Materiały źródłowe

• #1 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560754/

  Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that mainly affects people of Mediterranean origin. […] This activity reviews the evaluation and management of patients with FMF and highlights the role of the healthcare team in promptly diagnosing and treating patients affected with FMF. […] FMF is generally a clinical diagnosis. The classic presentation of symptoms supported by the presence of family history and response to colchicine help confirm a diagnosis. Laboratory and radiographic studies may help support the diagnosis or exclude other causes. […] Genetic testing can help confirm the diagnosis in cases with atypical presentation of FMF. However, around 10 percent of patients who meet diagnostic criteria based on the clinical presentation do not have any mutation.

• #2 Familial Mediterranean Fever

  https://www.arthritis.org/diseases/familial-mediterranean-fever

  Familial Mediterranean Fever (FMF) is diagnosed through tests and procedures, including: […] The diagnosis can be confirmed by genetic testing.

• #3 Familial Mediterranean fever – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/1163

  Familial Mediterranean fever is primarily a genetic disease due to Mendelian-recessive inheritance of Mediterranean fever gene mutations. […] Clinical judgement is important in establishing the diagnosis, which is often made retrospectively. […] Majority respond to colchicine, which is almost always diagnostic and distinguishes from other inherited periodic fever syndromes. […] MEFV gene analysis is the only objective tool that confirms the diagnosis of FMF. […] Therefore, the diagnosis remains predominantly clinical because mutations cannot always be identified on both alleles, even after complete gene analysis. […] FMF’s major complication is systemic secondary amyloidosis. This can readily be prevented by colchicine prophylaxis, which explains the need for prompt and accurate diagnosis.

• #4 Familial Mediterranean Fever (FMF): What It Is & Symptoms

  https://my.clevelandclinic.org/health/diseases/familial-mediterranean-fever

  Familial Mediterranean fever is a hereditary inflammatory disease. […] Early diagnosis and treatment can help reduce your symptoms and prevent potential long-term complications, like amyloidosis. […] To diagnose familial Mediterranean fever, a healthcare provider will: Review your symptoms, how often they occur and for how long; Review your family health history and genetic heritage; Examine you for signs of inflammation during an episode; Test your blood for signs of inflammation during an episode; Recommend genetic testing for common variations of the MEFV gene; Observe your response to treatment for familial Mediterranean fever. […] The standard treatment for familial Mediterranean fever is an anti-inflammatory medication called colchicine. It works by inhibiting the activity of white blood cells called neutrophils, which play a role in inflammation. Colchicine can help prevent or reduce the frequency of FMF attacks and its complications. It works for more than 90% of people with FMF. Most of these people will need to take it daily for life.

• #5 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560754/

  Several criteria sets have been published, but the Tel-Hashomer criteria set of Israel is widely used for the diagnosis of FMF. Its sensitivity and specificity are more than 95% and 97%, respectively. […] The presence of one major or two minor criteria, or one minor with five supportive criteria can establish the diagnosis.

• #6 Familial Mediterranean fever

  https://dermnetnz.org/topics/familial-mediterranean-fever

  Familial Mediterranean fever is usually inherited as an autosomal recessive condition, meaning both parents must carry the defective gene and there is a one in four chance of a child being affected (MIM 249100). […] Diagnosis of familial Mediterranean fever is made using the Tel-Hashomer criteria: […] The diagnosis if definite if 2 major or 1 major + 2 minor criteria are met. […] The diagnosis is probable if 1 major + 1 minor criteria are met. […] Major criteria: Recurrent febrile episodes associated with peritonitis, pleuritis or synovitis. […] Amyloidosis of AA-type without a predisposing disease. […] Favourable response to daily colchicine. […] Minor criteria: Recurrent febrile episodes. […] Erysipelas-like erythema. […] A positive history of familial Mediterranean fever in a first-degree relative.

