Materiały źródłowe

• #1 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

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

  Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever and serositis (chest, abdomen, joints), leading to painful attacks early during childhood. […] Early initiation with colchicine leads to improvement in the attacks and prevent amyloidosis. […] 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. […] Outline the importance of collaboration and coordination among the healthcare team to promptly diagnose and treat familial Mediterranean fever to improve patient outcomes. […] This chapter is aimed at presenting etiology, epidemiology, clinical features, and management of FMF. Moreover, the importance of collaboration and coordination among the healthcare team to promptly diagnose and treat the disease to improve patient outcomes is highlighted.

• #1 Management of familial Mediterranean fever – UpToDate

  https://www.uptodate.com/contents/management-of-familial-mediterranean-fever

  Management of familial Mediterranean fever […] Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent bouts of fever and serosal inflammation. Its major complication is the insidious development of secondary (AA) amyloidosis with eventual kidney failure in uncontrolled patients. This topic will review the management of FMF. […] The goals of therapy for familial Mediterranean fever (FMF) are to prevent acute attacks and minimize subclinical inflammation in between attacks. Controlling inflammation even during asymptomatic intervals can prevent the development and progression of secondary (AA) amyloidosis.

• #1 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

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

  The treatment with colchicine is usually lifelong. […] Compliance with the treatment must be addressed strongly to the patients since it is a common cause of lack of response to the therapy. […] The biggest challenge for the interprofessional health team in the case of FMF is to reach a diagnostic conclusion which might take a fair amount of time. […] The team of clinicians, nurses, and pharmacists should all work closely with patients with FMF while initiating therapy with colchicine and assist patients in every possible way to help overcome its side effects and improve compliance.

• #1 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. Taking an oral medication called colchicine can effectively prevent or reduce these episodes. Most people with FMF have to take it daily for life. […] Early diagnosis and treatment can help reduce your symptoms and prevent potential long-term complications, like amyloidosis. […] 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. […] While there’s no cure, medication can effectively manage familial Mediterranean fever. Many people stop having inflammatory episodes with medication. Others have fewer, milder ones. You’ll have to continue taking it regularly for it to work, even when you’re not having symptoms. Medication can’t stop an episode that’s already happening it can only work to prevent them from happening.

• #1 Familial Mediterranean Fever Guidelines: Guidelines Summary

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

  Ideally, FMF should be diagnosed and initially treated by a physician with experience in FMF; after diagnosis and initiation of therapy, patients can also be followed by their primary care physician in conjunction with the referral center, but if possible, patients should be seen by a physician with experience of FMF at least once per year in the long term. […] The ultimate goal of treatment in FMF is to obtain complete control of unprovoked attacks and minimize subclinical inflammation between attacks. […] Treatment with colchicine should be started as soon as a clinical diagnosis is made. […] Colchicine can be given in single or divided doses, depending on tolerance and compliance. […] Persistent attacks or subclinical inflammation represent an indication to increase the colchicine dose.

• #1 EULAR recommendations for the management of familial Mediterranean fever | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/75/4/644

  Colchicine is very efficacious in preventing FMF attacks and associated amyloidosis. […] A starting dose of 0.5mg/day (0.6mg/day in case tablets contain 0.6mg) for children 5years of age, 0.51.0mg/day (1.2mg/day in case tablets contain 0.6mg) for children 510years of age, 1.01.5mg/day (1.8mg/day in case tablets contain 0.6mg) in children 10years of age and in adults is recommended. […] The persistence of attacks or subclinical inflammation represents an indication to increase colchicine dose. […] If inflammation persists despite adherence to the advised initial dose of colchicine, as defined by continuing attacks or elevated APR between attacks, colchicine dose may be increased by 0.5mg/day (or 0.6mg/day depending on the available drug formulation) with careful monitoring of side effects.

