Familial Mediterranean Fever

Updated: May 13, 2024

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Background

Familial Mediterranean Fever (FMF) is a genetic disorder which occurs due to repetitive episodes of fever. 

FMF is a condition originates from mutations in the MEFV gene which is responsible for encoding a protein called pyrin. 

The frequent episodes of attacks develop abdominal pain, chest pain, and skin rash in individuals that usually stays for 1 to 3 days. 

Epidemiology

The prevalence of FMF in European and American Jewish individuals is one case per 73,000 peoples. 

FMF is more prevalent in adults among men than women and the incidence of onset in individuals over 40 years old is rare. 

Mediterranean families converted to other ethnic groups to survive persecution and carry the MEFV gene. 

 

Anatomy

Pathophysiology

Mutations in the MEFV gene occur in dysregulated inflammatory pathways which lead to episodic inflammation attacks. 

Mutations in the MEFV gene disrupt role of pyrin and it inhibits inflammasome activation which increases interleukin-1β production. 

Pyrin is very important in the regulation of inflammasomes and multiprotein complexes as they initiate inflammatory responses. 

Etiology

FMF is a genetic disorder caused by mutations in the MEFV gene and it is located on the 16th arm of chromosome. 

More than 310 cases of MEFV gene sequence variants have been identified with some mutations are more prevalent in specific ethnic groups and patients inheriting different mutations from each parent. 

Genetics

Prognostic Factors

Patients who take daily colchicine may expect a normal lifespan if started before proteinuria develops. 

Regular use of colchicine decreases the frequency and severity of FMF episodes and reduce the risk of complications. 

The use of colchicine in dialysis, and kidney transplantation is extended beyond the age of 50 in patient’s life. 

Clinical History

FMF usually starts in childhood, with the first episode occurring before the age of 20. 

Physical Examination

Assessment of vital signs 

Neurological Examination 

Joint Examination  

Age group

Associated comorbidity

Associated activity

Acuity of presentation

FMF is a condition in which recurring acute episodes of inflammation are observed and they stay for minimum 1 to 3 days. 

FMF attacks start suddenly and reach to their peak intensity within a short quick time. 

Differential Diagnoses

Autoimmune Disorders 

Infectious Diseases 

Autoinflammatory Disorders 

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Physicians should immediately start colchicine drug as soon as the patient is diagnosed. The standard dose is up to 1 to 2 mg daily. 

Enough sleep and proper fluid intake will give relief to patients from pain and help them to recover quickly from acute attacks.  

Patients should do regular exercise and take a healthy diet as part of lifestyle modification to reduce the frequency pf FMF attacks.  

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

use-of-a-non-pharmacological-approach-for-familial-mediterranean-fever

Patients should stop consuming alcohol along with smoking because this may increase the chance of inflammation.  

Patients should live in adequate conditions with good ventilation, air quality, maintain body weight and take proper sleep.  

Provide enough education about trench fever and its related causes, how it spreads, and how to stop with management strategies. 

Use of Anti-inflammatory agents

Colchicine: It reduces the inflammatory response associated with FMF episodes, which inhibits microtubule polymerization and interferes with neutrophil function. 

Colchicine therapy is given the first preference by physicians in treating FMF patients because it gives good results.  

 

Use of Interleukin Inhibitors

Canakinumab: It is a monoclonal antibody that reduces inflammation and prevents FMF attacks. 

Their action allows less frequent dosing compared to other biologic agents targeting interleukin-1β. 

use-of-intervention-with-a-procedure-in-treating-familial-mediterranean-fever

Amyloidosis suspected in gastrointestinal tract may require further examination to confirm the diagnosis and assess the extent of organ involvement. 

Kidney transplantation was performed in patients with end-stage renal disease caused by amyloid nephropathy then they can start colchicine therapy. 

use-of-phases-in-managing-familial-mediterranean-fever

In the initial diagnosis phase, the physician assesses symptoms related to FMF during acute episodes, including fever, chest pain, joint pain, and abdominal pain.  