• #7 Table: Tel HaShomer Criteria for the Diagnosis of Familial Mediterranean Fever*-Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/multimedia/table/tel-hashomer-criteria-for-the-diagnosis-of-familial-mediterranean-fever

  Tel HaShomer Criteria for the Diagnosis of Familial Mediterranean Fever* […] Diagnosis requires 1 major criterion or 2 minor criteria. […] Typical attacks are recurrent (at least 3 episodes of the same type), febrile (rectal temperature 38 C), and short in duration (12 to 72 hours). […] Incomplete attacks are painful and recurrent. They differ from typical attacks in 1 or 2 features:

• #8 Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever | Pediatric Rheumatology | Full Text

  https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-015-0044-6/tables/1

  An FMF diagnosis requires 1 major criteria, or 2 minor criteria, or 1 minor criteria plus 5 supportive criteria, or 1 minor criteria plus 4 of the first 5 supportive criteria. […] Definitive diagnosis: 2 major or 1 major and 2 minor. […] Probable diagnosis: 1 major and 1 minor. […] Two of five criteria diagnose FMF.

• #9 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  Familial Mediterranean Fever (FMF) is the prototype and most common autoinflammatory disease that is particularly frequent in populations originating from the Mediterranean basin. It is characterized by episodes of recurrent inflammation lasting 2–3 days. […] Recently, the Eurofever/PRINTO group has validated a new set of classification criteria for FMF, including clinical and genetic variables. […] A diagnosis of FMF relies on characteristic clinical features, and the presence of MEFV mutation usually supports this diagnosis. […] The first criteria set for FMF was proposed mainly for adults and these criteria are referred to as Tel-Hashomer criteria. […] Recently, the Eurofever/PRINTO group published new classification criteria, including a combination of ethnicity, clinical manifestations and genotype.

• #10 FMF is not always “fever”: from clinical presentation to “treat to target” | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-019-0766-z

  Familial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. […] The diagnosis needs a clinical definition of the disease and a genetic confirmation. An accurate differential diagnosis is mandatory to exclude infective agents, autoimmune diseases, etc. […] For these reasons, diagnostic criteria were developed, as Tel Hashomer Hospital criteria, the Turkish FMF Paediatric criteria, the clinical classification criteria for autoinflammatory periodic fevers formulated by PRINTO. […] The diagnosis of FMF needs a clinical definition of the disease, and a genetic confirmation. […] Nevertheless, many patients have no genetic support, and in some subjects with the relieve of MEFV mutations, the phenotype is not in line with the diagnosis of FMF.

• #11 Familial Mediterranean fever

  https://dermnetnz.org/topics/familial-mediterranean-fever

  Blood tests during an attack may show: Increased white blood cell count (leukocytosis), erythrocyte sedimentation rate (ESR), serum fibrinogen, C-reactive protein (CRP). […] Gene sequencing can be performed by specialised laboratories as targeted mutation analysis (looking for the commonest mutations) or sequence analysis of select exons (looking at exon 10 and possibly others). […] Identification of asymptomatic but genetically affected individuals means treatment can be commenced to prevent the development of amyloidosis.

• #12 Familial Mediterranean Fever Workup: Laboratory Studies, Genetic Testing, Imaging Studies

  https://emedicine.medscape.com/article/330284-workup

  Results of routine blood tests performed during the acute attacks of familial Mediterranean fever (FMF) are nonspecific. Levels of acute-phase reactants (ie, C-reactive protein, erythrocyte sedimentation rate, amyloid A protein, fibrinogen) are elevated. The white blood cell count is usually elevated during an attack. The elevated levels rapidly return to the reference range as the attack abates. […] Genetic testing is available for FMF. Testing for a limited number of genes may be appropriate in patients with a known ethnic background. Complete gene sequencing may be more helpful in patients of mixed or unknown ethnicity. Symptomatic patients with at least one MEFV mutation should be considered to have FMF. Patients with no gene mutations who meet criteria for FMF should be offered a trial of colchicine. Given the high gene frequency and low penetrance in certain populations (eg, Ashkenazi Jews, Armenians), gene testing should be closely correlated to clinical findings to avoid false-positive results.

