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Results for “Familial Mediterranean fever”

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At least 19 recordsLinked to original sources
PubMed1978

Long-term colchicine therapy of familial Mediterranean fever.

Familial Mediterranean fever is a disorder characterized by recurrent fever and polyserositis. Continuous prophylactic colchicine therapy has been effective in suppressing attacks in affected adults. From 30 children with FMF, 14 were selected for colchicine therapy. Eight children continued prophylactic colchicine therapy for 29 months (mean) and experienced a marked decrease in the frequency of attacks. Six other children did not comply with the treatment regimen. Although no deleterious side effects were noted, the safety of long-term colchicine administration in childhood is unknown.

Adolescent↗
PubMed1978

Unusual immunologic findings in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an inherited disease of unknown etiology. We report a case in which, during an acute febrile attack, rheumatoid factor and immunoglobulin levels rose, and the levels of complement components fell. The level of urinary fibrinogen degradation products also increased, and all results of tests returned to normal at the end of the acute attack. This suggests that an immunologic phenomenon may play a substantial role in the etiology of FMF.

Adult↗
PubMed2026

Targeted Epigenetic Silencing of Jumonji Domain-Containing Protein 3 Alleviates Nuclear Factor-Kappa B-Mediated Inflammation in Familial Mediterranean Fever.

BACKGROUND: Familial Mediterranean fever (FMF) is an inherited autoinflammatory condition caused by variants in the MEFV gene encoding pyrin, the essential component of the NLRP3/NF-κB complex of inflammasomes. Deregulation of nuclear factor-kappa B (NF-κB), a key proinflammatory mediator, leads to chronic inflammation in autoinflammatory/autoimmune diseases. Epigenetic modulation offers a new approach to regulate inflammasome activity, with Jumonji domain-containing protein 3 (JMJD3) being a promising target for managing inflammatory illnesses. GSK-J4 is a selective inhibitor of JMJD3, restricting pro-inflammatory cytokines and inflammation. AIM: Our research aimed to elucidate the role of JMJD3 and the NF-κB-JMJD3 signaling pathways in regulating inflammation in an in vitro model, and to investigate GSK-J4's effect in inhibiting inflammasome activation in primed peripheral blood mononuclear cells (PBMCs) isolated from FMF cases. METHODS: PBMCs were cultured and primed with LPS, and then treated with GSK-J4. JMJD3 knockdown was achieved using siRNA interference. Cellular inflammatory dynamics were assessed by Western blotting (WB) and ELISA. The qRT-PCR was used for gene expression quantification. Untreated cells served as a negative control. RESULTS: Our results showed significantly downregulated gene expression of NF-κB, NLRP3, and inflammatory cytokines in GSK-J4-treated cells compared to untreated cells, as confirmed by ELISA. WB reported a reduction of NF-κB in induced cells following GSK-J4 treatment. Knocking down JMJD3 also showed decreased levels of JMJD3, NF-κB, and inflammatory cytokines, indicating its proinflammatory role. CONCLUSION: The study showed that selective inhibition or silencing of JMJD3 significantly suppressed the inflammasome in FMF cases, suggesting its role as a therapeutic target for alleviating inflammation in various autoinflammatory diseases.

Humans↗
PubMed1978

HLA-B27-negative sacroiliitis: a manifestation of familial Mediterranean fever in childhood.

Familial Mediterranean fever is a polysystemic disease seen most frequently in persons of Mediterranean ancestry. Arthritis is one of the common manifestations. Both symptomatic and asymptomatic sacroiliitis have been reported in adults. We report on two children with familial Mediterranean fever with radiographic abnormalities similar to those described in adults. Although sacroiliitis is strongly correlated with the presence of HLA-B27 in most arthropathies, these children were HLA-B27-negative. The diagnosis of familial Mediterranean fever was delayed in both patients because the association of sacroiliitis with familial Mediterranean fever in childhood was not recognized.

Arthritis↗
PubMedDate not supplied

Effect of prophylactic colchicine therapy on leukocyte function in patients with familial Mediterranean fever.

Patients with familial Mediterranean fever (FMF) who were part of a double-blind trial of daily colchicine as prophylaxis for their disease had leukocyte functions studied while receiving colchicine or placebo. Leukocytes taken from these patients while on prophylactic doses of colchicine produced normal quantities of leukocytic pyrogen, ingested bacteria normally, and migrated normally in chemotatic chambers. In addition these patients had normal numbers of circulating T and B lymphocytes as well as normal blastogenic reponses of their peripheral lymphocytes to mitogenic stimuli. The patients on colchicine, however, had significantly fewer neutrophils and monocytes accumulating at skin-window sites 24 hours after the initial abrasion. Because the early phase of the skin-window response was normal in these patients, the decreased late response may be related to a failure to amplify the initial inflammatory reaction. The reduced capacity to generate a normal inflammatory response may account for the failure of these patients to develop full attacks while taking colchicine.

