Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF.
Abdominal Pain ; Colchicine ; Diarrhea ; Familial Mediterranean Fever ; Fever ; Hemorrhage ; Hereditary Autoinflammatory Diseases ; Heterozygote ; Humans

Familial Mediterranean fever (FMF) is a chronic autoinflammatory condition characterized by fever attacks and recurrent polyserositis. Subclinical inflammation that persists during attack-free periods can result in oxidative stress (OS) damage. Thiol groups bind to reactive oxygen radicals and protect cells and tissues from OS damage. The aim of this study was to investigate the relationship between thiol-disulfide balance and colchicine resistance in FMF patients during an attack or attack-free period. A newly developed spectrophotometric method was used to measure native thiol (NT) and disulfide (DS) levels in FMF patients and an age-sex matched group of healthy controls. NT and DS levels were compared in FMF patients 1) with vs. without colchicine resistance; and 2) during an attack (FMF-AP) vs. attack-free period (FMF-AFP). A total of 118 FMF patients and 60 healthy controls were studied. NT (P < 0.001) and total thiol (TT) (P < 0.001) levels in FMF patients were significantly lower compared to healthy controls. NT (P = 0.030) and TT (P = 0.010) levels of FMF-AP patients were significantly lower than that of FMF-AFP patients. FMF-AP patients had significantly higher DS levels than FMF-AFP patients (P = 0.039). Compared to FMF patients without colchicine resistance, elevated levels of DS (P = 0.019) but not NT (P = 0.620) and TT (P = 0.718) were found in those with colchicine resistance. Thiol-disulfide homeostasis is altered in FMF patients during an attack period and this imbalance may be associated with colchicine resistance.
Colchicine* ; Familial Mediterranean Fever* ; Fever ; Homeostasis ; Humans ; Inflammation ; Methods ; Oxidative Stress ; Reactive Oxygen Species

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.
Child ; Familial Mediterranean Fever ; Female ; Fever/etiology* ; Genotype ; Hereditary Autoinflammatory Diseases ; Humans ; Male ; Retrospective Studies

A 47-year-old woman ingested about 12 mg of colchicine with suicidal intent. Colchicine, a highly poisonous alkaloid, is a commonly used treatment for gout, Bechet's disease, and familial Mediterranean fever. Despite the knowledge of its side effects, the risk of a significant overdose is under-appreciated. She suffered from acute multisystem toxicity, including gastrointestinal disorders, bone marrow suppression, alopecia, and probable pancreatitis, but she ultimately recovered with supportive therapy. We report a case of acute colchicine toxicity from a single overdose with a review of the literature.
Alopecia ; Bone Marrow ; Colchicine ; Familial Mediterranean Fever ; Female ; Gastroenteritis ; Gout ; Humans ; Middle Aged ; Pancreatitis

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.
Amyloidosis/*diagnosis ; Child ; Familial Mediterranean Fever/*diagnosis ; Humans ; Kidney Diseases/*diagnosis ; Korea ; Male

Different studies have demonstrated changes in chitotriosidase (ChT) activity and concentrations in multiple diseases. However, changes in ChT activity and concentrations have not been concurrently evaluated in patients with Familial Mediterranean Fever (FMF). In this study, we analyzed the changes in serum ChT activity and concentrations in patients with FMF. The study included a total of 80 patients with FMF and 80 healthy controls. ChT enzyme activity and concentrations were measured and then compared between the groups. ChT activity was measured by using fluorometric ELISA and ChT concentrations were measured by using colorimetric ELISA methods. The median ChT activity was 10.00 (6.00–15.00) nmol/mL/hr in the patients and 14.00 (6.25–20.75) nmol/mL/hr in the controls. There was a statistically significant difference in the ChT activity between the controls and patients (P = 0.027). The median ChT concentrations were 65.40 (46.20–84.92) pg/mL and 125.00 (75.72–143.95) pg/mL in the patients and controls, respectively (P < 0.001), which were expressed as median percentiles (25th–75th). Additionally, we found no correlation between C-reactive protein and ChT activity (P = 0.978, r = 0.003) and concentrations (P = 0.446, r = −0.87). Serum ChT enzyme activity and concentrations may not be considered as a biomarker in FMF patients taking colchicine. New studies are needed to evaluate the changes of enzyme activity and concentration in colchicine-negative patients.
C-Reactive Protein ; Colchicine ; Enzyme-Linked Immunosorbent Assay ; Familial Mediterranean Fever* ; Humans