• #13 Familial Mediterranean fever Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/familial-mediterranean-fever

  Familial Mediterranean fever (FMF) is a rare disorder that may be passed down through families (inherited). It involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints. […] If genetic testing shows that you have two pathogenic variants and your symptoms match the typical pattern, the diagnosis is nearly certain. Lab tests and x-rays or other imaging tests are used to check for other possible diseases to help confirm the diagnosis. […] Levels of certain blood tests may be higher than normal when done during an attack. Tests may include: Complete blood count (CBC) that includes white blood cell count, C-reactive protein (CRP) to check for inflammation, Erythrocyte sedimentation rate (ESR) to check for inflammation, Fibrinogen test to check blood clotting.

• #14 Familial Mediterranean Fever Workup: Laboratory Studies, Genetic Testing, Imaging Studies

  https://emedicine.medscape.com/article/330284-workup

  Findings during an acute attack in patients with peritonitis, pleuritis, and arthritis are as expected and include air-fluid levels, pleural effusions, and synovial effusions. […] Massive amyloid infiltration of the blood vessels and of the endothelial side of the glomerular basement membrane occurs in the kidneys. In the rectal submucosa, the amyloid is found near the blood vessels. […] Amyloidosis can be presumed in patients with FMF, particularly those of North African descent who have proteinuria. Renal biopsy or, alternatively, submucosal rectal biopsy, is indicated in these patients.

• #15 Familial Mediterranean Fever – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/hereditary-periodic-fever-syndromes/familial-mediterranean-fever

  Diagnosis of familial Mediterranean fever is mainly clinical based on Tel HaShomer criteria, but genetic testing is available and is particularly useful in evaluation of atypical cases. […] However, current genetic testing is not infallible; some patients with phenotypically unmistakeable FMF have only a single mutated gene or occasionally no evident mutations in the MEFV gene. About 10 to 20% of patients who meet the diagnostic criteria for FMF do not have MEFV mutations, which suggests epigenetic and environmental factors contribute to the disease pathogenesis. […] Nonspecific findings include elevations in white blood cells with neutrophil predominance, erythrocyte sedimentation rate, C-reactive protein, and fibrinogen. Urinary excretion of 0.5 g protein/24 hours may suggest renal amyloidosis. […] Diagnosis requires 1 major criterion or 2 minor criteria.

• #16 Familial Mediterranean fever – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-mediterranean-fever/diagnosis-treatment/drc-20372475

  Tests and procedures used to diagnose familial Mediterranean fever include: […] A family history of Familial Mediterranean fever (FMF) increases your likelihood of developing the condition because this genetic change is passed from parents to their children. […] During an attack, blood and urine tests may show elevated levels of certain markers that indicate an inflammatory condition in your body. An elevated level of white blood cells, which fight infections, is one such marker. Protein in the urine that may indicate amyloidosis is another. […] Genetic testing may determine if your MEFV gene contains a gene change that is associated with FMF. Genetic tests aren’t advanced enough to test for every gene change that’s linked to FMF, so there is a possibility of false-negative results. For this reason, health care providers typically don’t use genetic tests as the sole method of diagnosing FMF. […] Genetic testing for FMF may be recommended for your first-degree relatives, such as parents, siblings or children, or for other relatives who may be at risk. Genetic counseling can help you understand gene changes and their effects.

• #17 Frontiers | Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management

  https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2017.00253/full

  Recently, a group of clinical and molecular experts reached a consensus to test for a total of 14 MEFV variants if possible. These include nine clearly pathogenic variants (M694V, M694I, M680I, V726A, R761H, A744S, I692del, E167D, and T267I) and five variants of unknown significance (E148Q, K695R, P369S, F479L, and I591T). […] The EULAR recommendations emphasize that the aim of FMF treatment is obtaining the control of acute attacks, minimizing the chronic and subclinical inflammation, preventing complications, and providing an acceptable quality of life. […] It is suggested that colchicine should be started as soon as the patient is clinically diagnosed as having FMF. If the patient lacks clinical manifestations or subclinical inflammation, genetic diagnosis is not a precise indication to start treatment; however, these patients should be followed-up closely for clinical symptoms or signs of subclinical inflammation.

