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Familial Mediterranean Fever

FMF

Familial Mediterranean Fever (FMF) is a genetic disorder that causes brief recurrent episodes of fever, peritonitis, pleuritis, and arthritis.


Presentation

The typical symptoms of the disease are recurrent attacks severe pain (due to serositis at one or more sites) and fever that last 1 to 3 days and resolves spontaneously.

The frequency of attacks varies by patient and there are usually no triggering events. Although some patients have reported vigorous exercise, exposure to cold, emotional stress and/or menstruation as triggers.

The classic presentation of the disease is sudden onset of the following:

  • Fever: Temperature rises rapidly to 100.4 to 104 F. In most cases the fever precedes the other symptoms.
  • Peritoneal symptoms: Almost all (95%) of patients with FMF experience painful attacks localized to the abdomen. Pain and tenderness are initially localized and then progress to become generalized. Abdominal guarding, rebound tenderness, rigidity, and an ileus are often present. (These findings closely resemble those of an acute surgical abdomen. These patients may undergo an exploratory laparotomy, during which an uninflamed appendix is removed). Recurrent attacks of peritonitis may cause adhesions that result in bowel obstruction and reduction of fertility in females.
  • Pleural and pericardial symptoms: Direct inflammation of pleura, pericardium or referred pain from the diaphragmatic inflammation may onset without any triggering event. It is similar to pleuritic pain. On imaging, a small transient effusion is often seen. These episodes usually resolve within 3 to 7 days.
  • Synovitis: The joint pain, arthritic like in nature is usually monoarticular or oligoarticular; joints most often affected are the knee, ankle, hip and elbow (in order of frequency). Small synovial effusions are common during attacks. Fluid analysis reveals 200 to 1 million WBCs with a predominance of neutrophils and elevated total protein concentration. The arthritis may last for weeks to months. The synovitis usually resolves without joint destruction.
  • Erysipelas-like skin lesions: They have been reported in up to 40% of FMF patients. The lesion is tender, raised and red (mimicking acute cellulitis) occurring unilaterally on the lower leg, ankle or foot. Recovery occurs in days and is spontaneous.

Other less common manifestations include – pericarditis, orchitis, recurrent aseptic meningitis, febrile bouts of myalgia that may last up to a month, increased incidence of vasculitis such as polyarthritis nodosa and Henoch-Schonlein purpura.