In the supportive care and preventive measures phase all necessary steps should be taken by physicians to enhance the quality of life of the patient. 

Regular follow-up visits with medical physicians are required to check the improvement of patients and newly observed complaints. 

 

Medication

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Familial Mediterranean Fever

Updated : May 13, 2024

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Familial Mediterranean Fever (FMF) is a genetic disorder which occurs due to repetitive episodes of fever. 

FMF is a condition originates from mutations in the MEFV gene which is responsible for encoding a protein called pyrin. 

The frequent episodes of attacks develop abdominal pain, chest pain, and skin rash in individuals that usually stays for 1 to 3 days. 

The prevalence of FMF in European and American Jewish individuals is one case per 73,000 peoples. 

FMF is more prevalent in adults among men than women and the incidence of onset in individuals over 40 years old is rare. 

Mediterranean families converted to other ethnic groups to survive persecution and carry the MEFV gene. 

 

Mutations in the MEFV gene occur in dysregulated inflammatory pathways which lead to episodic inflammation attacks. 

Mutations in the MEFV gene disrupt role of pyrin and it inhibits inflammasome activation which increases interleukin-1β production. 

Pyrin is very important in the regulation of inflammasomes and multiprotein complexes as they initiate inflammatory responses. 

FMF is a genetic disorder caused by mutations in the MEFV gene and it is located on the 16th arm of chromosome. 

More than 310 cases of MEFV gene sequence variants have been identified with some mutations are more prevalent in specific ethnic groups and patients inheriting different mutations from each parent. 

Patients who take daily colchicine may expect a normal lifespan if started before proteinuria develops. 

Regular use of colchicine decreases the frequency and severity of FMF episodes and reduce the risk of complications. 

The use of colchicine in dialysis, and kidney transplantation is extended beyond the age of 50 in patient’s life. 

FMF usually starts in childhood, with the first episode occurring before the age of 20. 

Assessment of vital signs 

Neurological Examination 

Joint Examination  

FMF is a condition in which recurring acute episodes of inflammation are observed and they stay for minimum 1 to 3 days. 

FMF attacks start suddenly and reach to their peak intensity within a short quick time. 

Autoimmune Disorders 

Infectious Diseases 

Autoinflammatory Disorders 

Physicians should immediately start colchicine drug as soon as the patient is diagnosed. The standard dose is up to 1 to 2 mg daily. 

Enough sleep and proper fluid intake will give relief to patients from pain and help them to recover quickly from acute attacks.  

Patients should do regular exercise and take a healthy diet as part of lifestyle modification to reduce the frequency pf FMF attacks.  

Rheumatology

Patients should stop consuming alcohol along with smoking because this may increase the chance of inflammation.  

Patients should live in adequate conditions with good ventilation, air quality, maintain body weight and take proper sleep.  

Provide enough education about trench fever and its related causes, how it spreads, and how to stop with management strategies. 

Rheumatology

Colchicine: It reduces the inflammatory response associated with FMF episodes, which inhibits microtubule polymerization and interferes with neutrophil function. 

Colchicine therapy is given the first preference by physicians in treating FMF patients because it gives good results.  

 

Rheumatology

Canakinumab: It is a monoclonal antibody that reduces inflammation and prevents FMF attacks. 

Their action allows less frequent dosing compared to other biologic agents targeting interleukin-1β. 

Rheumatology

Amyloidosis suspected in gastrointestinal tract may require further examination to confirm the diagnosis and assess the extent of organ involvement. 

Kidney transplantation was performed in patients with end-stage renal disease caused by amyloid nephropathy then they can start colchicine therapy. 

Rheumatology

In the initial diagnosis phase, the physician assesses symptoms related to FMF during acute episodes, including fever, chest pain, joint pain, and abdominal pain.  

In the supportive care and preventive measures phase all necessary steps should be taken by physicians to enhance the quality of life of the patient. 

Regular follow-up visits with medical physicians are required to check the improvement of patients and newly observed complaints. 

 

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