Familial Mediterranean fever : Causes-Symptoms-Diagnosis-Treatment

 What is Familial Mediterranean fever (FMF)?

Familial Mediterranean fever (FMF) is an inheritable autoinflammatory disease characterized by perennial episodes (attacks) of fever and acute inflammation of the membranes lining the abdomen, joints, and lungs. In some cases, affected people might develop skin rashes (erysipelas like erythema) touching the lower legs. Less often, inflammation of the membrane lining the guts or covering the brain and neural structure might occur. Some people might develop a significant condition called unwellness, within which certain proteins known as amyloid accumulate in numerous tissues of the body. In FMF, amyloid accumulates within the excretory organs (renal amyloidosis) wherever it will impair kidney performance and probably lead to grave complications like failure. The precise symptoms and severity of FMF square measure are extremely variable. Some people develop unwellness, however none of the opposite symptoms are related to FMF. These cases square measure generally cited as FMF sort a pair of. FMF is caused by mutations of the brucellosis (MEFV) cistron, which is essentially inheritable as an chromosome recessive attribute. Some cases of dominant inheritance are delineated.

What is Familial Mediterranean fever (FMF)?
Familial Mediterranean fever 

Familial brucellosis (FMF) may be a rare genetic abnormality that runs in families. Most often, it affects folks whose ancestors came from countries around the sea and also the geographical area. This includes ethnic teams like Arabs, Armenians, Sephardic or geographical region Jews, Turks, Greeks, and Italians.

FMF is associated with autoinflammatory syndrome. which means you've got revenant episodes of inflammation and fevers associated with a defect in your innate system. It’s the foremost common autoinflammatory syndrome. It’s additionally known as hereditary periodic fever syndrome.

Nearly all folks with FMF begin having periodic fevers before age twenty. Three-quarters of individuals with this condition have their initial episodes before age ten. All genders will catch on.

  1. Medical And Anatomical Concept Of The Human Body

Medical terms

  • Familial Mediterranean fever (FMF) is a rare inherited syndrome characterized by recurrent episodes of fever typically in the absence of another apparent cause The disease occurs as an autosomal-recessive trait and has variable penetrance Persons with FMF experience attacks that can last for up to several weeks and may recur several times over the course of a year Attacks of fever are associated with inflammation in the joints and soft tissues; they are also accompanied by constitutional symptoms such as headache myalgias arthralgias abdominal pain and diarrhea In severe cases attacks may be associated with serositis and/or.

  • Fever is a genetic disorder It is characterized by recurrent attacks of fever and inflammation in the lining of the abdomen or joints The cause of this disease has not been identified but it seems to be related to an immune response that occurs during an infection in some patients Attacks usually occur after exposure to high heat surgery or stress Med-fever can affect anyone at any age but mostly affects males between the ages of 20 and 50 years old A family history of med-fever is common among those with the condition but having this.

  • Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes repeated fevers and painful inflammation of your abdomen, chest and joints.

  • FMF is an associate degree genetic disorder that sometimes happens in individuals of Mediterranean origin — together with those of someone, Arab, Armenian, Turkish, geographical area, Greek or Italian ancestry. however it will have an effect on individuals in any ethnos.

  • FMF is often diagnosed throughout childhood. whereas there is no cure for this disorder, you'll be able to relieve or maybe forestall signs and symptoms of FMF by following your treatment set up.

FMF is classed as associate degree autoinflammatory syndrome. Autoinflammatory syndromes are a bunch of disorders characterized by repeated episodes of inflammation thanks to associate degree abnormality of the innate system. they're not identical as response syndromes, within which the adjustive system malfunctions and erroneously attacks healthy tissue. FMF is the most typical autoinflammatory syndrome. It's additionally classified as a hereditary periodic fever syndrome.

FMF typically happens throughout childhood. The inflammatory attacks last 1-3 days. The end result is nice in patients treated early. Though episodes of FMF will occur ad libitum for no recognizable reason, sure triggers are known in some cases. These triggers embrace infection, trauma, vigorous exercise, and stress. In women, onset of their amount (menses) will trigger an associate degree episode. 