• #1 Familial Mediterranean Fever Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Colchicine is so effective in preventing attacks of familial Mediterranean fever (FMF) and preventing the development of amyloidosis that the most important aspects of medical care are to make the correct diagnosis and to institute therapy. […] Administer colchicine therapy daily in patients at risk of developing amyloidosis (eg, North African Jewish people, Turkish people, Armenian people living in Armenia). Other Sephardic Jewish people and Arabic people are at lower risk but also probably require daily colchicine therapy. […] After colchicine has been started, EULAR recommends following patients closely for 36 months to observe the therapeutic effect. […] In patients who do not respond to twice-a-day dosing, administer colchicine three, or even four, times a day. […] In patients who have difficulty tolerating colchicine, start therapy at once-a-day dosing and gradually increase the dose.

• #1 Familial Mediterranean Fever Guidelines: Guidelines Summary

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

  Compliant patients who continue to have one or more attacks each month despite receiving the maximally tolerated dose of colchicine for at least 6 months can be considered nonresponders or resistant; alternative biological treatments are indicated in these patients; colchicine should be coadministered with biological therapies, as it may reduce the risk of amyloidosis despite persistence of attacks. […] FMF treatment needs to be intensified in AA amyloidosis, using the maximal tolerated dose of colchicine and supplemented with biologics as required. […] Periods of physical or emotional stress can trigger FMF attacks, and it may be worth temporarily increasing the dose of colchicine. […] Response, toxicity, and compliance should be monitored every 6 months. […] Liver enzymes should be monitored regularly in patients with FMF treated with colchicine; if elevations greater than twofold the upper limit of normal occur, the colchicine dose should be reduced and the cause further investigated.

• #1 Familial Mediterranean Fever Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Patients who have an inadequate response to colchicine but who cannot afford biologic agents may benefit from the addition of dapsone to colchicine. […] In patients whose conditions do not respond to colchicine, biologic therapy in particular, agents directed toward interleukin-1 (IL-1) may be effective. […] A systematic review found that in patients who do not respond to colchicine or cannot tolerate it, anti-IL-1 treatment resulted in a complete response to therapy, without a single attack during treatment, in 76.5% of patients treated with anakinra and 67.5% of those treated with canakinumab. […] Patients with familial Mediterranean fever (FMF) should be seen regularly to ensure compliance with therapy. […] Teenagers are typically a noncompliant group and need long-term daily therapy to prevent chronic complications. […] Communicating with patients’ pharmacies to determine how often they are obtaining refills may be the best way to assess compliance.

• #1 Familial Mediterranean Fever – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/familial-mediterranean-fever/

  Patients should be seen frequently when first diagnosed and when therapy is initiated. This typically would be every few weeks for the first couple of months. When patients are stabilized and attacks have become infrequent, follow-up frequency may be reduced to every 3-6 months. […] Colchicine, either twice daily or intermittently for acute attacks, is the mainstay of therapy. Therapy should be altered if colchicine is not tolerated due to side effects (i.e. abdominal pain, nausea, vomiting, fatigue, headache, etc.). Rarely, bone marrow suppression, myopathy, rhabdomyolysis, nephrotoxicity, hepatotoxicity, or hypersensitivity reactions have been reported. Although colchicine is generally an effective therapy for FMF, other agents, such as interferon alpha, etanercept, and anakinra, have been reported to be helpful.

• #1 EULAR recommendations for the management of familial Mediterranean fever | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/75/4/644

  Patients who continue to have one or more attacks each month despite receiving the maximally tolerated dose for at least 6months may be considered to be a non-responder or resistant to colchicine, although compliance to treatment must be affirmed. […] Evidence for therapeutic options for patients resistant or intolerant to colchicine is limited, but case reports and case series have suggested that IL-1 blockade is a promising second-line therapy. […] AA amyloidosis is the most serious complication of uncontrolled FMF, resulting in renal failure and early death. […] The development of amyloidosis can be prevented in most patients by suppressing chronic inflammatory activity with the measures already discussed. […] Efforts in individual patients to identify factors that trigger attacks may help to prevent or reduce them. […] Recognised trigger factors include physical or emotional stress, menstruation, physical trauma, exposure to cold, infections, inflammation, high fat intake, starvation, sleeplessness and tiredness.