Splenomegaly
  • Her main symptoms of FMF at this stage were swelling of her left elbow, splenomegaly, and diarrhea.[bloodjournal.org]
  • Some studies suggest that certain phenotypic expressions, such as of M694V/M694V homozygous, are more likely to have involvement of arthritis, renal amyloidosis, erysipelas-like skin lesions, oral lesions, higher fever, and splenomegaly.[symptoma.com]
  • 1-2 large joints, most commonly ankles, knees or wrists chronic destructive arthritis migratory polyarthritis Skin rashes affect 40% various presentations (see below) Scrotal pain ( orchitis ) affects 5% especially young children Spleen enlargement (splenomegaly[dermnetnz.org]
Fever
  • BACKGROUND: Familial Mediterranean fever is a hereditary autoinflammatory disease, mainly characterized by periodic fever and serositis.[ncbi.nlm.nih.gov]
  • Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin.[ncbi.nlm.nih.gov]
  • BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis.[ncbi.nlm.nih.gov]
  • Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache.[ghr.nlm.nih.gov]
  • […] are more common in the familial Mediterranean fever group, with immunosuppression drug withdrawal.[ncbi.nlm.nih.gov]
Amyloidosis
  • MATERIALS AND METHODS: A total of 240 individuals consisting of 40 patients with FMF-related amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls were recruited.[ncbi.nlm.nih.gov]
  • However, homozygosis for SAA1 α/α polymorphism was associated with proteinuria and amyloidosis whereas carrying the β/β polymorphism was found to be protective for amyloidosis.[ncbi.nlm.nih.gov]
  • Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients.[ncbi.nlm.nih.gov]
  • KEYWORDS: Algeria; Familial Mediterranean fever; MEFV gene; Renal AA-amyloidosis; p.M694I[ncbi.nlm.nih.gov]
  • Abstract Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules.[ncbi.nlm.nih.gov]
Turkish
  • Based on these observations, the ACE I/D variant D/D genotypes implicate a possible risk in the FMF-related amyloidosis among Turkish population.[ncbi.nlm.nih.gov]
  • History Meanings of "familial mediterranean fever" in Turkish English Dictionary : 1 result(s) Category English Turkish Medical 1 Medical familial mediterranean fever ailevi akdeniz ateşi Meanings of "familial mediterranean fever" with other terms in[tureng.com]
  • Thus, the regional origin should be regarded as a determining factor in the diagnosis of FMF in Turkish patients.[ncbi.nlm.nih.gov]
  • The mortality rate among Turkish patients was high, but this high rate may have represented selection bias. No pre–colchicine-therapy data are available from Arabic patients.[emedicine.com]
Italian
  • It has been described in several ethnic groups including Sephardic Jews, Armenians, Turks, North Africans, Arabs, Greeks, and Italians. However, the disease is not restricted to these groups and sporadic cases have been reported.[ncbi.nlm.nih.gov]
  • Familial Mediterranean fever (FMF) is a disease of people with genetic origins in the Mediterranean basin, predominantly Sephardic Jews, North African Arabs, Armenians, Turks, Greeks, and Italians.[msdmanuals.com]
  • Familial Mediterranean fever can affect people in any ethnic group, but it may be more likely in people of North African, Jewish, Arab, Armenian, Turkish, Greek or Italian descent.[mayoclinic.org]
  • I am a full-blooded Italian. She also said I have the HLA-B27 antigen. Two months later, my sed rate is back to normal, but I’ll be taking colchicine for another month and then try to wean off of it.[vnews.com]
High Fever
  • These episodes occurred monthly along with a high fever and elevation of the C-reactive protein (CRP) level. The patient became afebrile and his CRP level decreased following the administration of a non-steroidal anti-inflammatory drug.[ncbi.nlm.nih.gov]
  • If the condition goes undiagnosed, patients may be at increased risk of earlier death due to high fever and complications of extreme inflammation.[babymed.com]
  • PATIENT CONCERNS: A 31-year-old Japanese woman suffered high fever and arthralgia lasting for 2 to 3 days after each menstrual period's start.[ncbi.nlm.nih.gov]
  • The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the hematologic disease progressed.[ncbi.nlm.nih.gov]
  • On the follow-up, she was hospitalized for the high fever two times. Genetic analysis revealed homozygote M694 V mutation. Bloody diarrhea and other clinical findings were improved after colchicine therapy.[ncbi.nlm.nih.gov]
Pleuritic Pain
  • It is similar to pleuritic pain. On imaging, a small transient effusion is often seen. These episodes usually resolve within 3 to 7 days.[symptoma.com]
Tachypnea
  • Other symptoms include chest pain secondary to pleuritis (in 45%), fever, tachypnea, usually unilaterally decreased breath sounds, and pleural friction rub. A mono- or oligo- articular arthritis involving hip, knee or ankle is seen in 75%.[clinicaladvisor.com]
Abdominal Pain
  • Abstract Chronic abdominal pain sometimes constitute a major challenge, specially when a patient has two diseases with dominant features of abdominal pain in both.[ncbi.nlm.nih.gov]