• #18 Familial Mediterranean fever – Wikipedia

  https://en.wikipedia.org/wiki/Familial_Mediterranean_fever

  Familial Mediterranean fever generally has an autosomal recessive pattern of inheritance. FMF is an autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene, which encodes a 781 amino acid protein called pyrin. Various diagnostic criteria have been set, but the Tel-Hashomer clinical criteria are widely recognized. It has more than 95 percent and 97 percent sensitivity and specificity, respectively. For the criteria, typical attacks consist of all the following: recurrent (three or more episodes), febrile (rectal temperature of at least 38 C), painful inflammation, and a short duration of 12 to 72 hours. A genetic test is also available to detect mutations in the MEFV gene. Sequencing of exons 2, 3, 5, and 10 of this gene detects an estimated 97% of all known mutations. A specific and highly sensitive test for FMF is the „metaraminol provocative test (MPT)”, whereby a single 10 mg infusion of metaraminol is administered to the patient. A positive diagnosis is made if the patient presents with a typical, albeit milder, FMF attack within 48 hours.

• #19 What is FMF? – Familial Mediterranean Fever Foundation

  https://fmffoundation.org/do-you-have-fmf/

  A correct diagnosis is of primary importance and is essential for effective treatment. Because the inflammatory symptoms of FMF can look like many other conditions, misdiagnosis is common. Misdiagnosis is serious because it leads to inappropriate, ineffective and in some cases harmful treatments. There are three factors that contribute to a diagnosis of FMF: the pattern of symptoms/clinical observations, mutations found in the MEFV gene, a positive response to colchicine. […] If symptoms are consistent with FMF, then it is a positive response to colchicine that will confirm the diagnosis. This is a significant point. Negative genetic results should not rule out a colchicine trial because response to colchicine is the determining diagnostic factor, not genetic results. […] Genetic results can support an FMF diagnosis if mutations are found in the MEFV gene. They can help identify some patients who might be at risk of amyloidosis, and they provide a tool for testing other family members. But genetic results can be complex and difficult to interpret because hundreds of mutations have been found in the MEFV gene, not all of which have effects that are presently understood.

• #20 Case Report: A Patient Helps Diagnose Familial Mediterranean Fever – Page 3 of 5 – The Rheumatologist

  https://www.the-rheumatologist.org/article/case-report-a-patient-helps-diagnose-familial-mediterranean-fever/3/

  FMF is a rare, inherited disorder characterized by recurrent bouts of inflammation affecting the abdomen, chest or joints. Episodes last 1272 hours, can vary in severity and are often accompanied by fever, erysipelas-like rash or headache. Although genetic testing for MEFV mutations is preferred when making an FMF diagnosis, the diagnosis remains clinical, because mutations have varying penetrance and homozygosity cannot always be demonstrated. FMF diagnosis can be made using the Tel-Hashomer clinical criteria, in which two or more major symptoms or one major plus two minor symptoms are present. […] As access to genetic testing for FMF expands, identification of biallelic MEFV pathogenic variants can confirm the diagnosis. […] How does the clinician proceed with establishing a diagnosis of FMF when only one allelic variant is present? Although FMF is typically described as an autosomal recessive disorder, it is becoming increasingly well known that up to 30% of patients with FMF have only one detected pathogenic MEFV variant despite sequencing of the entire coding region. […] Testing for FMF yielded heterozygosity for the K695R mutation in pyrin. Although this is a fairly obscure mutation, it is becoming increasingly recognized as associated with a severe clinical phenotype and associated with frequent bouts of arthritis, even when heterozygous.

