Familial Mediterranean Fever (Periodic Disease)

A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.

Also Known As:

Periodic Disease; Mediterranean Fever, Familial; Wolff Periodic Disease; Benign Paroxysmal Peritonitis; Familial Mediterranean Fever, Autosomal Dominant; Familial Mediterranean Fever, Autosomal Recessive; Familial Paroxysmal Polyserositis; Periodic Peritonitis; Polyserositis, Familial Paroxysmal; Polyserositis, Recurrent; Recurrent Polyserositis; Benign Paroxysmal Peritonitides; Disease, Periodic; Disease, Wolff Periodic; Disease, Wolff's Periodic; Diseases, Periodic; Familial Paroxysmal Polyserositides; Paroxysmal Peritonitides, Benign; Paroxysmal Peritonitis, Benign; Paroxysmal Polyserositides, Familial; Paroxysmal Polyserositis, Familial; Periodic Disease, Wolff; Periodic Disease, Wolffs; Periodic Diseases; Periodic Peritonitides; Peritonitides, Benign Paroxysmal; Peritonitides, Periodic; Peritonitis, Benign Paroxysmal; Peritonitis, Periodic; Polyserositides, Familial Paroxysmal; Polyserositides, Recurrent; Recurrent Polyserositides; Wolffs Periodic Disease; Periodic Disease, Wolff's; Wolff's Periodic Disease

Networked: 1635 relevant articles (101 outcomes, 164 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Autoinflammatory Diseases: 43
    - Familial Mediterranean Fever: 1635

Related Diseases

1.	Amyloidosis
2.	Gout
3.	Pericarditis
4.	Fever (Fevers)
5.	Familial Mediterranean Fever (Periodic Disease)

Experts

1.	Ozen, Seza: 45 articles (02/2024 - 05/2003)
2.	Livneh, Avi: 42 articles (04/2022 - 04/2003)
3.	Migita, Kiyoshi: 23 articles (10/2023 - 05/2013)
4.	Kastner, Daniel L: 22 articles (12/2022 - 01/2003)
5.	Georgin-Lavialle, Sophie: 21 articles (05/2024 - 01/2017)
6.	Lidar, Merav: 21 articles (04/2022 - 12/2003)
7.	Kawakami, Atsushi: 20 articles (12/2022 - 05/2013)
8.	Tufan, Abdurrahman: 19 articles (01/2024 - 10/2006)
9.	Kasapcopur, Ozgur: 19 articles (11/2023 - 01/2013)
10.	Grateau, Gilles: 18 articles (01/2024 - 07/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Mediterranean Fever:

