Familial Mediterranean Fever (FMF)

Dr. Ayush PandeyMBBS,PG Diploma

December 01, 2018

March 06, 2020

Familial Mediterranean Fever
Familial Mediterranean Fever

What is Familial Mediterranean Fever (FMF)?

Familial Mediterranean Fever (FMF) is a disease transmitted via genetic defects that run through family members and is non-contagious. This disease is usually seen in the Mediterranean region and people of Middle Eastern origin. It is found to be prevalent in 1 in 200-1,000 persons. Fever episodes occur mostly before 20 years of age.

What are its signs and symptoms?

Symptoms are usually manifested in the first 10 years of life. The main symptoms include periodic fever, sometimes, it can present as skin eruptions or pain in the head. Joint oedema (swelling) may go up to 5-14 days. Most of the patients, around 80%-90%, experience the following:

What are its main causes?

It is an autosomal recessive type of disease which is caused due to the genetic defect in the MEFV gene. Some individuals may remain carriers and can pass the defective gene onto to their offspring. The gene influences a protein called pyrin which is responsible for the inflammatory processes. If this fever is left unnoticed, then amyloidosis, which is the abnormal accumulation of amyloid protein can occur, leading to kidney damage.

How is it diagnosed and treated?

There is a lack of diagnostic tests unique to FMF. Assessment of genetic abnormalities is a crucial part of the diagnosis. The patient’s medical history can help in finding out the diagnosis. Documentation of the recurrent fever may help in diagnosing the condition. Tests such as C-reactive protein, amyloid A, and presence of serum fibrinogen may be analysed in addition.

The most common treatment is the use of an anti-gout agent, which relieves symptoms. Other methods for acute attacks include:

  • Saline given intravenously to maintain water levels in the body
  • Non-steroidal anti-inflammatory medicines
  • Treatment of underlying kidney disease
  • Dialysis
  • Transplantation of kidneys

FMF may have a good prognosis if treated properly. Quality of lifecan be improved if the patient receives prompt and appropriate treatment. Even if complications arise, supportive treatments can prolong the life of patients.



References

  1. Kohei Fujikura. Global epidemiology of Familial Mediterranean fever mutations using population exome sequences. Mol Genet Genomic Med. 2015 Jul; 3(4): 272–282. PMID: 26247045
  2. American College of Rheumatology. Familial Mediterranean Fever. Georgia, United States. [internet].
  3. National Organization for Rare Disorders. Familial Mediterranean fever. USA. [internet].
  4. Genetic home reference. Familial Mediterranean fever. USA.gov U.S. Department of Health & Human Services. [internet].
  5. National Human Genome Research Institute. About Familial Mediterranean Fever. National Institutes of Health. [internet].