• #1 Familial Mediterranean Fever Treatment & Management: Medical Care, Surgical Care, Consultations

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

  In patients whose conditions were not responsive to oral colchicine, the addition of intravenous (IV) dosing 1 mg IV once a week reduced the number of attacks in 10 of 13 patients and the severity of attacks in 6 of 13 patients. […] Colchicine also stabilizes the amount of proteinuria in patients with amyloid nephropathy. […] Kidney disease may resolve in patients with a creatinine level of less than 1.5 mg/dL who are treated with 1.5 mg/d of colchicine. […] If attacks are rare and patients can determine when they are beginning, treatment with intermittent colchicine therapy at the onset of attacks may be sufficient. […] The regimen for acute attacks in patients not taking daily colchicine is 0.6 mg every hour for 4 doses, then 0.6 mg every 2 hours for 2 doses and then 0.6 mg every 12 hours for 4 doses.

• #1 Familial Mediterranean Fever Guidelines: Guidelines Summary

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

  In patients with decreased renal function, the risk of colchicine toxicity is very high, so evidence of toxicity should routinely be sought and if found, the colchicine dose should be reduced accordingly. […] Colchicine toxicity is a serious complication that should be given adequate consideration and be prevented; potential causes include exceeding the recommended dose (maximum recommended oral doses for treatment of FMF are 3 mg daily in adults and 2 mg daily in children), liver or renal failure, and concomitant administration of other drugs metabolized by cytochrome 3A4. […] If an attack is suspected, always consider other possible causes; during attacks, continue the usual dose of colchicine and use nonsteroidal anti-inflammatory drugs (NSAIDs). […] Colchicine should not be discontinued during conception, pregnancy, or lactation; current evidence does not justify amniocentesis.

• #1 Familial Mediterranean Fever – Children’s Health Issues – Merck Manual Consumer Version

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

  Familial Mediterranean fever is a hereditary disorder characterized by episodes of high fever with abdominal pain or, less commonly, chest pain, joint pain, or a rash. […] Colchicine is taken to reduce or eliminate the number of painful attacks and eliminate the risk of kidney failure due to amyloidosis. […] Taking colchicine daily by mouth eliminates or greatly reduces the number of painful attacks in about 95% of people. Also, colchicine greatly reduces the risk of kidney failure due to amyloidosis. In pregnant women, colchicine helps prevent attacks that might lead to a miscarriage. […] If colchicine stops working or people are not able to tolerate it, other medications such as canakinumab, anakinra, or rilonacept, injected under the skin, may help. These medications modify how the immune system functions and thus help reduce inflammation. […] Ibuprofen or acetaminophen can be given to relieve pain and fever.

• #1 Familial Mediterranean Fever Guidelines: Guidelines Summary

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

  In general, men need not stop colchicine prior to conception; in the rare case of azoospermia or oligospermia proven to be related to colchicine, temporary dose reduction or discontinuation may be required. […] Chronic arthritis in a patient with FMF might need additional medications, such as disease-modifying antirheumatic drugs (DMARDs), intra-articular steroid injections, or biologics. […] If a patient is stable, with no attacks for more than 5 years and no elevation in acute phase reactants (eg, serum amyloid A protein, C-reactive protein), dose reduction could be considered after expert consultation and with continued monitoring.

