Familial Mediterranean Fever
Top Contributors - Khloud Shreif, Kim Jackson and Kirenga Bamurange Liliane
Introduction[edit | edit source]
Familial Mediterranean Fever (FMF) is a common genetic, hereditary, autoinflammatory disease that mainly affects people from the Eastern Mediterranean, like Turks, Jews, Arabs, and Armenians[1]. It occurs in about 1 out of every 500 to 1,000 people in these areas[2]. But FMF is no longer limited to these boundaries, It's spreading to other parts of the world, like Europe, North America, and Japan. This is happening because lots of people from FMF-prone areas have moved to these new places in the last 20 years[3].
Mechanism of Injury / Pathological Process[edit | edit source]
Familial Mediterranean Fever (FMF) happens because of mutation in the MEFV gene found on chromosome 16. This gene makes a protein called pyrin, that is in different types of immune cells like neutrophils, eosinophils, monocytes, and dendritic cells and is important for the immune system.
When there's a problem with pyrin because of changes with this gene, it can cause inflammation in the body. Pyrin usually works with another protein called ASC, and together, they create something called an inflammasome. This inflammasome starts a process that leads to the release of certain proteins called IL-1beta and IL-18. These proteins cause more inflammation in the body, and the immune system goes into overdrive. Sometimes, this inflammation process can also lead to a type of cell death called pyroptosis, where cells swell up and burst. This makes the inflammation even worse. It's like a chain reaction, with the body's immune system getting more and more active.
Clinical Presentation[edit | edit source]
- Sudden, short, and irregular episodes of fever and pain that resolve spontaneously within 24–72 h.
- Abdominal pain
- Arthritis.
- Symptoms of inflammation of the serous membranes that may sometimes need hospitalization or unnecessary surgery.
Diagnostic Procedures[edit | edit source]
The diagnosis of FMF is dependent on Tel-Hashomer clinical criteria, in which patient with 2 major clinical symptoms or two minor symptoms can be diagnosed with FMF according to the new simplified version from Livneh as the following[4].
| Major criteria | Minor criteria |
| Typical attacks (1-4) | Incomplete attacks involving either or both of the following sites |
| 1- Generalized peritonitis | 1- Chest |
| 2- Unilateral pleuritis or pericarditis | 2- Joint |
| 3- Monoarthritis (hip, knee, ankle) | 3- Exertional leg pain |
| 4- Fever alone | 4- favorable response to colchicine |
| 5- Incomplete abdominal attack |
Outcome Measures[edit | edit source]
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Management / Interventions
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Differential Diagnosis
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Resources
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References[edit | edit source]
- ↑ Alghamdi M. Familial Mediterranean fever, review of the literature. Clinical rheumatology. 2017 Aug;36(8):1707-13.
- ↑ Ben‐Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Care & Research. 2009 Oct 15;61(10):1447-53.
- ↑ Onen F, Sumer H, Turkay S, Akyurek O, Tunca M, Ozdogan H. Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey. Clinical and experimental rheumatology. 2004 Jul 1;22(4).
- ↑ Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M. Criteria for the diagnosis of familial Mediterranean fever. Arthritis & Rheumatism. 1997 Oct;40(10):1879-85.