  • A 40-year-old woman presented with fever and abdominal pain. The patient had had these symptoms on and off since childhood and consulted many hospitals. A 38-year-old man had abdominal pain and fever since the age of 30 years.[ncbi.nlm.nih.gov]
  • Additionally, 76% of healthy controls reported having abdominal pain consistent most probably with dysmenorrhea.[ncbi.nlm.nih.gov]
  • CASE PRESENTATION: A 30-year-old Japanese man presented to us with a few years' history of recurrent episodes of fever, abdominal pain and diarrhea.[ncbi.nlm.nih.gov]
  • Patients with P369S have higher abdominal pain, chest pain and fever than expected. Arthritis was high in K695R heterozygous genotype. One hundred and eighteen patients were carrying more than one polymorphic allele.[ncbi.nlm.nih.gov]
Diarrhea
  • CASE PRESENTATION: A 30-year-old Japanese man presented to us with a few years' history of recurrent episodes of fever, abdominal pain and diarrhea.[ncbi.nlm.nih.gov]
  • Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination.[ncbi.nlm.nih.gov]
  • The main therapeutic agent for FMF is colchicine and diarrhea is the most common side effect of this drug. This side effect also causes problems about management of these diseases when both of them are clinically active.[ncbi.nlm.nih.gov]
  • PATIENT CONCERNS: A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. He had presented with recurrent fever, abdominal pain, anal fistula and stomatitis.[ncbi.nlm.nih.gov]
  • Colchicine intoxication occurred despite intact kidney function and was characterized by abdominal pain, diarrhea, weakness, rhabdomyolysis, hepatitis, kidney impairment and bone marrow injury.[ncbi.nlm.nih.gov]
Vomiting
  • After this period, she was hospitalized 3 times during a 4-month period with fever, nausea, vomiting, and atypical abdominal pain.[ncbi.nlm.nih.gov]
  • The eyes often appear as bulging and children often have episodes of vomiting. The skull is often slightly increased in size.[my.clevelandclinic.org]
  • Abdominal pain with signs of peritonitis - pain can originate in one area and then spread over the whole abdomen; may be mistaken for appendicitis, cholecystitis or renal colic; there may be associated constipation followed by diarrhoea; vomiting can[patient.info]
  • Following this interruption, the girl complained of eight fever attacks in 3 months accompanied by abdominal pain, vomiting, chest pain, and headache. Anakinra was reintroduced.[doi.org]
Nausea
  • After this period, she was hospitalized 3 times during a 4-month period with fever, nausea, vomiting, and atypical abdominal pain.[ncbi.nlm.nih.gov]
  • Mild symptoms (myalgia, headache, nausea, dyspnea, arthralgia, low back pain, asthenia and anxiety) precede attacks and last about 17 hours.[orpha.net]
  • Case Report In October 2013, a 54-year-old Japanese man was admitted to our hospital for evaluation of periodic fever, nausea, vomiting, abdominal pain, watery diarrhea, and renal dysfunction.[karger.com]
  • When comparing single and divided doses of colchicine, one study reported no difference in adverse events (including anorexia, nausea, diarrhoea, abdominal pain, vomiting and elevated liver enzymes) between groups (moderate-quality evidence) and the second[cochrane.org]
Severe Abdominal Pain
  • The syndrome is characterized by recurrent paroxysms of severe abdominal pain with fever which may be as high as 105 F. Chilliness or a shaking chill may accompany the attacks.[doi.org]
  • Familial Mediterranean fever (FMF): An inherited disorder featuring short recurring crises of severe abdominal pain and bouts of fever . Other symptoms include arthritis , chest pain from inflammation of the lung cavity, and skin rashes.[medicinenet.com]
  • Symptoms Individuals with Familial Mediterranean Fever suffer from the following: • Recurring bouts of fever, most commonly with severe abdominal pain due to inflammation of the abdominal cavity (peritonitis) • Arthritis (painful, swollen joints) • Chest[mazornet.com]
  • The clinical definition is recurrent self-limiting attacks of fever, severe abdominal pain, arthralgias or monoarthritis, pleurisy, or an erysipeloid rash on one ankle or foot, typically lasting 24 to 72 hours.[bestpractice.bmj.com]
Chest Pain
  • Patients with P369S have higher abdominal pain, chest pain and fever than expected. Arthritis was high in K695R heterozygous genotype. One hundred and eighteen patients were carrying more than one polymorphic allele.[ncbi.nlm.nih.gov]
  • A 59-year-old woman had had episodes of fever, abdominal pain, and chest pain for more than 20 years. MEFV gene analysis showed compound heterozygosity for L110P, E148Q, and M694I in all three patients.[ncbi.nlm.nih.gov]
  • Abdominal pain and fever were significantly higher, and arthralgia, arthritis, pleural chest pain, and pericarditis were significantly less frequent in the pediatric group than in adults (p CONCLUSION: Psoriasis was more common in FMF patients than in[ncbi.nlm.nih.gov]
  • A similar questionnaire assessing this time the frequency of abdominal pain, chest pain and fever attacks was given to the patients with FMF. The healthy controls received both questionnaires.[ncbi.nlm.nih.gov]