• #1 Pregnancy Outcome in Women With Familial Mediterranean Fever: A Retrospective Analysis of 50 Cases With a 10-Year Experience | Volume 29 – Issue 2 – June 2014 | Archives of Rheumatology

  https://archivesofrheumatology.org/full-text/567

  A favorable pregnancy and perinatal outcome may be expected in patients with FMF treated with colchicine. […] However, close followup with prenatal test and laboratory investigations for maternal and fetal well-being including hypercoagulation disorders are thought to be essential. […] In our study population, the courses of pregnancies were variable, all were attack-free but one had cerebrovascular accident as a result of FMF-related vasculitis and the other needed daily hemodialysis (and sepsis) due amyloidosis-related end stage renal disease. […] In order to achieve a final conclusion, more comprehensive studies consisting of larger study groups are needed. […] Due to the subclinical inflammation leading to a hypercoagulable state, we recommend searching for thrombophilia and giving appropriate anticoagulant prophylaxis during the course of pregnancy. […] Furthermore, close follow-up with prenatal test and laboratory investigations for maternal and fetal well-being are suggested to be essential.

• #1 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. […] During acute episodes, non-steroidal anti-inflammatory drugs (NSAIDs) and other pain relieving medications are used to alleviate fever, pain, inflammation, and joint and muscle pain. […] Genetic counseling is recommended for individuals and families following the diagnosis. […] Educating yourself about the disease helps make better treatment decisions, in consultation with your healthcare provider. […] Also, finding someone who will support you as you express your inner feelings about the disease is an important coping strategy, whether it be a friend or family member, a professional therapist, or a support group nearby.

• #1 Familial Mediterranean fever // Middlesex Health

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

  There’s no cure for familial Mediterranean fever. However, treatment can help relieve symptoms, prevent attacks and prevent complications caused by inflammation. […] Medications used to relieve symptoms and prevent attacks of FMF include: […] Colchicine (Colcrys), taken in pill form, reduces inflammation in your body and helps prevent attacks and the development of amyloidosis. Work with your doctor to determine the best dosing strategy for you. Some people take one dose a day, while others need smaller, more-frequent doses. Common side effects include abdominal pain, nausea and diarrhea. Treatment is generally lifelong. […] Regular appointments with your health care provider are important to monitor your medications and your health. […] Learning that you or your child has a chronic illness, such as familial Mediterranean fever, can be upsetting and frustrating. Here are some tips that may help you cope:

• #1 Familial Mediterranean fever // Middlesex Health

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

  Find someone to talk with. Talking to a family member, trusted friend, or a counselor or therapist can allow you to express your fears and frustrations. Some people also find support groups helpful because members truly understand what you’re going through. Ask your health care provider if there is a support group for people who have FMF in your area. […] If you have signs and symptoms of familial Mediterranean fever, you may begin by seeing your family health care provider. Your health care provider may refer you to a specialist in inflammatory diseases (rheumatologist). […] Regular appointments with your health care provider are important to monitor your medications and your health.

• #1 EULAR recommendations for the management of familial Mediterranean fever | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/75/4/644

  Colchicine should not be discontinued during conception, pregnancy or lactation; current evidence does not justify amniocentesis. […] Patients need to be informed about the safety of colchicine treatment during conception, pregnancy and breast feeding. […] Chronic arthritis in a patient with FMF might need additional medications, such as disease modifying antirheumatic drugs (DMARDs), intra-articular steroid injections or biologics. […] Approximately 5% of patients with FMF develop chronic joint involvement, the majority resembling spondyloarthritis with sacroiliitis and peripheral monoarthritis or oligoarthritis. […] If a patient is stable with no attacks for more than 5years and no elevated APR, dose reduction could be considered after expert consultation and with continued monitoring. […] Colchicine-free remission in patients with FMF has been observed, usually among patients who hitherto had mild disease and have mutations associated with mild disease or with low penetrance.

• #1 Treat-to-target strategies for the management of familial Mediterranean Fever in children | Pediatric Rheumatology | Full Text

  https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-023-00875-y

  The treat-to-target (T2T) concept introduces treatment escalation and de-escalation depending on the achievement of numerical therapeutic targets. […] The aim of this initiative was to develop a T2T approach for the treatment of FMF that (i) unifies the plethora of available disease activity scores in the form of a multidimensional treatment target and (ii) takes into account the recent emergence of novel therapeutic agents. […] The proposed consensus treatment plan for the management of FMF incorporates multidimensional targets allowing transparent treatment decisions, which will promote personalised disease management and increase adherence to therapy.

