Materiały źródłowe

• #1 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  Familial Mediterranean fever is inherited in an autosomal recessive manner. There are two phenotypes: types 1 and 2. Familial Mediterranean fever type 1 is characterized by recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication. Familial Mediterranean fever type 2 is characterized by amyloidosis as the first clinical manifestation of familial Mediterranean fever in an otherwise asymptomatic individual. […] FMF is divided into two phenotypes, types 1 and 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication of FMF type 1. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of disease in an otherwise asymptomatic individual.

• #2 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #3 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. […] Symptoms frequently start before 20years of age and are characterized by a more severe phenotype in patients who begin earlier. […] Attacks consist of fever, serositis, arthritis and high levels of inflammatory reactants: C-reactive protein, erythrocyte sedimentation rate, serum amyloid A associated with leucocytosis and neutrophilia. The symptom-free intervals are of different length. […] The attacks of Familial Mediterranean Fever can have a trigger, as infections, stress, menses, exposure to cold, fat-rich food, drugs.

• #4 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. The first attack frequently occurs in childhood, and it usually begins before the age of 20 years. All attacks develop over 2 to 4 hours and last anywhere from 6 hours to 4 days. The symptoms develop over 2 to 4 hours and last for about 12 to 72 hours. Patients feel normal between attacks. The severity of attacks may vary each time, and the time between two attacks could be anywhere from one week to even several years. […] Fever is the most common and sometimes the only symptom (especially during childhood) to occur during FMF attacks. The temperature may vary from mild to 38 to 40 degrees C (100.4 to 104 degrees F). An abdominal pain attack is the most common type of attack in FMF. Abdominal pain could be localized initially and then become generalized. FMF manifests as recurrent attacks of fever and serositis, leading to severe chest, abdominal, or joint pain.

• #5 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #6 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. It causes recurring episodes of fever and inflammation in your abdomen, chest and joints. Common symptoms of familial Mediterranean fever include fever, abdominal pain, chest pain and joint pain. Familial Mediterranean fever (FMF) is a lifelong condition that causes recurring episodes of fever and inflammation throughout your body. Symptoms of familial Mediterranean fever usually start to appear in childhood, before the age of 20. Theyre often severe in the early years and become less frequent and less intense with age. Symptoms occur in episodes that develop over several hours. Not everyone has every symptom. Fever is the most common, and in childhood, it may be the only symptom. Episodes typically last a few days. Even though episodes of familial Mediterranean fever are temporary, they can take a toll on your body over time. This is why healthcare providers recommend continuous treatment. The most serious of these is secondary amyloidosis, which can lead to kidney failure. While theres no cure, medication can effectively manage familial Mediterranean fever. Many people stop having inflammatory episodes with medication. Others have fewer, milder ones.

• #7 Familial Mediterranean fever: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/

  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. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. […] The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. Episodes generally occur once a month, and in affected women of reproductive age, attacks often correspond with menstruation or ovulation. However, the length of time between episodes can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body’s organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

• #8 About Familial Mediterranean Fever

  https://www.genome.gov/Genetic-Disorders/Familial-Mediterranean-Fever

  Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, inflammation of the abdominal lining (peritonitis), inflammation of the lining surrounding the lungs, painful, swollen joints, and a characteristic ankle rash. […] FMF is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied with serositis, synovitis or skin rash. In some patients, attacks begin in infancy or very early childhood, but 80 to 90 percent of patients experience their first episode by age 20. Young children sometimes present with recurrent fevers alone. The frequency of FMF attacks is highly variable, both among groups of patients or for any individual patient, with the interval between attacks ranging from days to years. Moreover, the type of attack – whether abdominal, pleural or arthritic – may also vary over time. Between attacks, people commonly are symptom-free.

• #9 Rare Familial Mediterranean Fever

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

  FMF often causes fever attacks that may last for up to 3 days. Fevers can spike up to 104 degrees. Along with a fever, it can cause joint pain and swelling, typically in the knee or ankle. A child’s joint may be so painful and swollen that they can’t walk. […] These joint pain attacks may be misdiagnosed at first as juvenile idiopathic arthritis (JIA). Their joint may stay swollen for a week or two, then get better. Some children have long-term joint symptoms. […] FMF may cause these symptoms too: Red skin rash on the calves, ankles, or feet, Severe abdominal pain, Chest pain, Achy muscles, Constipation followed by diarrhea. […] FMF flares may be triggered by an infection, stress, strenuous exercise, physical trauma, or even getting your period. Between flares, people with FMF often feel normal. They may be symptom-free for years between flares.

• #10 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. The first attack frequently occurs in childhood, and it usually begins before the age of 20 years. All attacks develop over 2 to 4 hours and last anywhere from 6 hours to 4 days. The symptoms develop over 2 to 4 hours and last for about 12 to 72 hours. Patients feel normal between attacks. The severity of attacks may vary each time, and the time between two attacks could be anywhere from one week to even several years. […] Fever is the most common and sometimes the only symptom (especially during childhood) to occur during FMF attacks. The temperature may vary from mild to 38 to 40 degrees C (100.4 to 104 degrees F). An abdominal pain attack is the most common type of attack in FMF. Abdominal pain could be localized initially and then become generalized. FMF manifests as recurrent attacks of fever and serositis, leading to severe chest, abdominal, or joint pain.

• #11 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

  Fever is a typical symptom in more than 96% of inflammatory attacks, with frequent high levels of body temperature, between 38 and 40C. […] The length of the self-limited episodes, lasting from 1 to 4days, can have mild prodromal symptoms (myalgia, arthralgia, lumbar spine pain, headache, dyspnoea, nausea, arthralgia, asthenia, disquiet) ongoing for about 17h. […] Patients older than 12years at the onset, showed a reduced frequency of fever attacks than the younger patients. Patients younger than 5years at the onset showed more severe attacks. […] Abdominal pain is a frequent symptom (90%) and may be diffuse or localized; in some cases, it typically mimics acute abdomen or appendicitis. […] Thoracic pain is associated with pericarditis and/or pleural effusion (frequently monoliteral, of mild entity).

• #12 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. […] The most common symptom of familial Mediterranean fever is recurrent fevers that cant be explained by another cause. […] If your child has familial Mediterranean fever, they might have other symptoms during an attack. These include: stomach, muscle or chest pain, joint pain or swelling (most commonly the knees and ankles), constipation or diarrhoea, rashes, especially on the lower legs. […] Attacks of familial Mediterranean fever usually last 2-3 days and vary in how severe they are and how often they happen. […] Symptoms often first appear in children under the age of 5 years, but they can appear at any age.