1.	Colchicine FDA LinkGeneric 12/01/2019 - "Colchicine has been found to be highly effective for the treatment of familial Mediterranean fever (FMF). " 05/18/2018 - "Long-term familial Mediterranean fever remission on successful hepatitis C virus treatment in a patient not responding to colchicine: a case report." 01/01/2020 - "Colchicine is the mainstay of treatment for familial Mediterranean fever. " 01/01/2019 - "Colchicine is the mainstay of treatment for familial Mediterranean fever (FMF). " 05/01/2014 - "Colchicine is the main treatment for familial Mediterranean fever (FMF). "
2.	canakinumab FDA Link 06/01/2012 - "Canakinumab induces remission in a patient with resistant familial Mediterranean fever." 01/01/2024 - "This study aimed to evaluate the effect of canakinumab on growth parameters in children with familial Mediterranean fever (FMF). " 01/01/2024 - "The effect of canakinumab treatment on growth parameters in children with familial Mediterranean fever." 11/23/2023 - "Is it possible to extend the dose interval of canakinumab treatment in children with familial Mediterranean fever? " 01/01/2020 - "Improvement of Liver Involvement in Familial Mediterranean Fever After the Introduction of Canakinumab: A Case Report."
3.	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 06/06/2023 - "The aim of this retrospective study is to evaluate the efficacy of a single-dose anakinra during familial Mediterranean fever (FMF) attacks and its effect on the duration, severity, and frequency of attacks. " 06/06/2023 - "The efficacy of a single-dose anakinra injection during disease attack in pediatric familial Mediterranean fever." 12/01/2015 - "Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever." 05/01/2024 - "The clinical role of anakinra in the armamentarium against familial Mediterranean fever." 01/01/2023 - "Budget impact analysis of anakinra in the treatment of familial Mediterranean fever in Italy."
4.	Interleukin-1 (Interleukin 1)IBA 02/01/2015 - "Efficacy of interleukin-1 targeting treatments in patients with familial mediterranean Fever." 01/01/2022 - "This study aims to review the char- acteristics of patients treated with interleukin-1 inhibitors and their long-term follow-up in a large pediatric cohort of familial Mediterranean fever patients. " 04/17/2024 - "Familial Mediterranean Fever was the most common IL-1 AID. " 10/01/2023 - "Effects of interleukin-1 antagonists on de novo and pre-existing damage in patients with familial Mediterranean fever." 01/01/2023 - "Efficacy and safety of interleukin-1 blockers in kidney transplant recipients with familial Mediterranean fever: a propensity score-matched cohort study."
5.	AA amyloidosisIBA 12/01/2020 - "Safety and efficacy of anti-interleukin-1 treatment in 40 patients, followed in a single centre, with AA amyloidosis secondary to familial Mediterranean fever." 08/10/2021 - "The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. " 05/24/2019 - "Assessment of Mean Platelet Volume in Patients with AA Amyloidosis and AA Amyloidosis Secondary to Familial Mediterranean Fever: A Retrospective Chart - Review Study." 11/01/2017 - "Our study indicated that familial Mediterranean fever constituted a large proportion of cases and increased number of patients with idiopathic amyloid A amyloidosis. " 07/01/2015 - "The aim of the study was to evaluate the clinical and genetic predictors of AA amyloidosis in patients with familial Mediterranean fever (FMF). "
6.	Interferon-alpha (Interferon Alfa)IBA 07/01/2004 - "The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: A double-blind, placebo-controlled trial." 11/01/1996 - "Resolving familial Mediterranean fever attacks with interferon alpha." 07/01/2004 - "The efficacy of interferon-alpha in a patient with resistant familial Mediterranean fever complicated by polyarteritis nodosa." 11/01/2004 - "Interferon alfa in protracted arthritis of familial Mediterranean fever: a robust alternative for synovectomy." 07/01/2004 - "The efficacy of continuous interferon alpha administration as an adjunctive agent to colchicine-resistant familial Mediterranean fever patients."
7.	rilonacept FDA Link 01/01/2014 - "To examine the effect of rilonacept on the health-related quality of life (HRQoL) in patients with poorly controlled familial Mediterranean fever (FMF). " 01/01/2014 - "The effect of rilonacept versus placebo on health-related quality of life in patients with poorly controlled familial Mediterranean fever." 07/01/2014 - "The familial Mediterranean fever (FMF) rilonacept trial (Hashkes et al., Ann Intern Med 2012;157:533-41) demonstrates a novel crossover design by enabling patient choice to early escape for rare disease. " 06/01/2009 - "It is yet to be determined whether rilonacept would be an effective treatment for other chronic inflammatory conditions such as gout, familial Mediterranean fever and systemic juvenile idiopathic arthritis." 01/01/2010 - "Other autoinflammatory disorders may also benefit from rilonacept treatment, with clinical trials in progress for systemic onset juvenile idiopathic arthritis, gout and familial mediterranean fever."
8.	tocilizumab (atlizumab)FDA Link 09/13/2022 - "Tocilizumab for the Treatment of Familial Mediterranean Fever-A Randomized, Double-Blind, Placebo-Controlled Phase II Study." 09/01/2022 - "A randomised, double-blind, placebo-controlled phase III trial on the efficacy and safety of tocilizumab in patients with familial Mediterranean fever." 01/01/2021 - "The assessment of tocilizumab therapy on recurrent attacks of patients with familial Mediterranean fever: A retrospective study of 15 patients." 11/01/2017 - "Tocilizumab is effective in a familial Mediterranean fever patient complicated with histologically proven recurrent fasciitis and myositis." 06/15/2019 - "Atypical Familial Mediterranean Fever Complicated with Gastrointestinal Amyloidosis Diagnosed due to Paroxysmal Arthralgia and Intractable Diarrhea, Successfully Treated with Tocilizumab."
9.	Infliximab (Remicade)FDA Link 02/01/2006 - "Familial Mediterranean fever responds well to infliximab: single case experience." 10/01/2006 - "Clinical improvement with infliximab in a child with amyloidosis secondary to familial Mediterranean fever." 06/01/2004 - "Our case is the first case of reactive systemic amyloidosis secondary to familial Mediterranean fever, which responded favorably to infliximab." 08/01/2012 - "Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up." 02/15/2005 - "Infliximab therapy in a patient with familial Mediterranean fever and chronic hip arthritis."
10.	Amyloid (Amyloid Fibrils)IBA 11/01/1962 - "A study of the fine structure of the amyloid associated with familial Mediterranean fever." 05/01/2023 - "The most significant complication in familial mediterranean fever (FMF) patients is dysfunction and organ failure developing depending on amyloid deposition in organs. " 09/01/2021 - "Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia." 01/01/2021 - "Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V." 01/01/2020 - "Non-amyloid liver involvement in familial Mediterranean fever: A systematic literature review."