• #1 Treat-to-target strategies for the management of familial Mediterranean Fever in children | Pediatric Rheumatology | Full Text

  https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-023-00875-y

  The objective of this initiative was to develop a treat-to-target (T2T) approach for the management of patients with Familial Mediterranean Fever (FMF), including the definition of a complex treatment target, and establish strategies that improve patient care and long-term outcome. […] Colchicine represents the mainstay of FMF therapy and its efficacy in preventing attacks and the occurrence of amyloidosis has been shown in clinical trials and large cohort studies. […] The continuous life-long colchicine application resolves symptoms in up to 2/3 of patients, in up to 1/3 of patients this therapy significantly improves clinical symptoms and systemic inflammation. […] The emergence of the newly approved IL-1 antagonists canakinumab and anakinra as well as experience with other drugs in specific treatment scenarios are expanding the therapeutic options in FMF.

• #1 “Reality of living with familial mediterranean fever identity”: A phenomenological study – Gulhane Medical Journal

  https://gulhanemedj.org/articles/reality-of-living-with-familial-mediterranean-fever-identity-a-phenomenological-study/doi/gulhane.00051

  Aims: This phenomenological study was carried out to explore and describe FMF patients (n=15) life experiences and coping behaviors. […] Results: Data analysis brought out three categories; (1) Living with an unnamed disease, (2) Living with FMF identity, (3) Coping with FMF symptoms. Until being diagnosed with FMF, the patients have been had to live with the symptoms of an unnamed disease. After diagnosis, they try to adapt to FMF identity, which means unexpected recurrent attacks with physical effects, loss of social roles and functions, stigmatization and feelings of guilt. They try to continue their treatment and follow-up with the desire to maintain a healthy life and to cope with FMF. […] Conclusions: This study presents how patients experience living with an unnamed disease before being diagnosed, living with FMF identity and coping with FMF symptoms. Findings demonstrated that most of the troubles patients lived were related to the pain during the attacks and resultant limitations. This study shows what really matter for FMF patients and how they try to compete with long-term distress.

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

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

  Treatment of FMF is centered on prevention of painful attacks and the development of amyloidosis. […] Colchicine is the gold standard and indeed the only recommended drug for treating FMF. […] It is crucial to drive home to patients (or their parents) that daily lifelong administration of colchicine is required to prevent both the fever/pain attacks and the silent amyloid deposition. […] Once patients are under good control on long-term colchicine therapy, we only require that they be evaluated by a physician annually and undergo a spot urinalysis for protein measurement and urine albumin to creatinine ratio (which we would expect to be negative). […] FMF represents an ideal model disease for this type of integrated subspecialty approach, harnessing the expertise of medical genetics, gastroenterology, rheumatology, and other multidisciplinary involvement for appropriate medical management and activism, especially as it is an eminently treatable condition.

• #1 What is Familial Mediterranean Fever? Genetic disorder causes painful inflammation | UCLA Health

  https://www.uclahealth.org/news/article/familial-mediterranean-fever-program

  Baby Alexander cried so much sometimes all night that neighbors complained. As a toddler, he pointed to the pain in his stomach and also said his legs hurt. He ran high fevers. The symptoms recurred every two to three months and subsided after three days. […] Around the time Alexander was four years old, Marfazelian was working as an inpatient gastroenterology nurse practitioner. There she encountered a patient with similar symptoms as her son, whose condition was diagnosed. […] The Familial Mediterranean Fever Program is the only one in the Western Hemisphere dedicated to the autoinflammatory condition. Patients with undiagnosed FMF may periodically suffer for years from excruciating abdominal pain, fever and painful inflammation in other parts of the body such as the joints and the chest. Without treatment, there is a risk of developing amyloidosis, which can lead to kidney failure.