Familial Mediterranean fever (FMF) is an autosomal recessive disease. Although the possibility of multiple immunologic mechanisms have been studied, the actual mechanism is still unresolved. Forty-one patients with FMF (24 males and 17 females with a mean age and disease duration of 17.8 +/- 4.1 and 4.7 +/- 2.3 years, respectively) and 14 healthy controls (10 males and 4 females with a mean age 23.2 +/- 5.1) were involved in the study. A phagotest was studied in both the patients and control groups with a FACScalibur Flow. All patients were in the acute stages of the disease and had not undergone colchicine treatment for 2 months. The percentage blood phagocytic activity of both granulocytes and monocytes were 84.23 +/- 8.76 and 67.28 +/- 10.15 in the patient group and 94.68 +/- 3.24 and 76.23 +/- 5.7 in the control group, respectively. There was no statistically significant difference in the percentage of phagocytic activity of the granulocytes and monocytes between the FMF patients and healthy controls (p > 0.05 and p > 0.05, respectively).
Adolescence ; Adult ; Chemotaxis, Leukocyte ; Familial Mediterranean Fever/immunology* ; Female ; Human ; Male ; Monocytes/immunology ; Neutrophils/immunology ; Phagocytosis*

OBJECTIVE: This study explored the correlations between the use of complementary and integrative therapies (CITs) and symptoms among Turkish patients with familial Mediterranean fever (FMF). METHODS: This is a cross-sectional and descriptive study. The study was conducted with 1119 FMF patients who were registered to the social networking site for Behcet's and the FMF Patients Association (Befemder) in Turkey, between January 2018 and February 2019. Data were collected using an online survey, for which a three-part questionnaire was created using a Google form. Descriptive statistics, chi-square test and logistic regression analysis were used to analyze the data. RESULTS: It was determined that 53.2% of the individuals who participated in the research used various forms of CITs and that 32.8% used vitamin and mineral supplements (calcium, iron, and vitamin B12, C and D), 25.0% used nutritional supplements (fish oil and honey), and 24.6% used oral herbs (ginger, turmeric, green tea and rosemary) and mind-body methods (relaxation, respiration exercise and meditation). It was determined that the percentage of participants that used CITs was higher among women (odds ratio [OR] = 1.825; 95% confidence interval [CI] 1.421-2.344), those with joint pain (OR = 1.385; 95% CI 1.047-1.832), those with difficulty breathing (OR = 1.323; 95% CI 1.031-1.697), those with gastrointestinal symptoms (OR = 1.405; 95% CI 1.089-1.814) and those who had a family member with FMF (OR = 1.437; 95% CI 1.115-1.851). CONCLUSION More than half of the individuals used at least one type of CIT for symptom control.
Behcet Syndrome ; Cross-Sectional Studies ; Familial Mediterranean Fever/therapy* ; Female ; Humans ; Surveys and Questionnaires ; Turkey

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient’s symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.
Colchicine ; Diagnosis ; Exons ; Familial Mediterranean Fever* ; Fever of Unknown Origin* ; Fever* ; Genotype ; Humans ; Immune System ; Korea* ; Mass Screening ; Peritonitis ; Serositis

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.
Abdominal Pain ; Adult ; Appendectomy ; Chromosomes, Human, Pair 16 ; Colchicine ; Familial Mediterranean Fever* ; Female ; Fever ; Humans ; Korea ; Laparotomy ; Mediterranean Sea ; Point Mutation ; Pregnancy* ; Serositis ; Vomiting