Therapies and Procedures

1.	Therapeutics 05/01/2021 - "The study aimed to determine the caregiver burden and coping strategies in caregivers of familial Mediterranean fever (FMF) patients in relation to illness severity, therapy and health-related quality of life (HRQoL). " 01/01/2021 - "This study explored the correlations between the use of complementary and integrative therapies (CITs) and symptoms among Turkish patients with familial Mediterranean fever (FMF). " 03/15/2024 - "Identifying trigger factors can lead to better preventive measures and personalized therapies to decrease familial Mediterranean fever attacks. " 05/01/2021 - "Evaluation of caregiver burden and coping strategies in parents of paediatric familial Mediterranean fever patients in relation to illness severity, therapy and health-related quality of life." 01/01/2021 - "Association of complementary and integrative therapy use and symptoms among Turkish patients with familial Mediterranean fever."
2.	Biological Therapy 01/01/2016 - "Biologic therapy in familial Mediterranean fever: Comment on the study by Koga et al." 01/01/2023 - "Dual Biologic Therapy in Patients with Familial Mediterranean Fever and Spondyloarthritis: Case-Based Review." 10/01/2020 - "A systematic literature review of efficacy, effectiveness and safety of biologic therapies for treatment of familial Mediterranean fever." 09/01/2016 - "Biologic therapy in familial Mediterranean fever." 01/01/2023 - "To address this, our report presented a case series of 4 patients with familial Mediterranean fever and spondylitis who were resistant to standard treatments and in whom remission is achieved only with dual biologic therapy. "
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 08/01/2002 - "Allogeneic bone marrow transplantation: cure for familial Mediterranean fever." 08/01/2007 - "Transmission of familial Mediterranean fever mutations following bone marrow transplantation." 07/01/2003 - "Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever." 07/15/2010 - "Transmission of familial Mediterranean fever mutation after bone marrow transplantation and successful treatment with anakinra."
4.	Tonsillectomy 01/01/2023 - "Long-term efficacy of tonsillectomy/adenotonsillectomy in patients with periodic fever aphthous stomatitis pharyngitis adenitis syndrome with special emphasis on co-existence of familial Mediterranean fever."
5.	Thyroidectomy 12/01/1989 - "Subtotal thyroidectomy and oral colchicine administration, known to be effective in preventing complications of familial Mediterranean fever, another hereditary type of AA amyloidosis, proved highly effective in the management of this unusual case."