• #13 Familial Mediterranean Fever Clinical Presentation: History, Physical Examination

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

  Almost all patients with FMF experience abdominal episodes. Abdominal pain develops, and may progress to peritonitis. Frequently the clinical presentation is consistent with appendicitis or cholecystitis, so patients commonly undergo appendectomies and cholecystectomies because the abdominal episodes of FMF are not recognized as such. […] The frequency of pleural and pericardial attacks varies among ethnic groups, with 25-80% of patients reporting pleuritic episodes. Effusions occasionally occur. Pericarditis may develop, but tamponade and constrictive pericarditis are rare. […] The rate of synovial symptoms varies from 25-75% in reported series. The episodes may resemble gout in their acute onset and intensity. Knees, ankles, and wrists are the joints most commonly affected. An arthritis that resembles seronegative spondyloarthritis may also occur.

• #14 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. FMF often causes recurrent fevers accompanied by pain in the abdomen, joints or chest. Episodes usually last one to three days then go away. Children with frequent episodes may not fully recover or grow normally. Severe abdominal pain may be mistaken for appendicitis. Severe chest pain may cause difficulty breathing. Usually, one joint such as an ankle or knee is painful or swollen. A red rash on the lower extremities affects one-third of patients. Some children have muscle pain in their legs, especially after activity. Rare complications are inflammation of the heart (pericarditis), membrane around the brain and spinal cord (meningitis), muscles (myositis) or testicles (orchitis). […] Diagnosis is confirmed with a positive test for the MEFV gene mutation.

• #15 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. […] Typically, most people have attacks of severe abdominal pain and a high fever. […] Symptoms of familial Mediterranean fever usually begin between the ages of 5 and 15 years. […] Attacks of abdominal pain occur in about 95% of people. Attacks happen irregularly and are accompanied by fever as high as 104 F (40 C). The painful attacks usually last 12 to 72 hours but may last longer. […] The abdominal pain is caused by inflammation of the lining of the abdominal cavity (peritonitis). The pain usually starts in one part of the abdomen then spreads throughout the entire abdomen. The severity of the pain may vary with each attack.

• #16 Familial Mediterranean Fever Clinical Presentation: History, Physical Examination

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

  Almost all patients with FMF experience abdominal episodes. Abdominal pain develops, and may progress to peritonitis. Frequently the clinical presentation is consistent with appendicitis or cholecystitis, so patients commonly undergo appendectomies and cholecystectomies because the abdominal episodes of FMF are not recognized as such. […] The frequency of pleural and pericardial attacks varies among ethnic groups, with 25-80% of patients reporting pleuritic episodes. Effusions occasionally occur. Pericarditis may develop, but tamponade and constrictive pericarditis are rare. […] The rate of synovial symptoms varies from 25-75% in reported series. The episodes may resemble gout in their acute onset and intensity. Knees, ankles, and wrists are the joints most commonly affected. An arthritis that resembles seronegative spondyloarthritis may also occur.

• #17 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #18 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. FMF often causes recurrent fevers accompanied by pain in the abdomen, joints or chest. Episodes usually last one to three days then go away. Children with frequent episodes may not fully recover or grow normally. Severe abdominal pain may be mistaken for appendicitis. Severe chest pain may cause difficulty breathing. Usually, one joint such as an ankle or knee is painful or swollen. A red rash on the lower extremities affects one-third of patients. Some children have muscle pain in their legs, especially after activity. Rare complications are inflammation of the heart (pericarditis), membrane around the brain and spinal cord (meningitis), muscles (myositis) or testicles (orchitis). […] Diagnosis is confirmed with a positive test for the MEFV gene mutation.

• #19 Familial Mediterranean Fever Clinical Presentation: History, Physical Examination

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

  Almost all patients with FMF experience abdominal episodes. Abdominal pain develops, and may progress to peritonitis. Frequently the clinical presentation is consistent with appendicitis or cholecystitis, so patients commonly undergo appendectomies and cholecystectomies because the abdominal episodes of FMF are not recognized as such. […] The frequency of pleural and pericardial attacks varies among ethnic groups, with 25-80% of patients reporting pleuritic episodes. Effusions occasionally occur. Pericarditis may develop, but tamponade and constrictive pericarditis are rare. […] The rate of synovial symptoms varies from 25-75% in reported series. The episodes may resemble gout in their acute onset and intensity. Knees, ankles, and wrists are the joints most commonly affected. An arthritis that resembles seronegative spondyloarthritis may also occur.

• #20 Familial Mediterranean Fever Clinical Presentation: History, Physical Examination

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

  Arthritic symptoms tend to last several days longer than abdominal symptoms. Episodes can be protracted. The joints are normal between attacks, and permanent damage is unusual. […] Amyloidosis in FMF typically progresses from proteinuria, followed by nephrotic syndrome, and, inevitably, death from kidney failure. […] Some patients with a family history of FMF present with amyloid nephropathy without ever having experienced an amyloid attack. Furthermore, some patients with otherwise typical FMF may develop kidney failure without previous proteinuria.

• #21 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #22 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

  Arthritis is reported in 45% of FMF patients. […] Myalgia is mostly localized at the legs, while some patients experience protracted febrile myalgia. […] Erysipelas-like erythema is a typical clinical expression of FMF with a variable incidence (740%). […] Headache is due to aseptic meningitis and, in association with asthenia, may be the main symptom. […] In Turkey, abdominal pain (76%) and fever (58%) are the most frequent symptoms, followed by arthritis (28%), chest pain (19%). […] In an Italian centre, the incidence of symptoms in more than 370 patients, was different: fever (93.3%); abdominal pain (80.7%); arthralgia (66.9%); thoracic pain (40.2%); myalgia (36.3%); skin lesions (31.2%); aphthous lesions (28.2%); kidney involvement (15.4%); recurrent orchitis (3.5%). […] Recently, cochlear involvement was demonstrated in FMF patients. Hearing thresholds show acute changes during the attacks, as an effect of acute inflammation on cochlea and recurrent inflammatory periods have a cumulative damage on cochlea.

• #23 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #24 Familial Mediterranean fever

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

  Familial Mediterranean fever is an inherited autoinflammatory syndrome characterised by recurrent short episodes of high fever associated with abdominal pain, inflammation of joints and other body sites and skin rash. If untreated, amyloidosis commonly develops and may have a fatal outcome. Familial Mediterranean fever is the most common of the periodic fever syndromes. […] The most common clinical features of familial Mediterranean fever are: febrile attacks lasting for 1-3 days, severe abdominal, chest and/or joint pain, erysipelas-like changes on the lower legs. Onset is almost always before 30 years of age. Children under the age of 2 years often present with fever alone, and progress to more typical attacks by the age of 5 years. […] The characteristics of the recurrent acute episodes of familial Mediterranean fever are described in the table below.