Symptoms Familial Mediterranean fever (FMF)

The symptoms and severity of FMF will vary greatly from one person to a different, even among members of an identical family. The classic variety of FMF is characterized by short, continual episodes (attacks) of inflammation. These episodes typically occur unexpectedly and may last anyplace from one to four days. The period and severity of episodes (both in several individuals and even identical persons) aren't consistent. In between episodes, affected people are sometimes symptom-free and feel traditional. The number of your time between episodes can vary and may vary from per week to a couple of months. In several cases, the initial episode happens in infancy or babyhood. Most affected people experience their initial episode before the age of twenty.

Approximately fifty % of people with FMF experience a sensation of poor health or unpleasantness that precedes the onset of an associate degree episode of FMF. This can be stated as a symptom or symptom part. Attacks will be triggered by fatigue, stress or physical effort.

Recurrent fevers throughout babyhood are typically the initial symptom of FMF. Temperatures will rise apace typically spiking to 100-104 degrees physicist (or up to >40 degrees Celsius). Episodes of fever will occur alone or in association with any or all of the symptoms mentioned below. throughout gentle episodes, fevers might occur while not further symptoms. In some people, continual fevers throughout childhood will be the sole symptom related to FMF.

Along with chronic episodes of fever, serositis is another common symptom of FMF. Serositis refers to inflammation of assorted humor tissues of the body. Humor tissues embody the membranes that line the abdomen, lungs, and heart.

Approximately ninety % of people with FMF experience abdominal symptoms that may vary from gentle bloating to inflammation of the liner of the abdomen (peritonitis). Abdominal symptoms will coincide with the onset of fever. Abdominal pain or tenderness is common and therefore the abdominal muscles are typically perceptibly rigid and tight, typically represented as “board-like.” The abdomen is usually swollen (distended). Some people might develop constipation throughout the associate degree abdominal episode, typically followed by looseness of the bowels once the associate degree episode ends. Affected people are typically misdiagnosed as having acute abdomen (peritonitis) and will bear inessential surgery.

Approximately seventy five % of affected people experience joint pain (arthralgia) and inflammation (arthritis) thanks to inflammation of the membrane (synovium) lining the joints. Pain, which might be among swelling, will be severe. Throughout the associate degree episode, the motion of affected joints will be restricted. Episodes of inflammatory disease will begin suddenly and typically subside among seven days. Joint performance sometimes returns to tradition once the associate degree episode ends. However, in some cases, these joint problems will continue for many weeks or months. In some cases, episodes are triggered by minor trauma or sustained sweat like prolonged walking. Most episodes involve one amongst the massive joints of the leg (i.e., knee, articulatio plana or hip). In rare cases, continual inflammatory disease of 1 joint will be the sole symptom of FMF.

Some affected people may expertise pain thanks to inflammation of the skinny membrane (pleura) that lines the lungs (pleuritis). Episodes sometimes seem sudden and resolve quickly after forty eight hours. Affected people will experience painful respiration and diminished respiration sounds on the affected aspect of the lungs. Shortness of breath and speedy, shallow respiration may occur.

Some people with FMF might develop a doubtless serious complication called illness. illness is characterized by the buildup of a fatty-like substance known as amyloid in varied elements of the body. In FMF, amyloid accumulates within the kidneys (renal amyloidosis), impairing excretory organ performance. Urinary organ illness will eventually cause failure. The prevalence of illness varies primarily based upon quality, gender and therefore the specific mutation of the MEFV factor. sure ethnic populations as well as people of Turkish or Sephardic Judaic descent have a comparatively high incidence of illness compared to people from alternative ethnic teams. People with FMF kind of develop an illness, however none of the opposite symptoms are related to FMF.

Some people with FMF have painful, swollen and bright red (erythematous) skin lesions on the lower legs. These lesions agree with a skin infection known as Saint Anthony's fire. they'll be hot or hot to the bit and most frequently occur between the articulatio plana and therefore the knee.

Less often, further symptoms will have an effect on people with FMF as well as inflammation of the sac-like membrane (pericardium) lining the guts (pericarditis). Carditis is also related to pain behind the sternum (sternum) that's worse upon swallowing. Inflammation of the membranes (meninges) lining the brain and neural structure (meningitis) may occur and will cause headaches. Headaches may occur independently of infectious disease.