Cell Migration Inhibition↗
PubMed1977

Efficacy of intermittent colchicine therapy in familial Mediterranean fever.

Nine patients with familial Mediterranean fever (FMF) were admitted to a controlled, double-blind trial to determine if there are patients with this disease who are able to abort their acute episodes of pain and fever with short courses of colchicine taken at the onset of attacks. Five patients completed their treatment assignments, and colchicine was significantly effective in aborting the attacks of three but was ineffective in two. The remaining four patients could not be assessed because of insufficient numbers of courses. During the 10 months of the trial, 28 courses of colchicine and 31 of placebo were taken during the early stages of FMF attacks. Twenty-one (75%) colchicine courses were followed by attacks considered to have been aborted, compared to only three (10%) placebo courses. This trial shows that patients can recognize the prodrome of their FMF attacks and that some patients can consistently abort their attacks with short courses of colchicine taken at the very onset of symptoms.

Adolescent↗
PubMed1977

Amyloid deposition in a renal transplant in familial Mediterranean fever.

A patient with familial Mediterranean fever and amyloidosis who received a cadaver renal transplant 6 1/2 years ago was studied to determine the relation of the serum precursor of secondary amyloid (SAA) to the clinical course and to the deposition of amyloid in the transplant. Amyloid fibrils extracted from the patient's kidneys contained protein AA as a major constituent, which identified the amyloid as secondary. Protein AA antiserum was used in an indirect immunofluorescent technique to stain amyloid deposits in sections of the original kidney. A renal biopsy at 2 years showed no amyloid, but a renal biopsy at 4 years showed amyloid. Serum levels of SAA from 3 years before transplant to 6 years after transplant were elevated throughout most of the course.

Adult↗
PubMed1978

Familial Mediterranean fever. A case report.

A case of familial Mediterranean fever in a young girl presented typical diagnostic dilemmas. Although intermittent proteinuria was noted, a rectal biopsy specimen failed to demonstrate the presence of amyloidosis. Treatment consisted of supportive therapy and colchicine, to which she responded. In a cosmopolitan population, familial Mediterranean fever should be considered in the differential diagnosis of fever of unknown origin.

Child↗
PubMed1979

Amyloid goitre in familial Mediterranean fever.

Three patients known to suffer from familial Mediterranean fever (FMF), systemic amyloidosis and chronic renal failure developed large amyloid goitres. Amyloid goitre is an extremely rare complication of systemic amyloidosis not previously described in FMF. The clinical and pathological features of these three cases were similar to those previously described in amyloid goitre. In two of the patients abnormalities in thyroid function were consistent with those documented in chronic renal failure. There was evidence of hypothyroidism in a third patient. There was no evidence of amyloid induced dysfunction of other endocrine organs.

Adult↗
PubMed1977

Protracted arthritis in familial Mediterranean fever.

A review of the files of familial Mediterranean fever (FMF) confirmed the rarity of patients suffering protracted arthritic attacks and the propensity of the joints, in general, to recover. While 70% of those afflicted suffered bouts of synovitis, only 57 patients (5% of the FMF-population) experienced protracted attacks involving a total of 84 joints, 36 of them knees and 25 hips. Functional and, usually, anatomical integrity was regained in all but 27 joints. Of the 27 joints producing residual incapacity, 21 were hips. Seven hips showed roentgenologically typical aseptic necrosis of the femoral head and 14 only sclerosis and narrowing of the joint space. Eight hips eventually required total prosthetic replacement. We suggest that the poor prognosis of the hip, in contrast to other joints affected by protracted FMF-arthritis, is related not directly to the metabolic aberrration underlying the disease but to attenuation of the arterial blood supply of the femoral head by synovial exudation. Early aspiration of exudate could alter the prognosis by preventing the complication of aseptic necrosis.

Adolescent↗
PubMed1979

Renal transplantation in the amyloidosis of familial Mediterranean fever. Experience in ten cases.

Ten patients with familial Mediterranean fever (FMF) and histologically confirmed amyloidosis received cadaver kidney transplants for treatment of terminal renal disease. Colchicine, 1 mg daily, was included in the routine postoperative regimen from 1974 for amyloidotic patients. Graft and patient survival were compared with ten nonamyloidotic recipients of renal grafts matched for age, sex, type of allograft, and HLA compatibility. In the FMF group, five of ten grafts have survived from 20 to 64 months; in the control group, six of ten. While only recipients with functioning grafts survived in the FMF group, patient survival in the control group is eight of ten after one year. In all five FMF survivors, graft function is satisfactory, proteinuria is absent, and blood creatinine levels are normal. Amyloid involvement of an allograft was documented 16 months after transplantation in the only patient whose maintenance colchicine dosage had been reduced to 0.5 mg daily.