  • At 8 months after transplant, he was readmitted because of severe arthralgia, prolonged fever, pleuritic chest pain, diffuse abdominal pain, purpuric rash, macroscopic hematuria, proteinuria, and diarrhea.[ncbi.nlm.nih.gov]
Purpura
  • Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare.[ncbi.nlm.nih.gov]
  • An association of FMF with systemic vasculitis, namely Henoch-Schönlein purpura, polyarteritis nodosa and Behçet's disease has been described.[ncbi.nlm.nih.gov]
  • Vasculitis - the following are more common in those with FMF: Henoch-Schönlein purpura [ 9 ] Polyarteritis nodosa [ 10 ] Behçet's disease Not all of the above features may be present during an attack.[patient.info]
  • Leukocytoclastic vasculitis is seen on biopsies from Henoch-Schönlein purpura or polyarteritis nodosa -like lesions. Investigations for myalgia (muscle pain) reveal normal muscle enzymes, electromyography (EMG) and muscle biopsy .[dermnetnz.org]
Skin Lesion
  • Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare.[ncbi.nlm.nih.gov]
  • FMF is an autoinflammatory disorder characterized by recurrent and self-limited attacks of pyrexia, arthritis and erysipelas-like skin lesions. Lung disorders associated with FMF are extremely rare.[ncbi.nlm.nih.gov]
  • It may present with bilateral hilar lymphadenopathy, skin lesions, the involvement of eye and symptoms on the locomotor system.[ncbi.nlm.nih.gov]
  • Fever Abdominal pain Chest pain Achy, swollen joints Muscle aches Skin lesions, redness, cellulitis What causes this disorder? FMF is caused by a defective gene (gene mutation) that is passed from parents to children.[symptoma.com]
  • Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent bouts of fever and peritonitis , sometimes with pleuritis, skin lesions, arthritis, and, very rarely, pericarditis.[msdmanuals.com]
Urticaria
  • Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare.[ncbi.nlm.nih.gov]
  • They were evaluated for the presence of rhinitis, atopic dermatitis, urticaria and asthma.[ncbi.nlm.nih.gov]
  • [Crossref] Lipsker D (2013) Neutrophilic urticaria with systemic inflammation identical to neutrophilic urticarial dermatosis. JAMA Dermatol 149: 1244-1245.[oatext.com]
  • The rash resembles urticaria (hives), but is not itchy. The rash increases in intensity with fever. Patients have neurologic problems from chronic meningitis (inflammation of the membranes surrounding the brain).[my.clevelandclinic.org]
  • Recurrent urticaria as a rare manifestation of familial Mediterranean fever. J Investig Allergol Clin Immunol. 2002; 12 :60–1. [ PubMed : 12109534 ] Alpa M, Roccatello D.[ncbi.nlm.nih.gov]
Exanthema
  • Clinical differential diagnoses encompass erysipelas, erysipelas-like rashes after joint replacements, mercury exanthemas and malignant counter-parts (e.g. erysipelas melanomatosa) respectively paraneoplastic rashes [12-14].[oatext.com]
Arthritis
  • Abstract Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and arthritis.[ncbi.nlm.nih.gov]
  • Chronic arthritis: Approximately 5% of patients with FMF develop chronic arthritis that sometimes leads to destructive arthritis of hips or knees and may necessitate joint replacements.[emedicine.com]
  • However, arthritis in 23 (8%) of the 288 cases was not self-limited; and they subsequently diagnosed with juvenile idiopathic arthritis in addition to FMF.[ncbi.nlm.nih.gov]
Arthralgia
  • He had frequent and severe arthralgias, despite colchicine, then etanercept and adalimumab, impairing his quality of life.[ncbi.nlm.nih.gov]
  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema.[ncbi.nlm.nih.gov]
  • In this paper, studies of 6 patients with periodic diseases, three featured chiefly by fever and abdominal pain, one by neutropenia, one by arthralgia and one by myasthenia, are reported and compared with those of similar and different periodic diseases[doi.org]
  • She subsequently developed arthralgia and morning stiffness in her hands. We also diagnosed the patient with rheumatoid arthritis (RA), and corticosteroid and salazosulfapyridine therapy improved her symptoms.[ncbi.nlm.nih.gov]
  • She and her family experienced self-limiting febrile attacks with arthralgia, which led us to suspect FMF. Genetic analyses revealed compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q).[ncbi.nlm.nih.gov]
Calf Pain
  • Non-canonical manifestations of FMF are increasingly recognized in recent years, such as calf pain, vasculitides and neurological disease. Herein, we describe unifocal osteitis in an FMF patient who responded well to anakinra.[academic.oup.com]
Ankle Arthritis
  • arthritis and rash in an FMF attack The pain may be so severe that the first attack is thought to be appendicitis.[amyloidosis.org.uk]
Memory Impairment
  • She also had memory impairment, insomnia, hyperhidrosis, and muscle twitches. Electromyography confirmed widespread myokymia, and there was evidence of temporal region dysfunction on electroencephalography.[ncbi.nlm.nih.gov]
Dysesthesia
  • RLS an urge to move the extremities that may be accompanied by dysesthesias, and significantly affects quality of life of affected patients. The frequency of RLS is higher in different systemic inflammatory diseases.[ncbi.nlm.nih.gov]