• #21 Familial Mediterranean Fever Mutation Analysis | Quest Diagnostics

  https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/fammeditfever

  Familial mediterranean fever (FMF) is inherited in an autosomal recessive manner, and two mutations within the MEFV gene are required for symptoms to occur. In most individuals with classic FMF, analysis of the common mutations confirms the diagnosis with the identification of 2 mutations. The sensitivity for detecting 2 mutations varies depending on ethnicity: 70% in Arab populations, 90% in Turkish, Armenian or Ashkenazi Jewish populations, and 95% in North African (Sephardic) Jewish populations. […] In all instances in which the clinical picture is suggestive of FMF and molecular testing is not diagnostic, non-classical mutations in the MEFV gene should be considered as well as other autoinflammatory diseases appropriate to the differential diagnosis. […] If your patient has a clinical diagnosis of FMF, he/she may carry a second MEFV gene mutation not tested for in our panel. Additional mutation testing may be available for your patient at another lab. […] A homozygous result supports a clinical diagnosis of FMF. […] A compound heterozygous result supports a clinical diagnosis of FMF.

• #22 Familial Mediterranean Fever; Recent Advances, Future Prospectives

  https://www.mdpi.com/2075-4418/15/7/813

  The combination of clinical findings and genetic testing increased the sensitivity. […] Although FMF is an autosomal recessive disease, some patients with heterozygous mutations also presented with typical FMF clinical features. […] The E148Q variant is common, of unknown pathogenic significance, and, as the only MEFV variant, does not support the diagnosis of FMF. […] For individuals with two pathogenic mutations for FMF who do not report symptoms, if there are risk factors for AA amyloidosis, close follow-up should be started, and treatment considered.

• #23 Familial Mediterranean fever // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/familial-mediterranean-fever

  Familial Mediterranean fever is typically diagnosed during childhood. […] Tests and procedures used to diagnose familial Mediterranean fever include: […] A family history of FMF increases your likelihood of developing the condition because this genetic change is passed from parents to their children. […] During an attack, blood and urine tests may show elevated levels of certain markers that indicate an inflammatory condition in your body. […] Genetic testing may determine if your MEFV gene contains a gene change that is associated with FMF. […] Genetic tests aren’t advanced enough to test for every gene change that’s linked to FMF, so there is a possibility of false-negative results. […] For this reason, health care providers typically don’t use genetic tests as the sole method of diagnosing FMF.

• #24 Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/79/7/960

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the MEFV gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association for most of the 340 reported MEFV variants. In this study, the authors designed a functional assay and evaluated its potential in supporting FMF diagnosis. […] The functional assay robustly segregated patients with FMF from healthy controls and patients with related clinical disorders. The diagnostic test distinguished patients with classical FMF mutations (M694V, M694I, M680I, R761H) from patients with other MEFV mutations and variants (K695R, P369S, R202Q, E148Q) that are considered benign or of uncertain clinical significance.

• #25 Familial mediterranean fever differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Familial_mediterranean_fever_differential_diagnosis

  Familial mediterranean fever must be differentiated from other diseases that cause fever, fatigue, weight loss, arthralgia, myalgia, rash and soft tissue swelling. […] Familial mediterranean fever (FMF) should be differentiated from other conditions presenting with fever, fatigue, weight loss, arthralgia, myalgia, rash and soft tissue swelling. […] Familial Mediterranean fever […] + + + + + […] Leukocytosis (during acute flares) […] Familial history, MEFV gene analysis.

• #26 Familial Mediterranean Fever – Children’s Health Issues – MSD Manual Consumer Version

  https://www.msdmanuals.com/home/children-s-health-issues/hereditary-periodic-fever-syndromes/familial-mediterranean-fever

  Familial Mediterranean fever is caused by a gene inherited from both parents. […] The diagnosis usually is based on symptoms, but genetic testing is available. […] A doctor usually bases the diagnosis of familial Mediterranean fever on typical symptoms. However, the abdominal pain of familial Mediterranean fever is virtually indistinguishable from that of other abdominal emergencies, particularly a ruptured appendix. […] Blood tests can identify the abnormal gene that causes this disorder and can thus sometimes help with the diagnosis. Because some people with typical familial Mediterranean fever have only one rather than two copies of the gene or occasionally have no detectable mutations in the gene, genetic test results may be negative. In these cases, people should receive genetic counseling and care from specialists who are experienced with familial Mediterranean fever.