• #25 Familial Mediterranean Fever – swollen, symptoms, meaning, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/E-F/Familial-Mediterranean-Fever.html

  The recurrent acute attacks of FMF typically begin in childhood or adolescence. These acute episodes of fever and painful inflammation usually last 12-72 hours. About 90 percent of people with FMF have their first attack by age 20. […] The group of symptoms that characterizes FMF includes the following: Fever: An FMF attack is nearly always accompanied by a fever, but it may not be noticed in every case. […] Abdominal pain: Nearly all people with FMF experience abdominal pain at one point or another, and for most it is the most common complaint. […] Chest pain (pleuritis): Pleuritis, also called pleurisy, occurs in up to half of the affected individuals in certain ethnic groups. […] Joint pain: About 50 percent of people with FMF experience joint pain during attacks. […] Muscle pain (myalgia): Up to 20 percent of individuals with FMF report muscle pain.

• #26 Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation | Egyptian Rheumatology and Rehabilitation | Full Text

  https://erar.springeropen.com/articles/10.1186/s43166-021-00106-w

  Musculoskeletal manifestation is the second most common presenting symptom in a cohort of Egyptian FMF patients after abdominal pain. Arthralgia is the most frequent musculoskeletal manifestation while monoarthritis of the knee or ankle joint is the most common pattern of arthritis in FMF patients. Vertigo, paresthesia, and seizures are the most frequent neurological manifestations. […] The arthritis of FMF is usually in the form of acute attacks of pain and swelling, most frequently affecting large joints of the lower extremities, although the shoulder, sternoclavicular or temporomandibular joints may also be involved. […] Myalgia is also a common manifestation of FMF and occurs in about 20% of patients. Protracted febrile myalgia syndrome is a unique syndrome, that has been described in patients with FMF, characterized by severe, disabling muscle pain and tenderness lasting several weeks, which responds only to corticosteroid therapy.

• #27 Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation | Egyptian Rheumatology and Rehabilitation | Full Text

  https://erar.springeropen.com/articles/10.1186/s43166-021-00106-w

  Regarding the musculoskeletal manifestations, 38.6 % of the involved patients had arthritis during the period of follow-up. The most commonly affected joints were the knee and ankle, the small joints of the feet, and the hands respectively. Monoarthritis was the most frequent pattern of arthritis, being present in 26.9% (39 patients) of the studied patients. Arthralgia was the most prominent musculoskeletal manifestation, presenting in 96.6% of the studied patients with also the knee as the most frequent joint, followed by the ankle, feet, and lower back respectively. Myalgia was present in 19.3% of the studied patients (28 patients) involving the lower limb muscle (14 patients), upper limb muscles (10 patients), upper and lower limb muscles (3 patients) with one case of protracted febrile myalgia.

• #28 Familial Mediterranean fever – Wikipedia

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

  Joint attacks mainly occur in large joints, especially in the legs. Usually, only one joint is affected. Seventy-five percent of all FMF patients experience joint attacks. […] Chest attacks include pleuritis (inflammation of the pleura) and pericarditis (inflammation of the pericardium). Pleuritis occurs in 40 percent of patients and makes it difficult to breathe or lie flat, but pericarditis is rare. […] Scrotal attacks due to inflammation of the tunica vaginalis are somewhat rare but may be mistaken for testicular torsion. […] Myalgia (rare in isolation) and erysipeloid rashes (a skin reaction on the legs that can mimic cellulitis, rare in isolation) are also symptoms. […] AA-amyloidosis with kidney failure may develop without overt crises. AA amyloid protein is produced in very large quantities during attacks and at a low rate between them, accumulating mainly in the kidney, heart, spleen, gastrointestinal tract, and thyroid. […] There appears to be an increased risk of certain vasculitis-related diseases (e.g., Henoch-Schnlein purpura, polyarteritis nodosa, and Behçet’s disease), spondylarthropathy, prolonged arthritis of certain joints, and protracted myalgia.

• #29 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #30 Familial Mediterranean fever: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/

  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. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. […] The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. Episodes generally occur once a month, and in affected women of reproductive age, attacks often correspond with menstruation or ovulation. However, the length of time between episodes can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body’s organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

• #31 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  A prodrome (preattack symptoms) is experienced by approximately 50% of persons with FMF. The prodrome recurs in most attacks, lasts a mean of 20 hours, and manifests with either a mildly unpleasant sensation at the site of the forthcoming spell (discomfort prodrome), or with a spectrum of physical, emotional, and neuropsychological complaints. […] Type AA amyloidosis is common in untreated individuals, especially in Jews of North African origin. It presents with persistent, heavy proteinuria leading to nephrotic syndrome and progressive nephropathy leading to end-stage renal disease. Affected individuals who are otherwise asymptomatic can develop renal amyloidosis as the first and only manifestation of FMF; this is termed FMF type 2. […] Long periods between disease onset and diagnosis are associated with a high risk of developing amyloidosis.

• #32 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

  Fever is a typical symptom in more than 96% of inflammatory attacks, with frequent high levels of body temperature, between 38 and 40C. […] The length of the self-limited episodes, lasting from 1 to 4days, can have mild prodromal symptoms (myalgia, arthralgia, lumbar spine pain, headache, dyspnoea, nausea, arthralgia, asthenia, disquiet) ongoing for about 17h. […] Patients older than 12years at the onset, showed a reduced frequency of fever attacks than the younger patients. Patients younger than 5years at the onset showed more severe attacks. […] Abdominal pain is a frequent symptom (90%) and may be diffuse or localized; in some cases, it typically mimics acute abdomen or appendicitis. […] Thoracic pain is associated with pericarditis and/or pleural effusion (frequently monoliteral, of mild entity).

• #33 Rare Familial Mediterranean Fever

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

  FMF often causes fever attacks that may last for up to 3 days. Fevers can spike up to 104 degrees. Along with a fever, it can cause joint pain and swelling, typically in the knee or ankle. A child’s joint may be so painful and swollen that they can’t walk. […] These joint pain attacks may be misdiagnosed at first as juvenile idiopathic arthritis (JIA). Their joint may stay swollen for a week or two, then get better. Some children have long-term joint symptoms. […] FMF may cause these symptoms too: Red skin rash on the calves, ankles, or feet, Severe abdominal pain, Chest pain, Achy muscles, Constipation followed by diarrhea. […] FMF flares may be triggered by an infection, stress, strenuous exercise, physical trauma, or even getting your period. Between flares, people with FMF often feel normal. They may be symptom-free for years between flares.