Adult↗
PubMed1977

Familial Mediterranean fever. Recent advances in pathogenesis and management.

The success of colchicine therapy in the management of familial Mediterranean fever has provided new direction to investigations into the pathogenesis of this disease. Examination of HLA antigen frequencies in 53 patients with familial Mediterranean fever and appropriate controls, as well as various immunologic studies have yielded no significant differences. However, B lymphocyte typing and assays for immune complexes, lymphokines and prostaglandins may be of potential interest. Preliminary studies indicate that leukocytes of patients with familial Mediterranean fever release increased amounts of lysozyme (P<0.01), when subjected to high temperatures, and of both lysozyme and myeloperoxidase at low osmotic concentrations. The known and potential effects of colchicine on leukocyte and cellular metabolism, and the current status of colchicine prophylaxis are reviewed. In patients receiving an optimum colchicine dose of 1.5 to 1.8 mg per day, side effects have been minimal and the frequency of attacks has been decreased significantly.

Adult↗
PubMed1979

Phagocyte functions in familial Mediterranean fever.

Monocytes derived from peripheral blood of patients with familial Mediterranean fever (F.M.F.) demonstrated lower phagocytic capacity for Shigella flexneri and depressed bactericidal activity against S. albus when compared to monocytes from healthy individuals. Treatment of patients with colchicine did not alter these functions. On the other hand, chemokinesis of PMN of F.M.F. patients was enhanced especially during attacks. Colchicine treatment decreased significantly the PMN chemotactic migration.

Adolescent↗
PubMedDate not supplied

Monocyte function in familial Mediterranean fever.

Monocytes derived from the peripheral blood of patients with familial Mediterranean fever (FMF) demonstrated a consistently lower phagocytic capacity (38-44%) for 125I-labelled Shigella flexneri when compared to monocytes from healthy subjects. Phagocytosis of both viable and killed Staphylococcus albus was similar in patients and controls. However, FMF monocytes had a two- to eight-fold depressed bactericidal capacity against S. albus in comparison to normal monocytes. Acid phosphatase and beta-glucuronidase monocyte activities were similar in patients and controls. It is suggested that the defects in monocyte function may be of importance in the pathogenesis of FMF. Colchicine had no effect on any of the indices studied.

Adolescent↗
PubMed1977

Renal vein thrombosis as the major cause of renal failure in familial Mediterranean fever.

Eighteen out of 57 patients (31-6 per cent) suffering from Familial Mediterranean Fever (FMF) were found to have the nephrotic syndrome, histologically proven amyloidosis and progressive renal failure. In 14 cases renal function deteriorated rapidly after the first appearance of significant proteinuria, and 12 cases (66-7 per cent) required regular haemodialysis. Seven of these patients, seen in the early stages of renal impairment, were subsequently diagnosed clinically as probably having developed renal vein thrombosis. There was radiological proof of intrarenal or major renal vein occlusion in five which in one patient progressed to inferior vena cave obstruction. Treatment with heparin, plasminogen activators and fibrinogenolytic agents was disappointing although renal function has stabilized in one patient on long term oral anticoagulant therapy. It is suggested that renal vein thrombosis is common in FMF with renal amyloidosis and usually causes rapid deterioration of function and irreversible renal failure requiring dialysis. Renal phlebography may delineate clot in the main renal veins or indicate areas of reduced blood flow due to thromboses in intrarenal venules. Treatment is only partially satisfactory but there is some evidence to suggest that renal phlebography should be undertaken promptly when renal function begins to fall followed by anticoagulant therapy to prevent further thromboembolic complications.

Acute Kidney Injury↗
PubMed1977

Constrictive pericarditis in familial Mediterranean fever.

Fibrosing peritonitis and constrictive pericarditis occurred in an 18-year-old patient who manifested the classic features of familial Mediterranean fever (FMF). Pericardial calcification had been present in chest X-rays taken when the patient was five years old. Intermittent intestinal obstruction and congestive heart failure were relieved by appropriate surgical intervention, but attacks of FMF subsided only after colchicine therapy. This is the first instance of nonuremic pericarditis in our experience with over 1,000 FMF patients. Critical analysis of the reported cases in which pericarditis was attributed to FMF strengthens our belief that the occurrence of pericarditis in a patient with FMF probably represents a fortuitous intercurrent disease.

Adolescent↗