Workup

The clinical diagnosis of FMF is based upon both the characteristic clinical features and the exclusion of other illnesses. Major criteria for the clinical diagnosis of FMF are [2]:

  • Intermittent episodes of fever with good, uncomplicated intermittent health
  • Concomitant serositis with abdominal pain and tenderness
  • Absence of an alternative cause
  • Responsiveness to colchicine
  • Monoarthritis

Laboratory tests

Acute attacks of FMF are accompanied by elevated serum markers of systemic inflammation. Leukocytosis with a predominance of neutrophils is common as is elevation of sed rate and other acute phase reactants (such as C-reactive protein, erythrocyte sedimentation rate (ESR), serum amyloid protein (SAA) and fibrinogen).

Exclusion of differential diagnosis is also helpful in the diagnosis process. Exclusion of disease processes that resemble FMF must be excluded before making the clinical diagnosis of FMF. These include: surgical emergencies (appendicitis, intussception, perforated ulcer), hereditary angioedema, acute intermittent porphyria, relapsing pancreatitis, systemic lupus erythematosus and vasculitis, hypertriglyceridemia, epilepsy and abdominal migraines.

Genetic testing is now available for FMF [3].
Symptomatic patients with at least one MEFV mutation should be considered as having FMF.

Patients who show no mutation of MEFV but are symptomatic should be offered a trial of colchicine to aid in diagnosis. Response to colchicine should indicate a diagnosis of FMF in these groups of patients.

Paragonimus Westermani
  • She was diagnosed with paragonimiasis caused by Paragonimus westermani. Praziquantel therapy improved the abnormal chest shadow, but did not relieve her symptoms.[ncbi.nlm.nih.gov]

Treatment

Colchicine is used to treat FMF. It reduces or eliminates FMF attacks and prevents the development of amyloidosis. Anti-inflammatory medications may be given during an attack. 

Prognosis

The goals of therapy and the prognosis is dependent on prevention of symptoms. Long term complications include progressive secondary amyloidosis, with depositions in the kidney, spleen liver and gut most commonly.

With the use of colchicine for diagnosis and treatment, the incidence of amyloidosis has significantly decreased [4].

Etiology

FMF is an inherited autosomal recessive disorder. The MEVF gene is located on the short arm of chromosome 16 and exhibits missense and nonsense mutations at one of three sites on exon 10 of the gene.

Some studies suggest that certain phenotypic expressions, such as of M694V/M694V homozygous, are more likely to have involvement of arthritis, renal amyloidosis, erysipelas-like skin lesions, oral lesions, higher fever, and splenomegaly.

Patients with these mutations require higher doses of cholchine to prevent attacks than patients with mutations in other genes.