• #27 Rare Familial Mediterranean Fever

  https://www.webmd.com/arthritis/familial-mediterranean-fever

  Getting a Diagnosis Your doctor will perform these tests to diagnose FMF: Physical exam. Theyll go over you or your childs symptoms and rule out any other possible causes. Family history. Because this disease is inherited, your doctor will ask if you or anyone in your family have been diagnosed with or had symptoms that suggest it. Blood tests. Your childs blood may show signs of high inflammation, such as high levels of some white blood cells, high erythrocyte sedimentation rate (ESR), or high C-reactive protein (CRP). Urinalysis. High amounts of protein or small amounts of blood in the urine is a sign of kidney problems related to FMF attacks. Genetic test. A DNA test can show if your child has one or two copies of an MEFV gene mutation. But there are hundreds of possible mutations to MEFV, so its possible that a genetic test could be false-negative. […] Dont delay diagnosis. Be sure to get a prompt, confirmed diagnosis of FMF. Children with severe abdominal pains may be misdiagnosed with appendicitis and have unnecessary surgery.

• #28 Familial Mediterranean Fever: Causes, Diagnosis, and Treatment

  https://www.verywellhealth.com/familial-mediterranean-fever-4159712

  The diagnosis of FMF is largely based on the history and pattern of the attacks. Key to the identification of the disease is the duration of the attacks, which is rarely longer than three days. […] Blood tests may be ordered to evaluate the type and level of inflammation being experienced. These include: Complete blood count (CBC) (used to detect an increase in defensive white blood cells) […] Based on these results, the healthcare provider may order a genetic test to confirm the MEFV mutation. In addition, the practitioner may recommend a provocation test in which a drug called metaraminol can induce a milder form of FMF, usually within 48 hours of an injection. A positive result can provide the healthcare provider with a high level of confidence in making the FMF diagnosis.

• #29 Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic | Genetics in Medicine

  https://www.nature.com/articles/gim9201147

  These clinical, historical, and laboratory findings are usually sufficient to make the presumptive diagnosis of FMF. […] Molecular genetic testing comprises different testing strategies depending on the ethnicity of the patient involved and the clinical situation. […] Diagnostic molecular testing is used to provide a confirmation of the FMF diagnosis as it is obviously more specific than the other laboratory analytes such as erythrocyte-sedimentation rate and C-reactive protein. […] In the event that two mutations are not detected by either targeted mutation analysis or full gene sequencing in an individual with high clinical suspicion for FMF, another helpful diagnostic option is a 46-month trial of colchicine therapy to ascertain whether there is a decrease in frequency and severity of attacks.

• #30 Familial Mediterranean fever: kids & teens | Raising Children Network

  https://raisingchildren.net.au/guides/a-z-health-reference/familial-mediterranean-fever

  Familial Mediterranean fever is a genetic condition that causes fevers and inflammation in various parts of the body. […] Your GP will usually make a diagnosis by looking at your child’s symptoms and examining your child. They might also organise blood tests. […] The GP will look at familial Mediterranean fever as a diagnosis only if there isn’t another explanation for the symptoms. This is because familial Mediterranean fever is a rare condition. […] In some cases your child might be given the medicine colchicine for 3-6 months as a test. If your child’s symptoms are less frequent while they’re taking colchicine, the doctor might consider familial Mediterranean fever as a diagnosis. […] Your child can have genetic testing for familial Mediterranean fever, but it might not pick up all cases.

• #31 Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/79/7/960

  The ex vivo colchicine assay may support diagnosis of FMF and functional subtyping of Pyrin-associated autoinflammation. […] The study reports and validates a functional diagnostic test that discriminates FMF over healthy controls and related AIDs. The ex vivo colchicine test identifies two mechanistic subtypes of Pyrin-associated AID. […] The test may help to expedite FMF diagnosis and timely initiation of colchicine therapy.

