Colchicine is the only established treatment for patients diagnosed with FMF (first demonstrated in 1972) and can prevent the potentially fatal complication renal amyloidosis.[68]Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med. 1972 Dec 21;287(25):1302.
http://www.ncbi.nlm.nih.gov/pubmed/4636899?tool=bestpractice.com
[69]Demirkaya E, Erer B, Ozen S, et al. Efficacy and safety of treatments in familial Mediterranean fever: a systematic review. Rheumatol Int. 2016 Mar;36(3):325-31.
http://www.ncbi.nlm.nih.gov/pubmed/26687683?tool=bestpractice.com
It is almost 95% effective (after excluding those who might be intolerant or non-adherent).[90]Lidar M, Scherrmann JM, Shinar Y, et al. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum. 2004 Feb;33(4):273-82.
http://www.ncbi.nlm.nih.gov/pubmed/14978665?tool=bestpractice.com
Colchicine is used to treat acute attacks, suppress attacks, prevent amyloidosis, and stabilise proteinuria in patients with amyloid nephropathy.[68]Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med. 1972 Dec 21;287(25):1302.
http://www.ncbi.nlm.nih.gov/pubmed/4636899?tool=bestpractice.com
[91]Livneh A, Zemer D, Langevitz P, et al. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Arthritis Rheum. 1994 Dec;37(12):1804-11.
http://www.ncbi.nlm.nih.gov/pubmed/7986228?tool=bestpractice.com
Some patients also use colchicine to treat acute attacks.
Colchicine is not usually used for asymptomatic patients even if FMF mutations have been identified. Family members of an index case with elevated acute-phase reactants and carrying the same mutation(s) as the symptomatic family member should receive colchicine treatment, as they may develop full FMF symptoms later in life and may be at risk for secondary amyloidosis.
Protracted myalgia
Patients with continuing myalgia may require adjunctive therapy with prednisolone and/or an NSAID for as long as 6 weeks, but may also respond to colchicine alone.[53]Sidi G, Shinar Y, Livneh A, et al. Protracted febrile myalgia of familial Mediterranean fever: mutation analysis and clinical correlations. Scand J Rheumatol. 2000;29(3):174-6.
http://www.ncbi.nlm.nih.gov/pubmed/10898070?tool=bestpractice.com
[72]Livneh A, Langevitz P, Zemer D, et al. The changing face of familial Mediterranean fever. Semin Arthitis Rheum. 1996 Dec;26(3):612-27.
http://www.ncbi.nlm.nih.gov/pubmed/8989806?tool=bestpractice.com
[93]Majeed HA, Al-Qudah AK, Qubain H, et al. The clinical patterns of myalgia in children with familial Mediterranean fever. Semin Arthritis Rheum. 2000 Oct;30(2):138-43.
http://www.ncbi.nlm.nih.gov/pubmed/11071586?tool=bestpractice.com
Lifelong prophylaxis
Patients require lifelong treatment with daily colchicine. Initially, adherence might be poor due to adverse effects including diarrhoea, nausea, abdominal cramps, and bloating. However, long-term colchicine therapy is highly effective and safe with mild and infrequent adverse effects. Intravenous colchicine use is discouraged due to the potential to cause severe bone marrow suppression and death. Adjunctive biological agents have been used and found effective for patients who respond poorly or have poor tolerance to colchicine.[94]Meinzer U, Quartier P, Alexandra JF, et al. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum. 2011 Oct;41(2):265-71.
http://www.ncbi.nlm.nih.gov/pubmed/21277619?tool=bestpractice.com
[95]Hashkes PJ, Spalding SJ, Giannini EH, et al. Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. Ann Intern Med. 2012 Oct 16;157(8):533-41.
http://www.ncbi.nlm.nih.gov/pubmed/23070486?tool=bestpractice.com
[96]Ozen S, Bilginer Y, Aktay Ayaz N, et al. Anti-interleukin 1 treatment for patients with familial Mediterranean fever resistant to colchicine. J Rheumatol. 2011 Mar;38(3):516-8.