• #34 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. […] Symptoms frequently start before 20years of age and are characterized by a more severe phenotype in patients who begin earlier. […] Attacks consist of fever, serositis, arthritis and high levels of inflammatory reactants: C-reactive protein, erythrocyte sedimentation rate, serum amyloid A associated with leucocytosis and neutrophilia. The symptom-free intervals are of different length. […] The attacks of Familial Mediterranean Fever can have a trigger, as infections, stress, menses, exposure to cold, fat-rich food, drugs.

• #35

  https://link.springer.com/article/10.1007/s11739-024-03576-w

  Several possible factors are hypothesized to trigger familial Mediterranean fever (FMF) attacks; however, there is no consensus on this matter. […] The most frequent triggering factor for familial Mediterranean fever attacks was psychological stress (75.2%). Cold exposure was a statistically significant trigger in patients with exon 10 mutations. Humidity was a statistically significant trigger in patients with exon 2 mutations. Seasonal changes, traveling for long durations, relocation, and cold exposure were statistically significant triggers of familial Mediterranean fever attacks in patients with homozygous M694V mutations. […] Patients can significantly decrease the number of familial Mediterranean fever attacks they experience by managing psychological stress and avoiding physical factors such as cold exposure and fatigue.

• #36

  https://link.springer.com/article/10.1007/s11739-024-03576-w

  The most common characteristics were peritonitis (83.8%), arthralgia (74.4%), and fever (68.7%). […] Ninety-four percent of the patients reported the presence of at least one triggering factor for their FMF attacks, with only 53 patients not reporting any triggering factor. […] The most common trigger for FMF was psychological stress (75.2%). Fatigue (63.6%) was the second-most common trigger factor associated with FMF attacks. […] Among the 496 female patients, 51.0% reported an increase in the frequency and intensity of attacks during menstruation. Menopause affected 21.4% of the female patients, and 51 patients (48.5%) reported a reduction in the frequency and intensity of attacks after entering menopause. […] Psychological stress, menstruation, and fatigue were among the most common trigger factors in our study. […] This study shows the high prevalence of triggering factors among patients with FMF. Advancements in this area have the potential to alter the way we manage patients with FMF, as it can provide new ways to prevent FMF attacks.

• #37 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

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

  The prognosis of FMF depends mainly on the frequency of the attacks and the development of complications. Generally, the attacks improve with the treatment and decrease in frequency with age. Certain genotypes such as 694V are associated with a higher risk of complications such as renal amyloidosis and more frequent attacks. Hence, they are associated with an adverse prognosis compared to other genotypes.

• #38 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. It causes recurring episodes of fever and inflammation in your abdomen, chest and joints. Common symptoms of familial Mediterranean fever include fever, abdominal pain, chest pain and joint pain. Familial Mediterranean fever (FMF) is a lifelong condition that causes recurring episodes of fever and inflammation throughout your body. Symptoms of familial Mediterranean fever usually start to appear in childhood, before the age of 20. Theyre often severe in the early years and become less frequent and less intense with age. Symptoms occur in episodes that develop over several hours. Not everyone has every symptom. Fever is the most common, and in childhood, it may be the only symptom. Episodes typically last a few days. Even though episodes of familial Mediterranean fever are temporary, they can take a toll on your body over time. This is why healthcare providers recommend continuous treatment. The most serious of these is secondary amyloidosis, which can lead to kidney failure. While theres no cure, medication can effectively manage familial Mediterranean fever. Many people stop having inflammatory episodes with medication. Others have fewer, milder ones.

• #39 Familial Mediterranean Fever

  https://www.printo.it/pediatric-rheumatology/IE/info/20/Familial-Mediterranean-Fever

  In general, FMF in children resembles that seen in adults. However, some features of the disease, such arthritis (joint inflammation) and myositis, are more common in childhood. The frequency of attacks usually decreases as the patient gets older. […] FMF is a life-long disease. […] If treated properly with life-long colchicine, children with FMF live a normal life. If there is a delay in diagnosis or lack of compliance with treatment, the risk of developing amyloidosis increases, which results in a poor prognosis. Children who develop amyloidosis may require a kidney transplant. […] No, because it is a genetic disease. However, life-long therapy with colchicine gives the patient the opportunity to live a normal life, without restrictions and with no risk of developing amyloidosis.

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

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

  Inflammatory episodes can involve any of these membranes resulting in pleuritis (thoracic pain), pericarditis (pain around the heart), synovitis (joint pain) and as stated above, peritonitis (abdominal pain). […] The most serious manifestation of FMF, experienced by a small percent of patients, is amyloidosis. […] Amyloidosis is the most life-threatening symptom of FMF and can be asymptomatic until it has reached an advanced stage. […] Although the occurrence of acute inflammatory episodes is characteristic of FMF, persistent inflammatory symptoms may be present between attacks in some patients, such as joint pain, body aches, fatigue. […] However, a small number of patients (33 out of 1,000 diagnosed cases in one study) report a sustained remission of symptoms for yet to be understood reasons.

• #41 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

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. […] Self-limited inflammatory attacks of fever and polyserositis along with high acute phase response are the typical phenotype expected in FMF. The most significant complication of FMF is amyloidosis, and it is responsible for long-term morbidity and mortality. […] Colchicine is the mainstay of FMF treatment, and its regular use prevents attacks and suppresses chronic subclinical inflammation. Anti-IL-1 drugs emerged as promising treatment options in patients who fail to response or tolerate colchicine. […] 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.

• #42 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

  Despite the severity of symptoms during attacks, people rapidly recover and remain free of illness until their next attack. […] If not treated adequately, some people with familial Mediterranean fever develop amyloidosis. In amyloidosis, an unusually shaped protein called amyloid is deposited in the kidneys and in many organs and tissues, impairing their function. […] Up to one third of untreated women with familial Mediterranean fever have infertility or miscarry a pregnancy. The disorder can cause scar tissue to form in the pelvis. The scar tissue can interfere with conception.

• #43 Familial Mediterranean fever | Altru Health System

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

  Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. […] Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. […] Signs and symptoms of FMF attacks vary, but can include: Fever, Abdominal pain, Chest pain, which can make it hard to breathe deeply, Painful, swollen joints, usually in the knees, ankles and hips, A red rash on your legs, especially below your knees, Muscle aches, A swollen, tender scrotum. […] The attacks generally resolve spontaneously after a few days. Between attacks, you’ll likely feel back to your typical health. Symptom-free periods may be as short as a few days or as long as several years. […] In some people, the first sign of FMF is amyloidosis. With amyloidosis, the protein amyloid A, which is not typically found in the body, builds up in organs especially the kidneys causing inflammation and interfering with their function.

