV LIDAR ◽  
RON KEDEM ◽  
YAACOV BERKUN ◽  
PNINA LANGEVITZ ◽  
AVI LIVNEH
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Onset ◽  
Clinical Spectrum ◽  
Similar Proportion ◽  
Ashkenazi Jewish ◽  
North African ◽  
Ashkenazi Jews ◽  
History Of ◽  
Mediterranean Fever ◽  
Joint Attacks

Objective. To characterize familial Mediterranean fever (FMF) in Ashkenazi patients, a Jewish subgroup in which FMF has rarely been described before.Methods. A retrospective analysis, comparing demographic, clinical, and genetic measures of the cohort of Ashkenazi Jewish patients with FMF (n = 57), followed at the National Center for FMF in Israel, to age and sex matched patients of Iraqi Jewish (n = 62) and North African Jewish (NAJ; n = 61) origin.Results. Age at disease onset and diagnosis was earlier in NAJ than among Ashkenazi and Iraqi patients. Family history of FMF was described by only 30% of Ashkenazi patients as opposed to the majority of Iraqi and NAJ patients (p = 0.001). The frequency of abdominal and febrile attacks was similar among the 3 groups, while chest and joint attacks were far less common in Ashkenazi and Iraqi compared to NAJ patients. A good response to colchicine was noted in a similar proportion of Ashkenazi and Iraqi patients (82–84%) as opposed to only 56% of NAJ patients (p = 0.0001). Proteinuria, renal failure, and amyloidosis were most frequent among the NAJ patients (18, 6.6, and 9.8% compared to 5.3, 0, and 3.5% and 1.6, 0, and 0% in Ashkenazi and Iraqi patients, respectively).Conclusion. Ashkenazi patients with FMF stand at the mildest end of the clinical spectrum of FMF. This is notwithstanding the tendency for amyloidosis, the frequency of which is not trivial and which deserves particular awareness.

scholarly journals Primary hypertrophic osteoarthropathy

2020 ◽  
Vol 58 (5) ◽  
pp. 544-549
Author(s):  
E. L. Trisvetova
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Bone Lesions ◽  
Malignant Neoplasms ◽  
Childhood And Adolescence ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
X Ray

The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence. Differential diagnosis should be carried out with secondary hypertrophic osteoarthropathy, which occurs in 90% of cases and is associated with malignant neoplasms, rheumatic diseases and other diseases. X-ray signs are of great importance to clarify the localization, extent and nature of bone lesions. There is no specific treatment for the disease.

scholarly journals Two Sisters with Colchicine-Resistant form of Familial Mediterranean Fever on the Canakinumab Therapy: Clinical Case

2020 ◽  
Vol 18 (5) ◽  
pp. 362-368
Author(s):  
Elena A. Ligostaeva ◽  
Nadezhda A. Tsurikova ◽  
Irina A. Tsiganok ◽  
Nataliya N. Kobzeva ◽  
Vadim Yu. Avdeenko
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Case ◽  
Resistant Form ◽  
Mediterranean Fever
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