Acronym PFMC Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]

Pyrin is a protein normally present in the inflammasome. The mutated pyrin protein is thought to cause inappropriate activation of the inflammasome, leading to release of the pro-inflammatory cytokine IL-1β. [en.wikipedia.org]

Patients presenting with TRAPS commonly have northern European ancestry. [emedicine.medscape.com]

The hereditary periodic fever syndromes are autoinflammatory diseases that mostly present in childhood and are characterized by recurrent, self-limiting, seemingly unprovoked episodes of fever and systemic inflammation that occur in the absence of autoantibody [oxfordmedicine.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The mainstay of management is long term treatment with low doses of a tablet called colchicine. Continuous treatment with colchicine prevents or substantially reduces symptoms of FMF in at least 95%. [ucl.ac.uk]

Best management of PFAPA: steroids vs tonsillectomy vs IL-1 blockade vs no treatment. Use of colchicine for treatment or prophylaxis in FMF patients with one identified non-M694mutation or mild presentation. [clinicaladvisor.com]

What are the treatments for TRAPS? There is still no proven definitive treatment to prevent or cure the disease. [my.clevelandclinic.org]

Ilaris is already approved as a treatment for another Periodic Fever Syndrome condition – Cryopyrin-Associated Periodic Syndromes, as well as Systemic Juvenile Idiopathic Arthritis. For more information visit Novartis.com. [empr.com]

Prognosis Pain during ovulation does not have any dangerous consequences. External resources American College of Obstetricians and Gynecologists P.O. [drugs.com]

Unlike other PFSs, NOMID follows a chronic course with significant complications, poor overall prognosis and shortened lifespan if untreated (by IL-1 blockade therapy.) [clinicaladvisor.com]

To date few periodic syndromes remain of unknown origin like PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis and adenitis), characterized by periodic fever attacks with early onset, of non-infective origin, with benign prognosis in the [ijponline.biomedcentral.com]

A review conducted by Ben-Chetrit and Touitou 4 attempted to explain the origin of FMF in countries far from the Middle East and to ascertain whether the disorder in these non-Mediterranean countries differed in manifestation and prognosis. [nature.com]

The prognosis depends on the development of amyloidosis. More aggressive therapy may be indicated in patients with a positive family history of amyloidosis. [emedicine.medscape.com]

Although familial cases of PFAPA have been reported, the syndrome’s etiology isn’t fully understood. She began with a review of fever definition and pathogenesis, and used a series of case studies to introduce various fever syndromes. [mdedge.com]

Etiology of elevated serum IgD and also IgA (in 70%) recurrent fevers from decreased MVK activity not fully understood, but includes increased inflammasome activation and IL-1beta overproduction. [clinicaladvisor.com]

Periodic fevers are characterized by seemingly unprovoked, recurrent attacks of fever and severe inflammation in the absence of infectious or autoimmune etiology. [link.springer.com]

Relevant External Links for HTR1A Genetic Association Database (GAD) HTR1A Human Genome Epidemiology (HuGE) Navigator HTR1A Atlas of Genetics and Cytogenetics in Oncology and Haematology: HTR1A No data available for Genatlas for HTR1A Gene A genetic variant [genecards.org]

Epidemiology: FMF: Most common inherited PFS. Predominantly affects people living in the Mediterranean region. Incidence: 1-3/10 5 in Turkey, Armenia, North Africa, Arab countries, and Italy; rare elsewhere. [clinicaladvisor.com]

Epidemiological data about inflammatory diseases are poor; generally they are quite rare diseases. No gender prevalence has been described; only some reports recorded mild predominance in males for FMF [ 6 ]. [ijponline.biomedcentral.com]

HISTORICAL EPIDEMIOLOGY Although FMF has been reported in a variety of ethnic groups, the condition primarily affects populations of the Mediterranean basin: Arabs, Armenians, Turks, Greeks, Italians, Persians, and North African Jews (Morocco, Algeria [nature.com]

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease*. Annu Rev Immunol 2009;27(1):621–68 Stojanov S, Kastner DL (2005). "Familial autoinflammatory diseases: genetics, pathogenesis and treatment". [en.wikipedia.org]

Furthermore, disease entities based on criteria, like the PFAPA syndrome, might conceal different diseases from a pathophysiological perspective. [link.springer.com]

Patients treated with anakinra, an IL-1 receptor antagonist, exhibited rapid clinical and immunological response and improved skeletal lesions. [81] Otulipenia A growing body of research indicates that the ubiquitin pathway is important in the pathophysiology [emedicine.medscape.com]

Prevention It usually is not necessary to prevent this mild, short-lived pain syndrome. Birth control pills prevent ovulation and can be used to prevent mid-cycle pain. [drugs.com]

We hope that early treatment may prevent development of complications of CAPS such as deafness and eye damage. [ucl.ac.uk]

In this way, episodes can usually be prevented (in 60 percent of patients completely prevented, in 33 percent partially prevented, and in about 5 percent colchicine is not effective) and amyloidosis can be prevented in 100 percent of patients. [my.clevelandclinic.org]

Colchicine prevents renal amyloidosis in FMF, but not in HIDS, TRAPS or CAPS. [clinicaladvisor.com]

MANAGEMENT AND TREATMENT Treatment of FMF is centered on prevention of painful attacks and the development of amyloidosis. [nature.com]