• #44 About Familial Mediterranean Fever

  https://www.genome.gov/Genetic-Disorders/Familial-Mediterranean-Fever

  Other symptoms that may occur include inflammation of the lining surrounding the heart (pericarditis), inflammation of the testis (orchitis), benign, recurrent inflammation of the membrane that surrounds the brain and spinal chord (meningitis), headaches and amyloidosis. Amyloidosis occurs when a particular protein, called amyloid, builds up in various tissues of the body, primarily the kidney. Potentially, it is the most serious complication of FMF, causing kidney failure. In some cases the amyloidosis can develop even without overt attacks of FMF.

• #45 Familial Mediterranean Fever Clinical Presentation: History, Physical Examination

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

  Arthritic symptoms tend to last several days longer than abdominal symptoms. Episodes can be protracted. The joints are normal between attacks, and permanent damage is unusual. […] Amyloidosis in FMF typically progresses from proteinuria, followed by nephrotic syndrome, and, inevitably, death from kidney failure. […] Some patients with a family history of FMF present with amyloid nephropathy without ever having experienced an amyloid attack. Furthermore, some patients with otherwise typical FMF may develop kidney failure without previous proteinuria.

• #46 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  Common manifestations of FMF type 1 include the following. Recurrent fever during early childhood may be the only manifestation of FMF. These are experienced by 90% of affected individuals and start with the sudden onset of fever and pain affecting the entire abdomen. Physical examination reveals board-like rigidity of the abdominal muscles, rebound tenderness, abdominal distension, and loss of peristaltic sounds. […] These are experienced by approximately 75% of individuals with FMF, occur suddenly, and may be precipitated by minor trauma or effort, such as prolonged walking. The three characteristic features are (1) a very high fever in the first 24 hours, (2) involvement of one of the large joints of the leg (knee, ankle, or hip), and (3) gradual resolution of the signs and symptoms after peaking in 24-48 hours, leaving no sequelae.

• #47 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  A prodrome (preattack symptoms) is experienced by approximately 50% of persons with FMF. The prodrome recurs in most attacks, lasts a mean of 20 hours, and manifests with either a mildly unpleasant sensation at the site of the forthcoming spell (discomfort prodrome), or with a spectrum of physical, emotional, and neuropsychological complaints. […] Type AA amyloidosis is common in untreated individuals, especially in Jews of North African origin. It presents with persistent, heavy proteinuria leading to nephrotic syndrome and progressive nephropathy leading to end-stage renal disease. Affected individuals who are otherwise asymptomatic can develop renal amyloidosis as the first and only manifestation of FMF; this is termed FMF type 2. […] Long periods between disease onset and diagnosis are associated with a high risk of developing amyloidosis.

• #48 Orphanet: Familial Mediterranean fever

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

  In 7-40% of patients cutaneous involvement is also present. Amyloidosis type AA can be a serious long term complication. FMF type 2 describes a phenotype where amyloidosis occurs as the first and only manifestation of the disease. […] Although there is no cure for FMF, colchicine treatment improves patient quality of life. Untreated FMF patients and those with renal amyloidosis have a less favorable prognosis.

• #49 Rare Familial Mediterranean Fever

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

  It’s rare, but some children with FMF can develop these serious complications: Myositis, or muscle inflammation, Pericarditis, an inflammation of tissue around the outside of the heart, Meningitis, an inflammation of tissue around the brain or spinal cord, Inflammation of the testicles, Enlarged spleen, Amyloidosis, a protein buildup in the urine that may cause serious kidney damage. […] People with FMF have a higher risk of developing some other inflammatory diseases: Vasculitis, or blood vessel inflammation, such as Behçet’s disease, Ulcerative colitis (UC), Crohn’s disease, Rheumatoid arthritis (RA). […] People with untreated FMF may become infertile, especially if they also have severe flares or develop amyloidosis.

• #50 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

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

  Familial Mediterranean fever (FMF), also known as recurrent polyserositis, is a hereditary autoinflammatory disorder characterized mainly by brief recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. Attacks often begin in childhood; in approximately 90% of cases, clinical onset is before age 20 years. […] In patients with FMF, uninhibited pyrin activity results in uncontrolled production of interleukin-1 (IL-1), leading to episodes of inflammation (with accompanying fever) in the peritoneum, pleura, and joints; persistent subclinical inflammation is also common. […] Patients who are compliant with daily colchicine can probably expect to have a normal lifespan if colchicine is started before proteinuria develops. Patients with amyloidosis may develop an acute onset of kidney failure if they are stressed by dehydration, infection, or both. Even with amyloidosis, the use of colchicine, dialysis, and kidney transplantation should extend a patient’s life beyond age 50 years. […] Approximately 5% of patients with FMF develop chronic arthritis that sometimes leads to destructive arthritis of hips or knees and may necessitate joint replacements. Approximately 10% of patients with chronic arthritis develop seronegative spondyloarthropathy.

• #51 About Familial Mediterranean Fever

  https://www.genome.gov/Genetic-Disorders/Familial-Mediterranean-Fever

  Other symptoms that may occur include inflammation of the lining surrounding the heart (pericarditis), inflammation of the testis (orchitis), benign, recurrent inflammation of the membrane that surrounds the brain and spinal chord (meningitis), headaches and amyloidosis. Amyloidosis occurs when a particular protein, called amyloid, builds up in various tissues of the body, primarily the kidney. Potentially, it is the most serious complication of FMF, causing kidney failure. In some cases the amyloidosis can develop even without overt attacks of FMF.

• #52 Neurological manifestations among Egyptian children with familial Mediterranean fever | Egyptian Rheumatology and Rehabilitation | Full Text

  https://erar.springeropen.com/articles/10.1186/s43166-024-00264-7

  Familial Mediterranean fever (FMF) is an auto-inflammatory periodic disorder resulting from mutations in the Mediterranean fever gene. […] Neurological manifestations such as headache, paresthesia, convulsions, tremors, breath-holding attacks, and syncope were reported. […] Neurological manifestations were detected in 160 (53.3%) patients. Headache was the most common symptom in 136 (45.3%), followed by paraesthesia in 76 (25.3%). Epilepsy was present in 7 (2.3%) cases. […] Headaches were most frequent among patients with compound heterozygous mutation, severe ISSF scores, and poor compliance with colchicine. […] Egyptian children with FMF present with various neurological manifestations. Headache and paresthesia were the most frequent, especially with the compound heterozygous mutations, severe ISSF score, and among colchicine non-compliant patients.