• #1 What is Familial Mediterranean Fever? Genetic disorder causes painful inflammation | UCLA Health

  https://www.uclahealth.org/news/article/familial-mediterranean-fever-program

  After a long and thorough consultation, Dr. Grody, an attending physician in the department of pediatrics, prescribed a daily pill of colchicine. Now 8 years old, Alexanders attacks have mostly stopped, except for breakthrough flares brought on by stress or rigorous physical activity. […] There’s no cure for this so it’s going to be lifelong for him. […] I have the trainees present the patient in front of the patient, said Dr. Getzug, and all together we discuss what’s going on, involving the patient in the discussion. They really feel heard and taken seriously. And for a lot of them that’s never happened. […] Also providing reassurance to the patient anxious about medication was Nazeli Khodaverdyan, 22, a volunteer in the clinic and fourth-year UCLA student who relied on colchicine for years until it was no longer effective in preventing attacks.

• #1 Familial Mediterranean Fever

  https://rheumatology.org/patients/familial-mediterranean-fever

  Familial Mediterranean Fever (FMF) is a non-infectious genetic disorder manifested by episodic fevers typically accompanied by pain in the abdomen, joints, or chest. Lifelong treatment to control inflammation may prevent injury to organs. […] Colchicine taken by mouth one to two times a day for life helps control FMF. […] Children with FMF, if treated properly, can lead normal lives. To prevent FMF symptoms, take colchicine as prescribed without skipping doses. Some children may need psychological support to cope with having a chronic illness that requires lifelong treatment. […] With regular treatment, children with FMF can stay active, pursue their education and lead productive adult lives.

• #1 Familial Mediterranean fever (FMF)

  https://www.aboutkidshealth.ca/familial-mediterranean-fever-fmf

  FMF can be treated and controlled with a medication called colchicine. […] Taking colchicine every day reduces the frequency of the attacks as well as the severity of the attacks that do occur, and therefore prevents the development of amyloidosis. […] Your child may be referred to a rheumatology clinic for follow-up care. Usually, a rheumatology clinic will have a team of doctors and nurses who have a lot of experience treating children with FMF. […] Your child may need a blood test during a clinic visit. This will help doctors monitor the disease. Blood tests also help check for side effects of the medicine your child may be taking.

• #1 Rare Familial Mediterranean Fever

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

  Taking Care of Your Child Your child may need emotional support or counseling when theyre diagnosed and learn that they have to take medicine every day for life. If your childs fevers keep them out of school or social activities, it may be upsetting. […] Tell your childs school principal, teachers, and counselors that your child has been diagnosed with FMF so they can be aware of symptoms and help them keep up with schoolwork if they have to stay home for a few days. […] What to Expect Having FMF means you must take your medication for life to prevent flares and control inflammation. Make sure you or your child takes the medication on schedule. With treatment, you can have a normal, full life with FMF. […] Getting Support Living with FMF or any lifelong disease can be stressful. You may be upset that youve passed a gene mutation to your children. Here are some tips to help you or your child cope: Check out online support groups for people with autoinflammatory diseases like FMF, such as rareconnect.org. Learn more about FMF. Ask your doctor questions about your childs diagnosis and to suggest resources to help you and your family manage any stress you feel. Reach out for help when you need it. Ask family members or friends to help you with tasks when youre caring for your child during fever episodes. Find someone you trust to talk to when you just need to vent.

• #1 Familial Mediterranean Fever – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/familial-mediterranean-fever/

  The key information that must be relayed to patients and families is that FMF is an autosomal recessive condition. Therefore, patients with FMF will pass on a mutated copy of the MEFV gene to offspring, but children will only be affected if they have also inherited a mutated MEFV gene from the other parent. It is important to emphasize that patients should be under regular follow-up, even if symptoms are well controlled, so that they can be monitored closely for any signs of amyloidosis. […] The prognosis has become very good since the introduction of colchicine for FMF. Genetic testing is generally recommended for symptomatic individuals, rather than asymptomatic first-degree relatives. The key take-home message is that, since the introduction of colchicine, the prognosis for patients with FMF is excellent.