Another occasional symptom related to FMF is muscle pain (myalgia), that is usually severe and may be widespread (diffuse) and disabling. In conjunction with fever, myodynia will occur with abdominal and joint pain and looseness of the bowels. hurting episodes will last for a brief time or longer, even up to 6 to eight weeks (protracted febrile myalgia).

Untreated people with FMF have a risk of sterility. People with severe FMF characterized by multiple frequent episodes and/or illness are notably in danger if untreated. In males, inflammation of the testes (orchitis) may occur. inflammation is characterized by pain, redness and swelling.

Enlargement of the spleen can even occur (splenomegaly) and is kind of frequent in kids.

According to the medical literature, some people with FMF have associate degree inflated risk of developing further inflammatory disorders, particularly those characterized by inflammation of the blood vessels (vasculitides), as well as Bechet’s malady, disease, and Henoch-Schonlein blood disorder. Affected people may have a larger risk of developing colitis, Crohn’s malady and arthritis. (For additional data on these disorders, select the precise disorder name as your search term within the Rare malady information.)

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.

When to see a doctor

See your health care supplier if you or your kid features a fulminant fever in the midst of pain within the abdomen, chest and joints.

What drugs should be avoided in familial Mediterranean fever?

Onions as well as foods that contain high amounts of vitamin K should be avoided These include spinach broccoli Brussels sprouts and green beans People who suffer from familial Mediterranean fever should also avoid drugs with NSAIDs (nonsteroidal anti-inflammatory drugs) such as aspirin and ibuprofen This is because these drugs increase the risk for developing a fever during an attack of familial Mediterranean fever.

How does colchicine treat familial Mediterranean fever?

Colchicine is a drug used to treat familial Mediterranean fever Similar to other drugs that are used to treat autoimmune disorders colchicine reduces the body's immune response and decreases inflammation However colchicine specifically targets cells in the gouty joints This drug helps relieve pain from chronic gout flares as well as prevent new flare-ups until a person can receive additional treatment for their condition.

How common is familial Mediterranean fever?

Familial Mediterranean fever affects only about 1 in 1,500 people The majority of people with the condition inherit it from a parent However some cases are caused by a gene mutation in the child.

What causes FMF flare ups?

FMS flares commonly follow stressful life events such as moving house or a traumatic loss It's unclear exactly why this happens because pain is known to be associated with stress responses There is no specific evidence that acute stress causes your symptoms but there is good evidence that the brain plays an important role in the perception of pain which may explain how FM can recur when you are stressed or worried about something.

Causes Familial Mediterranean fever (FMF)

Familial Mediterranean fever is caused by a factor modification (mutation) that is passed from folks to kids. The factor modification affects the operation of an associated system supermolecule known as pyrin, inflicting issues in controlling inflammation within the body.

In folks with FMF, modification happens during a factor known as MEFV. many various changes in the MEFV area unit joined to FMF. Some changes might cause terribly severe cases, whereas others might end in milder signs and symptoms.

It's unclear what specifically triggers attacks, however they will occur with emotional stress, catamenia, exposure to cold, and physical stress like malady or injury.

FMF is caused by a mutation during a factor known as MEFV. kids WHO have it always inherit copies of the faulty MEFV factor from each folks. Some will develop symptoms that area unit terribly almost like FMF though they inherit only 1 copy of the faulty factor from one parent. There are quite three hundred completely different MEFV mutations, however solely a number of cause FMF.

MEVF may be a factor that creates a supermolecule known as pyrin. Pyrin looks to play a job in however your body’s system functions. If you've got an associated MEFV point mutation, your body doesn’t create enough pyrin. As a result, your system might create an excessive amount of associated inflammatory protein known as interleukin-1B. That causes continual bouts of inflammation and fevers. 

Risk factors Familial Mediterranean fever (FMF)

Factors that may increase the risk of familial Mediterranean fever include:

  • Family history of the disorder. If you have a family history of FMF, you have a higher risk of the disorder.

  • Mediterranean ancestry. If your family will trace its history to the Mediterranean region, your risk of the disorder is also magnified. FMF will have an effect on folks in any ethnos, however it should be a lot of seemingly in folks of soul, Arab, Armenian, Turkish, geographic region, Greek or Italian descent. 