• #53 Neurological manifestations among Egyptian children with familial Mediterranean fever | Egyptian Rheumatology and Rehabilitation | Full Text

  https://erar.springeropen.com/articles/10.1186/s43166-024-00264-7

  Neurological symptoms were present in 53.3% of our FMF patients, and this is more than the results obtained by Bektas et al., in which neurological manifestations were detected in 23.5%. […] Headache was the most common neurological symptom among the current patients in 50%; similar results were obtained by Salehzadeh et al. in which headache was found in 47.6% of cases. […] In this study, 25.3% had paresthesias, which was higher than the results obtained by Kalyoncu et al. in 11.1% of cases. […] Epilepsy was diagnosed in 2.3% of patients during illness, and this is in accordance with Salehzadeh et al. […] Febrile convulsions and FMF share common molecular pathways such as increased production of IL-1B; in this study, febrile convulsions were detected in 5.7% of patients. […] The frequency of breath-holding attacks in healthy children ranges between 0.1 and 4.6% while among FMF patients included in this work was 11.3%.

• #54 Rare Familial Mediterranean Fever

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

  It’s rare, but some children with FMF can develop these serious complications: Myositis, or muscle inflammation, Pericarditis, an inflammation of tissue around the outside of the heart, Meningitis, an inflammation of tissue around the brain or spinal cord, Inflammation of the testicles, Enlarged spleen, Amyloidosis, a protein buildup in the urine that may cause serious kidney damage. […] People with FMF have a higher risk of developing some other inflammatory diseases: Vasculitis, or blood vessel inflammation, such as Behçet’s disease, Ulcerative colitis (UC), Crohn’s disease, Rheumatoid arthritis (RA). […] People with untreated FMF may become infertile, especially if they also have severe flares or develop amyloidosis.

• #55 Familial Mediterranean Fever: Mimics fibromyalgia, arthritis, inflammation

  https://www.geneticlifehacks.com/familial-mediterranean-fever-do-you-carry-the-genetic-variants/

  A study of fibromyalgia patients and their families found that 15% carried heterozygous mutations for familial Mediterranean fever as well as having elevated levels of IL-1B (also found in FMF patients). […] In a study of asymptomatic parents of children with FMF, many were found to have diagnoses of rheumatoid arthritis, rheumatic fever, and arthralgia. […] In a study on gouty arthritis, 38% were found to carry an MEFV variant that can cause familial Mediterranean fever. […] A study of lupus patients found that those carrying MEFV variants had an earlier onset of disease, more episodes of fever, and pleurisy. […] A small study of people with myofascial pain syndrome found that 75% of them carried one copy of the MEFV mutation. […] 70% of patients with neurological symptoms in Behets or Sweets Disease have MEFV mutations.

• #56 Familial Mediterranean Fever: Mimics fibromyalgia, arthritis, inflammation

  https://www.geneticlifehacks.com/familial-mediterranean-fever-do-you-carry-the-genetic-variants/

  Psoriasis also links to excess inflammation and is found more commonly in people with FMF diagnosis. Pustular psoriasis is also common in people with heterozygous (single copy) MEFV mutations. This study found that a third of pustular psoriasis patients carried MEFV mutations. […] There is an increased incidence of vasculitis in people with MEFV mutations.

• #57 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

  Despite the severity of symptoms during attacks, people rapidly recover and remain free of illness until their next attack. […] If not treated adequately, some people with familial Mediterranean fever develop amyloidosis. In amyloidosis, an unusually shaped protein called amyloid is deposited in the kidneys and in many organs and tissues, impairing their function. […] Up to one third of untreated women with familial Mediterranean fever have infertility or miscarry a pregnancy. The disorder can cause scar tissue to form in the pelvis. The scar tissue can interfere with conception.

• #58 Rare Familial Mediterranean Fever

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

  It’s rare, but some children with FMF can develop these serious complications: Myositis, or muscle inflammation, Pericarditis, an inflammation of tissue around the outside of the heart, Meningitis, an inflammation of tissue around the brain or spinal cord, Inflammation of the testicles, Enlarged spleen, Amyloidosis, a protein buildup in the urine that may cause serious kidney damage. […] People with FMF have a higher risk of developing some other inflammatory diseases: Vasculitis, or blood vessel inflammation, such as Behçet’s disease, Ulcerative colitis (UC), Crohn’s disease, Rheumatoid arthritis (RA). […] People with untreated FMF may become infertile, especially if they also have severe flares or develop amyloidosis.

• #59 Familial Mediterranean fever | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/familial-mediterranean-fever/

  Untreated FMF can also result in decreased fertility. With early and regular treatment, individuals with FMF can live a normal lifespan and may even be free of symptoms. The disease has the potential to be life-threatening if the patient develops kidney failure (which may result when a person is untreated or does not respond to treatment).

• #60 Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3985156/

  Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. […] FMF is an autosomal recessive autoinflammatory disease with the manifestations of recurrent fever, abdominal pain, joint pain, and swelling and chest pain. Recurrent fever during early childhood may be the only manifestation of FMF. Abdominal attacks are reported in 90%, articular attacks in 75%, and pleural attacks in 45% of affected individuals. Symptoms of the disease start before 20 years of age in 90% of patients and 60% begin before the age of 10. Onset of the disease at older ages occurs rarely. […] At the early ages, especially in the first year of life, fever is the most common symptom, but it is attributed to infectious diseases.

• #61 Familial Mediterranean fever

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

  Familial Mediterranean fever is an inherited autoinflammatory syndrome characterised by recurrent short episodes of high fever associated with abdominal pain, inflammation of joints and other body sites and skin rash. If untreated, amyloidosis commonly develops and may have a fatal outcome. Familial Mediterranean fever is the most common of the periodic fever syndromes. […] The most common clinical features of familial Mediterranean fever are: febrile attacks lasting for 1-3 days, severe abdominal, chest and/or joint pain, erysipelas-like changes on the lower legs. Onset is almost always before 30 years of age. Children under the age of 2 years often present with fever alone, and progress to more typical attacks by the age of 5 years. […] The characteristics of the recurrent acute episodes of familial Mediterranean fever are described in the table below.

• #62 Familial Mediterranean Fever: Symptoms, Causes, Treatments

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/familial-mediterranean-fever

  In children under age 5 years, a recurring fever may be the only symptom they experience. […] A person with FMF may be at risk of developing complications. If episodes occur close together, it may cause growth delays during childhood. […] FMF may also bring about amyloidosis. Amyloidosis is a potentially serious condition that occurs when amyloid protein builds up in certain areas of the body. When this happens in the kidneys, it can result in kidney failure. […] Familial Mediterranean fever (FMF) is a rare condition that causes recurrent episodes of fever. Other symptoms of FMF include pain in the abdomen, chest, and joints. […] FMF typically affects children, with up to 75% of cases beginning before the age 10. It’s a hereditary condition that most commonly affects people of Mediterranean descent.