• #32 A plasmonic biosensor pre-diagnostic tool for Familial Mediterranean Fever | Nature Communications

  https://www.nature.com/articles/s41467-024-52961-8

  Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder, primarily observed in populations around the Mediterranean Sea, linked to MEFV gene mutations. Traditional diagnosis relies on clinical symptoms, family history, acute phase reactants, and excluding similar syndromes with MEFV testing, which is expensive and often inconclusive due to heterozygous mutations. Here, we present a biosensor platform that detects differences in pyrin-protein levels between healthy and affected individuals, offering a cost-effective alternative to genetic testing. Our technology will enhance FMF diagnosis accuracy, enabling early treatment initiation and providing a cost-effective alternative to genetic testing, thus improving patient care. […] Currently, there is no specific laboratory test available that allows for a definitive diagnosis of FMF. The diagnosis of FMF relies on clinical symptoms, family history, evaluation of acute phase tests, response to treatment, exclusion of other familial periodic fever syndromes, and genetic laboratory data. Genetic tests targeting the MEFV gene serve as the definitive diagnostic criterion for FMF. However, these tests are time-consuming, require complex and costly preparation steps, and necessitate sophisticated infrastructure. Despite the advantages of this diagnostic method in addressing an important disease, the lengthy duration of genetic analyses is a major obstacle for physicians aiming to use these analyses to promptly identify FMF and initiate timely treatment.

• #33 A plasmonic biosensor pre-diagnostic tool for Familial Mediterranean Fever | Nature Communications

  https://www.nature.com/articles/s41467-024-52961-8

  FMF diagnosis is established primarily through the assessment of clinical symptoms. However, genetic screening is considered indispensable to both confirm the diagnosis and distinguish it from other akin conditions in the presence of patients exhibiting atypical or incomplete clinical presentations. This would enable physicians to start treatment prior to receiving the genetic test results. […] Recognizing the distinct difference in pyrin protein levels between healthy individuals and those with FMF, in this article, we introduce a plasmonic biosensor for the preliminary diagnosis of FMF. The biosensor platform effectively detects and quantifies the amount of pyrin protein in clinical blood samples using highly sensitive plasmonic substrates. The limit of detection achieved for pyrin protein is 0.24ng/mL. Our biosensor platform was designed, calibrated, and tested using FMF- and FMF+ blood samples, demonstrating its potential as a clinical tool for the preliminary diagnosis of FMF.

• #34 Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic | Genetics in Medicine

  https://www.nature.com/articles/gim9201147

  Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. […] These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. […] We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. […] As FMF is an episodic disease found primarily in individuals of Mediterranean descent, the patient’s medical history, family history, ethnicity, and physical examination findings are the most salient entities.

• #35 Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic | Genetics in Medicine

  https://www.nature.com/articles/gim9201147

  The interdisciplinary nature of the clinic is further enhanced by the presence of Dr. Claire Panosian, representing the subspecialty of Infectious Disease (which is often invoked in the differential diagnosis of FMF), along with ready access to rheumatologists who share the same clinic space. […] It should be evident from the foregoing discussion just how many difficult issues come up in the diagnosis and management of FMF that can be addressed uniquely by geneticists.

• #36 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Familial-Mediterranean-Fever-Diagnosis-and-Management.aspx

  The management of FMF is directed at The treatment of acute attacks, preventing recurrences, and suppression of chronic inflammation to prevent complications from emerging. […] The drug most typically used for prevention of chronic disease and suppression of recurrences is colchicine, a mitosis inhibitor, but other cytokine inhibitors and anti-inflammatory drugs may also be effective. […] Genetic counseling is recommended for individuals and families following the diagnosis. […] […] […] In a typical FMF attack, there are three or more bouts of fever (recurrent fever) 38oC, lasting 12 hours to 3 days. […] In an incomplete attack, there is recurrent fever that is low-grade (elevated temperature but less than 38oC), or has a different duration from the typical attack, or fulfils both criteria. However, it should last not less than 6 hours and not more than 7 days.

