Biomaterial Database

Familial Mediterranean Fever. 2019

Huri Ozdogan, and Serdal Ugurlu

University of Istanbul-Cerrahpasa, Cerrahpasa Medical Faculty, Division of Rheumatology, Department of Internal Medicine, 34098 Istanbul, Turkey. Electronic address: huriozdogan@yahoo.com.

Familial Mediterranean Fever (FMF) is the oldest and the most frequent of all described hereditary periodic fever syndromes. The populations originating from Mediterranean basin carry the highest risk for FMF however it is being increasingly recognized in many parts of the world. It is an autoinflammatory disease with an autosomal recessive transmission. In the majority of the patients it is related with mutations in the MEFV gene that encodes a protein named pyrin. This protein has been shown to act as a regulator of inflammation mediated by IL-1β, which plays a major role in the pathogenesis of FMF. Approximately one-third of the patients have either a single or no mutation which raise questions about its mode of inheritance. FMF is a clinical diagnosis and characterized by self-limited bouts of fever and serositis. The main long-term complication of the disease is AA amyloidosis. The mainstay of treatment is life-long colchicine given daily to prevent the recurrence of febrile attacks and the development of amyloidosis. Patients with insufficient response to colchicine may be treated with anti IL-1 agents.

UI	MeSH Term	Description	Entries
D007113	Immunity, Innate	The capacity of a normal organism to remain unaffected by microorganisms and their toxins. It results from the presence of naturally occurring ANTI-INFECTIVE AGENTS, constitutional factors such as BODY TEMPERATURE and immediate acting immune cells such as NATURAL KILLER CELLS.	Immunity, Native,Immunity, Natural,Immunity, Non-Specific,Resistance, Natural,Innate Immune Response,Innate Immunity,Immune Response, Innate,Immune Responses, Innate,Immunity, Non Specific,Innate Immune Responses,Native Immunity,Natural Immunity,Natural Resistance,Non-Specific Immunity
D007249	Inflammation	A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.	Innate Inflammatory Response,Inflammations,Inflammatory Response, Innate,Innate Inflammatory Responses
D007375	Interleukin-1	A soluble factor produced by MONOCYTES; MACROPHAGES, and other cells which activates T-lymphocytes and potentiates their response to mitogens or antigens. Interleukin-1 is a general term refers to either of the two distinct proteins, INTERLEUKIN-1ALPHA and INTERLEUKIN-1BETA. The biological effects of IL-1 include the ability to replace macrophage requirements for T-cell activation.	IL-1,Lymphocyte-Activating Factor,Epidermal Cell Derived Thymocyte-Activating Factor,Interleukin I,Macrophage Cell Factor,T Helper Factor,Epidermal Cell Derived Thymocyte Activating Factor,Interleukin 1,Lymphocyte Activating Factor
D008297	Male		Males
D010505	Familial Mediterranean Fever	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.	Mediterranean Fever, Familial,Periodic Disease,Periodic Disease, Wolff's,Wolff Periodic Disease,Wolff's 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
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011248	Pregnancy Complications	Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.	Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003078	Colchicine	A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE).	Colchicine, (+-)-Isomer,Colchicine, (R)-Isomer