• #63 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. It causes recurring episodes of fever and inflammation in your abdomen, chest and joints. Common symptoms of familial Mediterranean fever include fever, abdominal pain, chest pain and joint pain. Familial Mediterranean fever (FMF) is a lifelong condition that causes recurring episodes of fever and inflammation throughout your body. Symptoms of familial Mediterranean fever usually start to appear in childhood, before the age of 20. Theyre often severe in the early years and become less frequent and less intense with age. Symptoms occur in episodes that develop over several hours. Not everyone has every symptom. Fever is the most common, and in childhood, it may be the only symptom. Episodes typically last a few days. Even though episodes of familial Mediterranean fever are temporary, they can take a toll on your body over time. This is why healthcare providers recommend continuous treatment. The most serious of these is secondary amyloidosis, which can lead to kidney failure. While theres no cure, medication can effectively manage familial Mediterranean fever. Many people stop having inflammatory episodes with medication. Others have fewer, milder ones.

• #64 Familial Mediterranean fever | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/familial-mediterranean-fever

  Familial Mediterranean fever (FMF) is a rare genetic disorder primarily affecting individuals of Mediterranean descent, characterized by recurrent fevers and episodes of painful abdominal inflammation. The condition is linked to mutations in the MEFV gene, which disrupts the body’s inflammatory response, often leading to symptoms such as fever, abdominal pain, and, in some cases, pleuritis, arthritis, and skin lesions. Symptoms typically manifest in childhood or adolescence, and episodes can vary in frequency and intensity, sometimes leading to spontaneous remissions. […] The first signs and symptoms of FMF usually appear between the ages of five and fifteen, although initial attacks have been documented in infancy. Ninety percent of people with FMF have their first attack before the age of twenty. The attacks commonly last from twenty-four to seventy-two hours. The frequency of attacks is unpredictable and can be as high as two attacks per week or as low as one attack per year. Spontaneous remissions of several years may occur.

• #65 Familial Mediterranean fever | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/familial-mediterranean-fever

  Fever and abdominal pain are the most common manifestations. Fever is nearly always present and may range from 100 degrees Fahrenheit (37.8 degrees Celsius) to 104 degrees Fahrenheit (40 degrees Celsius). Acute abdominal pain typically starts in one quadrant and then spreads to the whole abdomen. […] Pleurisy occurs in about 30 percent of cases and may cause unilateral, stabbing chest pain. Arthritis, which may be seen in 25 percent of attacks, is manifested by single joint pain in the knee, ankle, or hip. The skin rash of FMF is a raised, erythematous rash that appears on the foot, ankle, or lower leg. Less common manifestations include muscle aches, scrotal inflammation, pericarditis, and vasculitis. Although the acute manifestations can be severe, most patients recover completely and are asymptomatic between attacks. […] The most common complication from untreated FMF is amyloidosis, which can lead to nephrotic syndrome and renal failure. Inflammation caused by FMF can also lead to infertility due to involvement of reproductive organs.

• #66 Familial Mediterranean fever—A review | Genetics in Medicine

  https://www.nature.com/articles/gim9201181

  The minimal and most current criteria for diagnosis of FMF are the Tel Hashomer clinical criteria. These are fever plus one more of the following major signs and one of the following minor signs, or fever plus two minor signs. The major signs include fever, abdominal pain, chest pain, skin eruption, and joint pain. […] The gene symbol for FMF is MEFV (Mediterranean fever), and the gene is situated at the chromosomal locus 16p13. […] The normal gene is a member of a family of nuclear factors homologous to the Ro52 autoantigen. It encodes a 3.7-kb transcript that is expressed exclusively in granulocytes, white blood cells important in the immune response. […] The assumption is that mutations in persons with FMF result in less IL-1 activation and as a consequence heightened IL-1 responsiveness, resulting in increased inflammatory attacks. […] The clinical picture of FMF in Arabs seems to be distinct, and the range and distribution of MEFV mutations are different from those noted in other ethnic groups. […] The carrier rate for FMF has been calculated to be as high as 1:31:7 in North African Jews, Iraqi Jews, Armenians, and Turks.

• #67 Familial Mediterranean fever – Wikipedia

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

  Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene, which encodes a 781-amino acid protein called pyrin. The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease. […] There are seven types of attacks. Ninety percent of all patients have their first attack before they are eighteen years old. All develop over two to four hours and last anywhere from six hours to five days. Most attacks involve fever. […] Abdominal attacks, featuring abdominal pain, affect the whole abdomen with all signs of peritonitis (inflammation of abdominal lining), and acute abdominal pain like appendicitis. They occur in 95 percent of all patients and may lead to unnecessary laparotomy. Incomplete attacks, with local tenderness and normal blood tests, have been reported.

• #68

  https://link.springer.com/article/10.1007/s11739-024-03576-w

  Several possible factors are hypothesized to trigger familial Mediterranean fever (FMF) attacks; however, there is no consensus on this matter. […] The most frequent triggering factor for familial Mediterranean fever attacks was psychological stress (75.2%). Cold exposure was a statistically significant trigger in patients with exon 10 mutations. Humidity was a statistically significant trigger in patients with exon 2 mutations. Seasonal changes, traveling for long durations, relocation, and cold exposure were statistically significant triggers of familial Mediterranean fever attacks in patients with homozygous M694V mutations. […] Patients can significantly decrease the number of familial Mediterranean fever attacks they experience by managing psychological stress and avoiding physical factors such as cold exposure and fatigue.

• #69 Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation | Egyptian Rheumatology and Rehabilitation | Full Text

  https://erar.springeropen.com/articles/10.1186/s43166-021-00106-w

  As regards the neurological manifestations, they were present in about 86.9 % of cases throughout the period of follow up. Vertigo was the most common manifestation as it was present in 22.8% (33 patients), paresthesia in 15.2%, while seizures was present in 12.4 % of the studied patients. Recurrent meningitis was reported in 9.7 % of the studied patients while pseudotumor cerebri presented in 9% . Less frequent symptoms were disorientation and cerebrovascular disorders as they were detected only in three, and one patient respectively. […] When a comparative study was done between these five major MEFV gene mutations according to the age of onset of the symptoms, different musculoskeletal and neurological manifestations, ESR, serum amyloid level, and dose of colchicine at the start of the disease and currently, no statistically significant difference was found.

• #70 Familial Mediterranean fever

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

  The major complication of FMF may result in kidney or liver failure and death. […] The frequency of episodes is variable, ranging from weekly to every few years. […] Acute attacks settle spontaneously. Between episodes, health is normal. […] 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. […] Colchicine, taken orally each day for life, is the drug of choice for familial Mediterranean fever to reduce the frequency of attacks, reduce the severity of attacks, prevent secondary systemic amyloidosis. […] Colchicine results in a marked improvement in symptoms for 90-95% of patients, and 75% have virtually complete remission.

