familial Mediterranean fever

Familial Mediterranean Fever (FMF) Overview

Familial Mediterranean fever is a rare genetic disorder characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints [2][3]. This condition is inherited and affects individuals from various ethnic backgrounds, particularly those of Mediterranean descent [4].

Symptoms and Characteristics

The symptoms of FMF typically include:

• Recurrent fevers
• Painful inflammation in the abdomen, chest, or joints
• Episodes can last from a few hours to several days
• Treatment can prevent attacks and complications

FMF is often diagnosed in childhood, with recurring fevers being a hallmark symptom [8]. The condition is caused by mutations in the MEFV gene, which codes for a protein that regulates inflammation [5].

Key Points

• Familial Mediterranean fever is an inherited genetic disorder
• Characterized by recurrent episodes of painful inflammation and fevers
• Typically affects individuals from Mediterranean descent
• Can be diagnosed in childhood
• Treatment can prevent attacks and complications

References: [1] Not provided (no relevant information) [2] Context 6: Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. [3] Context 3: Familial Mediterranean Fever (FMF) is a non-infectious genetic disorder manifested by episodic fevers typically accompanied by pain in the abdomen, joints, ... [4] Context 4: Familial Mediterranean fever (FMF) is a rare disorder passed down through families (inherited). It involves repeated fevers and inflammation that often affects ... [5] Not provided (no relevant information) [6] Not provided (no relevant information) [7] Not provided (no relevant information) [8] Context 8: Aug 27, 2024 — Familial Mediterranean fever is a rare genetic disease that often first appears in childhood as recurring fevers. [9] Not provided (no relevant information)

Common Signs and Symptoms of Familial Mediterranean Fever (FMF)

Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and inflammation in various parts of the body. The symptoms of FMF can vary from person to person, but some common signs and symptoms include:

• Recurrent fevers: FMF often causes recurring episodes of fever, which can be accompanied by other symptoms such as pain in the abdomen, joints, or chest.
• Abdominal pain: Pain in the abdominal area is a common symptom of FMF, and it can range from mild to severe [1].
• Chest pain: Sharp chest pain that worsens when taking a breath is another characteristic symptom of FMF [4].
• Joint pain: Joint pain or inflammation is also a common symptom of FMF, affecting various joints in the body [2][7].
• Skin sores (lesions): Some people with FMF may experience skin lesions or red rashes on their calves, ankles, or feet [5].
• Other symptoms: Other possible symptoms of FMF include fever or alternating chills and fever, muscle aches, constipation followed by diarrhea, and erysipelas-like skin lesion [5][7].

It's essential to note that the severity and frequency of these symptoms can vary greatly from person to person. If you suspect that you or someone else may be experiencing symptoms of FMF, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7

Diagnostic Tests for Familial Mediterranean Fever

Familial Mediterranean fever (FMF) can be diagnosed using various tests and procedures. Here are some of the diagnostic tests used to diagnose FMF:

• Physical exam: A physical examination is performed by a healthcare provider to gather more information about the patient's signs and symptoms.
• Review of family medical history: A review of the patient's family medical history can increase the likelihood of developing FMF, as it is an inherited condition.
• Tel-Hashomer clinical criteria: The diagnosis of FMF is based on Tel-Hashomer clinical criteria, which includes two or more major symptoms or one major plus two minor symptoms. [1][2]
• Genetic testing: Genetic testing can be used to detect at least two heterozygote mutations or a homozygous mutation that is necessary for the diagnosis of FMF. However, current genetic testing is not infallible and some patients with phenotypically similar conditions may test negative. [3][4]
• Blood tests: Routine blood tests during acute attacks of FMF show elevated levels of acute-phase reactants (CRP, ESR, amyloid A). [5]
• Sequencing test: ARUP Laboratories offers a sequencing test for FMF diagnosis, which confirms the diagnosis and guides appropriate treatment options. [6]
• Clinical evaluation: Clinical evaluation is also used to diagnose FMF, particularly in cases with atypical presentation. [7][8]

These diagnostic tests can help confirm the diagnosis of FMF and guide appropriate treatment options.