• #37 Orphanet: Familial Mediterranean fever

  https://www.orpha.net/en/disease/detail/342

  Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. […] The Tel-Hashomer criteria states that 2 major criteria (fever and serositis, amyloidosis AA, effectiveness of colchicine) or 1 major and 2 minor criteria (recurrent attacks of fever, erysipela-like erythema, relatives affected by FMF) must be present for diagnosis. Genetic testing only has a 70-80 % positive predictive value. […] FMF follows an autosomal recessive pattern of inheritance. Genetic counseling for parents with an MEFV mutation can inform them of their risk of passing it on to their children.

• #38 What is FMF? – Familial Mediterranean Fever Foundation

  https://fmffoundation.org/do-you-have-fmf/

  FMF is a generally treatable disorder in which most patients can attain a high degree of symptom control and quality of life. The highest hurdle, however, is the first one: an accurate diagnosis. FMF must be correctly diagnosed to be correctly treated. Because of its rarity, the medical community has a low awareness of it and it is common for patients to have a long history of misdiagnosis (and in many cases unnecessary surgery) before the correct diagnosis is found.

• #39 Familial Mediterranean Fever (FMF): Mysterious Presentations and Challenging Points From Diagnosis to Management in Acute Care Settings; A Literature Review

  https://www.ijtmgh.com/article_99212.html

  Familial Mediterranean fever (FMF) is an autosomal recessive disease considered to be the most common entity of a rare group of disorders known as auto-inflammatory syndromes which have acute presentations in emergency settings. […] Given the various symptoms and the multiplicity of differential diagnoses, physicians may easily miss diagnosing FMF. Accordingly, emergency medical staff must be trained in order to significantly reduce the number of medical errors and economic costs and to improve the quality of life of involved patients. […] Although FMF is already known to be an inflammatory entity, more study and investigation of it is required. There is an educational gap in both medical and general populations that should be filled by using new genetic testing and providing appropriate social and medical education.

• #40 Path to Diagnosis in Familial Mediterranean Fever (FMF) – ACR Meeting Abstracts

  https://acrabstracts.org/abstract/path-to-diagnosis-in-familial-mediterranean-fever-fmf/

  Regarding referrals, 47.5% were referred to another specialty, while 52.5% were not. Among the participants, 25.9% were initially referred to rheumatology. 46.5% did not receive any initial referral. […] In the initial consultation with the rheumatologist, 59.8% received an FMF diagnosis and started colchicine treatment with a follow-up appointment scheduled. […] 38.9% waited between 1 to 5 years from the onset of initial symptoms to their diagnosis by the rheumatologist for FMF. […] Following the diagnosis of FMF, 31.9% of patients continued their follow-up with the doctor who initially diagnosed them, while 68.1% did not continue with the diagnosis doctor. […] After receiving a diagnosis of FMF, treatment for FMF typically started within one day for 68.6% of patients, 14.0% began treatment within 1-2 weeks, 6.6% within 1 month, 3.7% within 1-3 months, and 7.0% started treatment after 3 months or more.

• #41 Path to Diagnosis in Familial Mediterranean Fever (FMF) – ACR Meeting Abstracts

  https://acrabstracts.org/abstract/path-to-diagnosis-in-familial-mediterranean-fever-fmf/

  Path to Diagnosis in Familial Mediterranean Fever (FMF) […] Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent febrile episodes and inflammation, most commonly presenting with peritonitis, pleuritis, and arthritis. The study investigates the varied pathways to FMF, exploring the duration from symptom onset and diagnostic processes among a cohort of participants. […] This study involved surveying patients at an autoinflammatory clinic to explore the diagnostic pathways leading to the identification of FMF. […] A sample of 300 patients with a mean age of 38.2 years ( 12.2 years, range 16-72), consisting of 209 males and 92 females was examined. […] Before their FMF diagnosis, patients consulted various specialties: 38.9% with internal medicine, 18.9% with pediatrics, and 15.3% with emergency medicine. Additionally, 26.7% consulted other departments.

Zobacz więcej