Complications Familial Mediterranean fever

Complications can occur if familial Mediterranean fever isn't treated. Inflammation can lead to complications such as:

  • Amyloidosis. During attacks of FMF, your body may produce a protein called amyloid A, not typically found in the body. Buildup of this protein causes inflammation, which can cause organ damage.

  • Kidney damage. Amyloidosis will harm the kidneys, inflicting syndrome. syndrome happens once your kidneys' filtering systems (glomeruli) are broken. folks with syndrome could lose giant amounts of supermolecule in their piss. syndrome will result in blood clots in your kidneys (renal vein thrombosis) or renal failure. 

  • Joint pain. Arthritis is common in people with FMF. The most commonly affected joints are the knees, ankles and hips.

  • Infertility. Untreated inflammation caused by FMF may affect the reproductive organs, causing infertility.

  • Other complications. These can include inflammation in the heart, lungs, spleen, brain and superficial veins.

Diagnosis Familial Mediterranean fever (FMF)

A diagnosing of FMF relies upon identification of characteristic symptoms, a close patient history, a radical clinical analysis and a range of specialized tests. These tests will aid in getting a diagnosis of FMF or in assessing the extent of the disorder. Prompt diagnosing in FMF is vital to avoid misdiagnosis and supererogatory surgery (as several kids square measure misdiagnosed as having appendicitis).

Clinical Testing and Work-Up

During the associate episode, a biopsy referred to as associate RBC ESR is also performed. ESR measures however long it takes red blood cells (erythrocytes) to settle in an exceedingly large tube over a given amount. Several people with FMF have associated elevated ESR, which is a sign of inflammation. Blood tests can even reveal elevated levels white somatic cell levels, that square measure indicative of associate system response, elevated CRP, that is elevated during times of inflammation, and/or elevated levels of coagulation factor (a substance that helps stop bleeding). However, these tests square measure solely effective throughout the associate episode of FMF, and that they come back to traditional or close to traditional once associate episode ends.

Urinary examination could reveal excess loss of a macromolecule referred to as albumen, which might be indicative of nephropathy.

A diagnosis of FMF will be confirmed by molecular genetic testing, which might establish the characteristic MEFV cistron mutations that cause the disorder. Molecular genetic testing is on the market through industrial and tutorial diagnostic laboratories.

Tests and procedures used to diagnose familial Mediterranean fever include:

  • Physical exam. Your health care provider may ask you about your signs and symptoms and do a physical exam to gather more information.

  • Review of your family medical history. A family history of FMF increases your likelihood of developing the condition because this genetic change is passed from parents to their children.

  • Lab tests. During AN attack, blood ANd piddle tests might show elevated levels of bound markers that indicate an inflammatory condition in your body. AN elevated level of white blood cells, that fight infections, is one such marker. a macromolecule within the piddle that will indicate sickness is another. 

  • Genetic testing. Genetic testing could verify if your MEFV factor contains a factor amendment that's related to FMF. Genetic tests are not advanced enough to check for each factor amendment that is connected to FMF, thus there's a break of false-negative results. For this reason, health care suppliers usually do not use genetic tests because the sole methodology of designation is FMF.
    Genetic testing for FMF is also suggested for your first-degree relatives, like oldsters, siblings or youngsters, or for alternative relatives United Nations agency is also in danger. counseling will assist you perceive factor changes and their effects. 

Treatment Familial Mediterranean fever (FMF)

There's no cure for familial Mediterranean fever. However, treatment can help relieve symptoms, prevent attacks and prevent complications caused by inflammation.

Colchicine may be a generic drug that controls inflammation in FMF. It’s taken as a pill once or twice every day. Colchicine will forestall FMF flares, however if you or your kid is already having an associated episode, the drug won’t treat it. Colchicine must be taken often to figure. Flares will come if you miss even one dose. youngsters UN agency take colchicine often will have a full, traditional life with FMF.

Colchicine’s most typical facet effects square measure abdominal pain and symptoms. Your doctor will scale back your child’s dose for a bit whereas facet effects occur. Milk and different farm merchandise might trigger these facet effects, therefore trim on milk or switch to lactose-free farm merchandise. Colchicine may additionally cause nausea, vomiting, or belly cramps.