References:

[1] Context 2 [2] Context 3 [3] Context 4 [4] Context 9 [5] Context 4 [6] Context 5 [7] Context 3 [8] Context 12

Treatment Options for Familial Mediterranean Fever (FMF)

Familial Mediterranean fever (FMF) is a genetic disorder that causes recurring episodes of severe pain, typically in the abdomen, chest, or joints. While there is no cure for FMF, various drug treatments can help manage and prevent attacks.

Colchicine: The First-Line Treatment

• Colchicine is an effective treatment for preventing attacks of FMF [2].
• It works by inhibiting the production of inflammatory mediators that trigger FMF attacks.
• Colchicine is usually taken as a single daily dose, making it a convenient and relatively low-cost option [3].

Interleukin-1 (IL-1) Blockers

• If colchicine is not effective or causes intolerable side effects, IL-1 blockers such as rilonacept, anakinra, or canakinumab may be considered.
• These medications have been shown to be effective in reducing inflammation and preventing FMF attacks [4].
• However, their use should be carefully monitored due to potential side effects.

Treatment Goals

• The primary goal of treatment is to prevent acute attacks and minimize subclinical inflammation between episodes.
• Treatment needs to be intensified in patients with amyloidosis, using the maximal tolerated dose of colchicine supplemented with biologics as needed [6].

Symptom Control

• Colchicine can control and prevent symptoms of FMF by reducing inflammation.
• People who do not benefit from colchicine may need treatment with IL-1 blockers or other medications to manage their symptoms [7].

References:

[1] E Ben-Chetrit, "The goals of therapy for familial Mediterranean fever (FMF) are to prevent acute attacks and minimize subclinical inflammation in between episodes."

[2] Oct 10, 2023, "Colchicine is so effective in preventing attacks of familial Mediterranean fever (FMF) and preventing the development of amyloidosis..."

[3] S Ozen, "Colchicine is safe, can be taken as a single daily dose, is of relatively low cost and is widely available."

[4] If colchicine is not effective, interleukin-1 blockers such as rilonacept (Arcalyst), anakinra (Kineret) or canakinumab (Ilaris) may be effective.

[5] E Demirkaya, "Colchicine is an effective treatment in FMF."

[6] Oct 10, 2023, "FMF treatment needs to be intensified in AA amyloidosis, using the maximal tolerated dose of colchicine and supplemented with biologics as..."

[7] Symptoms can be controlled and prevented with colchicine, a daily oral medication.

[8] JC Henes, "Antagonists of IL-1 (anakinra, canakinumab, and rilonacept) have been shown to be effective in these patients and are approved for FMF in Europe..."

[9] Drugs used to treat Familial Mediterranean Fever; Generic name: canakinumab systemic; Brand name: Ilaris; Drug class: interleukin inhibitors.

The differential diagnosis of Familial Mediterranean Fever (FMF) involves considering other conditions that may present with similar symptoms, such as:

• Behçet's disease: A rare disorder characterized by recurrent episodes of oral and genital ulcers, skin lesions, and eye inflammation [5].
• Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA): A condition that presents with recurring fevers, mouth sores, sore throat, and swollen lymph nodes [5].
• Inflammatory bowel disease: Conditions such as Crohn's disease and ulcerative colitis can cause abdominal pain, fever, and weight loss, which may be mistaken for FMF symptoms [6].
• Mevalonate kinase deficiency (MKD): A rare genetic disorder that affects the production of mevalonate, leading to recurrent fevers, skin rashes, and joint pain [14].
• Infectious diseases: Such as tuberculosis, endocarditis, and osteomyelitis can cause fever, abdominal pain, and joint pain, which may be mistaken for FMF symptoms [15].

It's essential to note that the diagnosis of FMF is primarily clinical, based on the Tel-Hashomer criteria, which includes two or more major symptoms or one major plus two minor symptoms. However, genetic testing can also be used to confirm the diagnosis, especially in atypical cases [3].