Epidemiology

FMF is most prevalent in patients in persons of Mediterranean ethnicity [1]:

  • Sephardic Jewish – prevalence 1 case/250-1000 population; gene frequency of 1/8-16
  • Ashkenazi Jewish – prevalence: 1 case/73,000 population; gene frequency 1/5
  • Armanian – prevalence: 1 case/500 population
  • Arabic persons – prevalence 1 case/2600 population in children; gene frequency 1/50.

Gender: FMF is more prevalent in adult men than in adult women (male to female ratio is 1.5:2.1).

Age of onset differs: < 10 years old (50-60%), < 20 years old: (80-95%) and 20 to 40 years old ( -10%). Onset in persons older than 40 years is rare.

Sex distribution
Age distribution

Pathophysiology

The MEFV gene encodes a large amino acid protein that is expressed mainly in the cytoplasm in cells of myloid lineage along with synovial fibroblasts and dendritic cells.

It is responsible for the production of a protein called pyrin, which acts as an intranuclear regulator of transcription of the peptides involved in inflammation.

Pyrin is expressed mostly in neutrophils and plays a key role in the innate immune system by defending the body against external pathogens and noxious agents. It triggers the release of IL-1 which regulates apoptosis. Mutations in this gene render it unable to perform these protective functions.

Prevention

There are no guidelines for prevention of FMF.

Summary

Familial Mediterranean Fever (FMF), also called polyserositis, is in inflammatory disorder characterized by recurrent paroxysmal attacks of fever and serosal inflammation that includes peritonitis, pleuritis and arthritis that last for one to three days and then spontaneously abate.

It is an autosomal recessive disorder that is most commonly seen in persons of Mediterranean ethnicity.

Patient Information

Familial Mediterranean fever is an inflammatory disorder that causes recurrent bouts of fevers and painful inflammation of your abdomen, lungs and joints. It is an inherited disorder that occurs mainly in persons from the Mediterranean area (including Sephardic Jews, Arabs, Italians, Armenians and Turks).

Persons of other ethnicities may also have the disease. There is no cure for this disorder however you can do things to prevent and alleviate your symptoms.

What are the symptoms of FMF?

The symptoms usually start in childhood. The symptoms are painful attacks and usually last one to three days, and then completely stop.

What causes this disorder?

FMF is caused by a defective gene (gene mutation) that is passed from parents to children. The gene mutation occurs in a gene called MEFV. The degree and type of symptoms you experience are based on the part of the gene that is affected. It is an autosomal recessive trait, meaning that both parents must have the mutated gene in order for their child to develop the disease.

How is it diagnosed?

Tests that are used to diagnose MFM include:

  • Physical exam – your doctor will ask you about your symptoms and examine you
  • Review of your family history – your doctor will ask you about any illness that your family members have had, in particular your first degree relatives (mother, father, brothers, and sisters).
  • Blood tests – When you are experiencing an attack, certain inflammatory markers are elevated in your body. One such marker is the white blood cell count. During your attacks, your doctor may ask you to have lab work performed.
  • Genetic testing is the definitive way to diagnose this disorder (although sometimes the test may be falsely negative). Genetic testing will allow scientists to evaluate your DNA, specifically the MEFV gene that contains the defect that causes this disease.

What are the treatments for this disease?

There is no cure for FMF at this time. However, there are treatments that can help prevent the symptoms. Medications that are commonly used to control symptoms are:

Colchicine - This drug is taken in pill form and reduces inflammation in your body and helps prevent attacks. Your doctor will determine the right dose for you based on your symptoms.

Anti-inflammatory medications may be given during an attack. There are currently some anti-inflammatory medications that are in testing now; you may be eligible to take these medications or enroll in a clinical trial. Ask your doctor about these newer medications.

Support groups may be helpful in reducing your anxiety and depression about the disease. You may also get information through others about ways to help reduce your symptoms through a support group. Even talking to a family member, friend or counselor can help.

References

Article

  1. Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet. Feb 2002;10(2):145-9
  2. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129: 539.
  3. Babior BM, Matzner Y. The familial Mediterranean fever gene—cloned at last. N Engl J Med 1997; 337:1548.
  4. Tunca M, Akar S, Onen F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84:1.

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Last updated: 2018-06-21 20:05