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

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

  FMF is characterized by sporadic attacks of inflammation affecting the lining surfaces of body cavities. Symptoms include recurrent attacks of fever and severe abdominal, chest, or joint pain usually lasting no more than three days. […] These attacks can occur at varying intervals, but in between attacks, patients are usually asymptomatic. […] 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.

• #72 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. […] 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: […] Your health care provider is likely to ask you a number of questions, including: […] Have your symptoms been continuous, or do they come and go? […] What seems to trigger your symptoms, and what warning signs help you predict when they will occur? […] Do your symptoms seem to follow a pattern?

• #73 Familial Mediterranean Fever (FMF) – Autoinflammatory UK Rare Autoinflammatory

  http://www.autoinflammatory.uk/fmf-familial-mediterranean-fever/

  In a study of FMF in Kuwait, Barakat et al. (1986) reported on an 11-year experience with 175 Arab patients. […] The investigators noted that family history was positive in 62% of the children, which was not surprising in this autosomal recessive disorder given the 64% consanguinity rate in northern Jordan. […] The authors warned that the frequency of FMF among Jordanian Arab children was greater than previously estimated. […] The combination of positive family history of amyloidosis and consanguinity increased the risk of amyloidosis more than 6 fold. […] The attacks were completely suppressed by daily prophylactic colchicine but recurred when the drug was briefly discontinued. […] The response to treatment was good despite using low colchicine dosage. […] Tamir et al. (1999) characterized a late-onset form of FMF with distinct clinical, demographic, and molecular genetic characteristics.

• #74 What is familial Mediterranean fever? | UCLA

  https://newsroom.ucla.edu/stories/what-is-familial-mediterranean-fever-genetic-disorder

  Alexanders genetic test revealed he had characteristic FMF mutations. […] After a long and thorough consultation, 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. […] Its a rare disease, but in Los Angeles it doesnt seem so rare because we have many people from these populations at risk, said Dr. Wayne Grody, the programs co-director and a professor in the departments of pathology and laboratory medicine, pediatrics, and human genetics at the Geffen School of Medicine. […] About 15-20% of those with FMF do not respond to colchicine. […] A rheumatologist switched her from colchicine to canakinumab, an immunosuppressant which is injected into her thigh every four weeks. In the seven years since she began the treatment, she has only had two moderate flare-ups.

• #75 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 know there’s going to be a lot of stressors down the line that will flare him up: school, work, girlfriend, college. But hopefully, the medication will minimize those. […] About 15-20% of those with FMF do not respond to colchicine. […] A rheumatologist switched her from colchicine to canakinumab, an immunosuppressant which is injected into her thigh every four weeks. In the seven years since she began the treatment, she has only had two moderate flare-ups.

• #76 Familial Mediterranean Fever – Systemic Autoinflammatory Disease (SAID) Support

  http://saidsupport.org/disease-specific-information/familial-mediterranean-fever/

  Familial Mediterranean fever (FMF) is characterized by recurrent fevers that last an average of 12 to 72 hours. With the fever, patients can have abdominal pain, swollen joints, especially in the ankle, and other symptoms. Pleurisy and pain when breathing are also common symptoms. Most have their first symptoms before age 20. […] More detailed information on FMF, including symptoms and treatments, can be found at the links below: […] Research shows the most effective treatments for FMF are colchicine and biologics that target Il-1 (anakinra and canakinumab).

• #77 Familial Mediterranean Fever – StatPearls – NCBI Bookshelf

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

  The prognosis of FMF depends mainly on the frequency of the attacks and the development of complications. Generally, the attacks improve with the treatment and decrease in frequency with age. Certain genotypes such as 694V are associated with a higher risk of complications such as renal amyloidosis and more frequent attacks. Hence, they are associated with an adverse prognosis compared to other genotypes.

• #78 Familial Mediterranean Fever: Practice Essentials, Pathophysiology, Etiology

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

  Familial Mediterranean fever (FMF), also known as recurrent polyserositis, is a hereditary autoinflammatory disorder characterized mainly by brief recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. Attacks often begin in childhood; in approximately 90% of cases, clinical onset is before age 20 years. […] In patients with FMF, uninhibited pyrin activity results in uncontrolled production of interleukin-1 (IL-1), leading to episodes of inflammation (with accompanying fever) in the peritoneum, pleura, and joints; persistent subclinical inflammation is also common. […] Patients who are compliant with daily colchicine can probably expect to have a normal lifespan if colchicine is started before proteinuria develops. Patients with amyloidosis may develop an acute onset of kidney failure if they are stressed by dehydration, infection, or both. Even with amyloidosis, the use of colchicine, dialysis, and kidney transplantation should extend a patient’s life beyond age 50 years. […] Approximately 5% of patients with FMF develop chronic arthritis that sometimes leads to destructive arthritis of hips or knees and may necessitate joint replacements. Approximately 10% of patients with chronic arthritis develop seronegative spondyloarthropathy.

• #79 Familial Mediterranean fever (FMF) | Sobi

  https://www.sobi.com/en/familial-mediterranean-fever-fmf

  Without treatment, protein deposits called amyloids can build up in organs and tissues throughout the body. Amyloidosis is the name given to a group of rare, serious conditions caused by a build-up of amyloids. Amyloidosis especially affects the kidneys and can lead to kidney failure. […] Living a near-normal life is achievable for individuals with FMF. Most people with FMF can effectively control their symptoms and engage in regular activities. There is always the chance of an attack. But proactive management strategies can minimise the impact of an attack. Individuals with FMF can thus pursue fulfilling personal, social, and professional lives.

• #80 Familial Mediterranean fever (FMF) | Sobi

  https://www.sobi.com/en/familial-mediterranean-fever-fmf

  Without treatment, protein deposits called amyloids can build up in organs and tissues throughout the body. Amyloidosis is the name given to a group of rare, serious conditions caused by a build-up of amyloids. Amyloidosis especially affects the kidneys and can lead to kidney failure. […] Living a near-normal life is achievable for individuals with FMF. Most people with FMF can effectively control their symptoms and engage in regular activities. There is always the chance of an attack. But proactive management strategies can minimise the impact of an attack. Individuals with FMF can thus pursue fulfilling personal, social, and professional lives.

• #81 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

  Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. […] Self-limited inflammatory attacks of fever and polyserositis along with high acute phase response are the typical phenotype expected in FMF. The most significant complication of FMF is amyloidosis, and it is responsible for long-term morbidity and mortality. […] Colchicine is the mainstay of FMF treatment, and its regular use prevents attacks and suppresses chronic subclinical inflammation. Anti-IL-1 drugs emerged as promising treatment options in patients who fail to response or tolerate colchicine. […] 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.

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