Familiar Mediterranean Fever (FMF) 4.75/5 (4)

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FMF begins in children, most often with many, otherwise unexplained, episodes of fever and pain. Pixabay, CC0

(ICD-10 E85.0)

Definition

Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that causes episodes of high fever, inflammation of the connective tissue of the stomach area (peritonitis), lungs (pleurisy), the heart (pericarditis) and joints (Arthritis)

Occurrence

Family Mediterranean fever (FMF) is the most common among them Auto-inflammatory diseases / Fever syndromes.

  • Debut age is usually before 20 years (90%)
  • Ethnically, FMF is most commonly seen among Jews, Arabs, Turks and North Africans, less frequently among Greeks and Italians.
  • Prevalence 1-5 / 10.000.

Genetics

Autosomal recessive inheritance (disease genes from both parents are required to obtain FMF).

Symptoms

Often debut in children, usually before the age of 5X

  • Strong pain, most often in the stomach area (peritonitis) at 80%
  • High fever lasting 1-3 days
  • Spontaneous rapid recovery and symptom freedom before the next attack
  • Attaks can be triggered by physical or emotional stress
  • Pain in the chest (lungs) is seen in 15-30% and is caused by pulmonary inflammation (pleurisy) on one or both sides (uni- or bilateral)
  • Chest pain may also be pain transfer from the abdominal area (below the diaphragm)
  • Joint inflammation (synovitis /arthritis) (swollen and warm joints) are less common, most often among North Africans. Most common in the knees and ankles, less frequently in the hip, elbow or iliac sac (between lower back and pelvis)
  • Arthritis can migrate from joints to joints as in Rheumatic fever
  • Erysipelas-like rash on the legs, most often in children (25%)
  • Pericarditis (symptoms: heart pain) (below 1%)
  • Orchitis, pain and swelling in scrotum

Blood tests

Inflammation tests with high CRP are seen over 3-5 days, the lowering reaction (SR) increases more slowly.

  • Between fever episodes, CRP and SR can be slightly elevated
  • Leukocytosis (increased white blood cell count)
  • Fibrinogen increased

Diagnosis

  • Recurrent (recurrent) fever of 1-3 days duration. Symptom-free periods of weeks-months
  • Related to fever, stomach ache is most common, chest pain somewhat less frequent. Arthritis and skin symptoms may occur
  • Ethnicity
  • Blood samples with increasing CRP
  • Cochicine response (good: 72%, partial: 15%, non-response: 15%)
  • Gentest (MEFV gene) (see above)

Criteria for classification

Incorrect diagnosis (similar conditions / differential diagnoses)

Treatment

  • Acute episodes and preventive: Colchicine
    • 90-95% has effect
  • Preventive (also reduces AA-amyloidosisrisks,). Lifelong Treatment:
    • Colchicine (0,5mg, NAF, "Pharmacy", refund in Norway for each individual ("blue prescription" is available only for crystal art: point 9, paragraph 3d)
      • Prophylaxis dose 0,5-1,5mg / day:
        • 72% good response (judged by frequency, severity and duration of episodes)
        • 15% partial response
        • 13% without response
      • Can also be taken in early (prodromal) symptoms
      • The recommended dose in adults is 0,5 mg x 2
      • This dose rarely produces adverse effects even if it is used as lifelong treatment
      • Nausea (9%), diarrhea (7%) passes at a reduced dose or if a user is given Imodium against diarrhea
      • Azoospermia (reduced number of sperm) may occur, but can also be seen at amyloidosis (which can be developed eventually if one is not treated)
    • Colchicine is started when the diagnosis is definite and should be prolonged
    • Colchisine may be given during pregnancy if necessary
    • In severely reduced (GFR <10ml / min), the dose is halved

Pregnancy

Colchicine is not associated with increased fetal injury, miscarriage and infertility similar to that reported without such treatment.

  • Colchicine should usually be administered through pregnancy

Literature

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)


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