http://www.ncbi.nlm.nih.gov/pubmed/21159830?tool=bestpractice.com
Currently, evidence supporting the use of biological agents is limited. Functional studies suggest that interleukin (IL)-1 is implicated in the inflammatory reaction in FMF; therefore, IL-1 inhibitors are thought to be a good approach in resistant FMF. Studies have confirmed the good response of colchicine-resistant FMF patients to IL-1 inhibitors.[97]Kuemmerle-Deschner JB, Gautam R, George AT, et al. A systematic literature review of efficacy, effectiveness and safety of biologic therapies for treatment of familial Mediterranean fever. Rheumatology (Oxford). 2020 Oct 1;59(10):2711-24.
https://academic.oup.com/rheumatology/article/59/10/2711/5856849?login=false
http://www.ncbi.nlm.nih.gov/pubmed/32533192?tool=bestpractice.com
[98]Poddighe D, Romano M, Garcia-Bournissen F, et al. Conventional and novel therapeutic options in children with familial Mediterranean fever: a rare autoinflammatory disease. Br J Clin Pharmacol. 2022 Jun;88(6):2484-99.
http://www.ncbi.nlm.nih.gov/pubmed/34799863?tool=bestpractice.com
[99]Kacar M, Savic S, van der Hilst JCH. The efficacy, safety and tolerability of canakinumab in the treatment of familial mediterranean fever: a systematic review of the literature. J Inflamm Res. 2020 Mar 9;13:141-49.
http://www.ncbi.nlm.nih.gov/pubmed/32210604?tool=bestpractice.com
One Cochrane review concluded that anakinra and canakinumab are probably effective, but more research is needed for rilonacept.[100]Yin X, Tian F, Wu B, et al. Interventions for reducing inflammation in familial Mediterranean fever. Cochrane Database Syst Rev. 2022 Mar 29;(3):CD010893.
https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD010893.pub4/full
http://www.ncbi.nlm.nih.gov/pubmed/35349164?tool=bestpractice.com
IL-1 inhibitors are now tried first for colchicine-resistant and/or intolerant patients.[101]Ter Haar N, Lachmann H, Özen S, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013 May;72(5):678-85.
http://www.ncbi.nlm.nih.gov/pubmed/22753383?tool=bestpractice.com
Even if an increasing number of IL-1 targeting drugs are currently available, treatment should start with a short half-life drug (i.e., anakinra) in order to test effectiveness. Medium or long half-life drugs (i.e., rilonacept, canakinumab) should be considered only if the short half-life drug is effective.[99]Kacar M, Savic S, van der Hilst JCH. The efficacy, safety and tolerability of canakinumab in the treatment of familial mediterranean fever: a systematic review of the literature. J Inflamm Res. 2020 Mar 9;13:141-49.
http://www.ncbi.nlm.nih.gov/pubmed/32210604?tool=bestpractice.com
[102]Hentgen V, Grateau G, Kone-Paut I, et al. Evidence-based recommendations for the practical management of familial Mediterranean fever. Semin Arthritis Rheum. 2013 Dec;43(3):387-91.
http://www.ncbi.nlm.nih.gov/pubmed/23742958?tool=bestpractice.com
Canakinumab and anakinra are approved for FMF in some countries.
Tumour necrosis factor (TNF)-alpha antagonists have also been tested in colchicine-intolerant patients with articular involvement, and they have been shown to be a good therapeutic option for most of them. TNF antagonists could be considered in resistant FMF patients with important articular involvement.[102]Hentgen V, Grateau G, Kone-Paut I, et al. Evidence-based recommendations for the practical management of familial Mediterranean fever. Semin Arthritis Rheum. 2013 Dec;43(3):387-91.
http://www.ncbi.nlm.nih.gov/pubmed/23742958?tool=bestpractice.com
[103]Bilgen SA, Kilic L, Akdogan A, et al. Effects of anti-tumor necrosis factor agents for familial Mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment. J Clin Rheumatol. 2011 Oct;17(7):358-62.
http://www.ncbi.nlm.nih.gov/pubmed/21946459?tool=bestpractice.com