• #1 Familial Mediterranean Fever

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

  Familial Mediterranean Fever (FMF) is an inherited condition that causes repeated attacks of painful inflammation in the abdomen, chest or joints. […] Without treatment, protein deposits (called amyloids) may accumulate in the body’s organs and tissues. […] There is no cure for FMF. People who have mild symptoms may not need treatment but should have their urine checked for protein every six months. Symptoms can be controlled and prevented with colchicine, a daily oral medication. […] With early diagnosis and treatment, most people with FMF can lead normal lives. A healthy lifestyle that includes a nutritious diet, exercise, weight control, and stress relief can help manage pain and maintain overall heath.

• #2 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. […] Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. […] 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.

• #2 Treat-to-target strategies for the management of familial Mediterranean Fever in children

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10521475/

  The objective of this initiative was to develop a treat-to-target (T2T) approach for the management of patients with Familial Mediterranean Fever (FMF), including the definition of a complex treatment target, and establish strategies that improve patient care and long-term outcome. […] This T2T initiative yielded a total of 26 statements guiding FMF management with respect to diagnosis, treatment targets, treatment strategies and monitoring. […] The proposed consensus treatment plan for the management of FMF incorporates multidimensional targets allowing transparent treatment decisions, which will promote personalised disease management and increase adherence to therapy. […] The aim of this initiative was to develop a T2T approach for the treatment of FMF that (i) unifies the plethora of available disease activity scores in the form of a multidimensional treatment target and (ii) takes into account the recent emergence of novel therapeutic agents.

• #2 Familial Mediterranean Fever – Digestive Diseases | UCLA Health

  https://www.uclahealth.org/medical-services/gastro/clinical-programs/familial-mediterranean-fever

  The Familial Mediterranean fever (FMF) Program is a diagnostic and treatment clinic and is the only program of its kind in the Western hemisphere. […] Colchicine, a drug used to treat gout (a form of arthritis), is the first-line treatment. It prevents these disabling attacks in more than 90% of patients and prevents amyloidosis. […] Besides diagnosis and treatment of FMF, another primary goal of the clinic is the education of medical students, residents, and fellows; patients and their families; and the medical and lay communities at large.

• #2 Familial Mediterranean Fever Guidelines: Guidelines Summary

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

  In patients with decreased renal function, the risk of colchicine toxicity is very high, so evidence of toxicity should routinely be sought and if found, the colchicine dose should be reduced accordingly. […] Colchicine toxicity is a serious complication that should be given adequate consideration and be prevented; potential causes include exceeding the recommended dose (maximum recommended oral doses for treatment of FMF are 3 mg daily in adults and 2 mg daily in children), liver or renal failure, and concomitant administration of other drugs metabolized by cytochrome 3A4. […] If an attack is suspected, always consider other possible causes; during attacks, continue the usual dose of colchicine and use nonsteroidal anti-inflammatory drugs (NSAIDs). […] Colchicine should not be discontinued during conception, pregnancy, or lactation; current evidence does not justify amniocentesis.

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

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

  There’s no cure for familial Mediterranean fever. However, treatment can help relieve symptoms, prevent attacks and prevent complications caused by inflammation. […] Medications used to relieve symptoms and prevent attacks of FMF include: […] Colchicine is effective in preventing attacks for most people. To lessen the severity of symptoms during an attack, your health care provider may recommend intravenous fluids and medications to reduce fever and inflammation and control pain. […] Regular appointments with your health care provider are important to monitor your medications and your health. […] Learning that you or your child has a chronic illness, such as familial Mediterranean fever, can be upsetting and frustrating. Here are some tips that may help you cope: […] Find someone to talk with. Talking to a family member, trusted friend, or a counselor or therapist can allow you to express your fears and frustrations. Some people also find support groups helpful because members truly understand what you’re going through. Ask your health care provider if there is a support group for people who have FMF in your area. […] Your health care provider is likely to ask you a number of questions, including: […] Do you have blood relatives with familial Mediterranean fever?

Zobacz więcej