Medications used to relieve symptoms and prevent attacks of FMF include:

  • Colchicine. Colchicine (Colcrys), taken in pill type, reduces inflammation in your body and helps stop attacks and therefore the development of unwellness. Work along with your doctor to see the simplest dosing strategy for you. Some folks take one dose every day, whereas others want smaller, more-frequent doses. Common aspect effects embrace abdominal pain, nausea and looseness of the bowels. Treatment is usually long. 

  • Other drugs to prevent inflammation. For individuals whose signs and symptoms are not controlled with colchicine, medications that block a macromolecule referred to as interleukin-1, that is concerned in inflammation, could also be prescribed. Canakinumab (Ilaris) is approved by the U.S. Food and Drug Administration (FDA) for FMF. Though not FDA-approved specifically for FMF, alternative choices embrace rilonacept (Arcalyst) and anakinra (Kineret).
    Colchicine is effective in preventing attacks for many individuals. to reduce the severity of symptoms throughout associate attack, your health care supplier might suggest blood vessel fluids and medications to scale back fever and inflammation and manage pain.
    Regular appointments along with your health care supplier area unit vital to watch your medications and your health. 

Coping and support

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:

  • Learn about FMF. Find out enough concerning FMF in order that you're feeling snug creating selections concerning your or your child's care. raise your health care supplier permanently sources of data to induce you to start. 

  • Find someone to talk with. Talking to a friend, sure friend, or a counselor or healer will enable you to precise your fears and frustrations. Some folks additionally notice support teams are useful as a result of members really perceiving what you are going through. raise your health care supplier if there's a support cluster for those who have FMF in your space. 

Preparing for your appointment

If you have got signs and symptoms of familial Malta fever, you'll begin by seeing your family health care supplier. Your health care supplier might refer you to a specialist in inflammatory diseases (rheumatologist).

Because appointments may be transient, and since there is usually loads to debate, it is a smart plan to arrive ready. Here's some data to assist you prepare for your appointment.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet to prepare for testing.

  • Make a list of any symptoms you're experiencing, including any that may seem unrelated to the reason for the appointment.

  • Make a list of key personal information, including any major stresses or recent life changes.

  • Make a list of all medications, vitamins or supplements that you're taking, and the doses.

  • Consider taking a family member or friend along. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.

  • Make a list of questions to ask your healthcare provider.

Your time together with your health care supplier is proscribed, therefore getting ready an inventory of queries will assist you create the foremost of it slowly along. List your queries from necessary|most vital|most significant} to least important just in case time runs out. queries you may need to raise include:

  • What do you think is causing my or my child's symptoms?

  • What caused this condition?

  • What treatments are available?

  • What are the possible side effects of treatment?

  • Are there any other possible treatments?

  • If other health problems are present, how can they be treated as well?

  • Are there any restrictions on activity?

  • Should my family members be tested?

  • If I want to have more children, can I protect them from this disorder?

What to expect from your doctor

Your health care provider is likely to ask you a number of questions, including:

  • When did you first begin experiencing symptoms?

  • Have your symptoms been continuous, or do they come and go?

  • How long do your symptoms last?

  • What seems to trigger your symptoms, and what warning signs help you predict when they will occur?

  • Is there anything you do to stop or lessen the severity of your symptoms?

  • Do your symptoms seem to follow a pattern?

  • Do you have blood relatives with familial Mediterranean fever?

General summary

  1. There is no specific treatment for FMF attack itself and treatment is directed toward the symptoms In most cases pain medications such as ibuprofen or acetaminophen help ease the fever Malaria-like symptoms can be treated with Tylenol For those who suffer from severe heartburn acid reflux or nausea prescription medication may be necessary Extra fluids are advised to reduce the possibility of dehydration.

  2. Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease that's caused by mutations in any one of three genes: MEFV pyrin and MPO In susceptible people these gene mutations cause the body's immune system to react as if an infection has taken hold when it really hasn't The reaction occurs in small blood vessels throughout the body It manifests itself mainly in attacks of fever joint pain and swelling Attacks typically last several days before disappearing on their own without treatment.

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