| 词条 | Factor XII deficiency |
| 释义 |
| name = {{PAGENAME}} | synonyms = | image = | alt = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Factor XII deficiency (also Hageman factor deficiency) is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor XI. FXII appears to be not essential for blood clotting, as individuals with this condition are usually asymptomatic and form blood clots in vivo. FXII deficiency tends to be identified during presurgical laboratory screening for bleeding disorders.[1] The condition can be inherited or acquired. SymptomsWhile it is indicated that people with FXII deficiency are generally asymptomatic,[2] studies in women with recurrent miscarriages suggest an association with FXII deficiency.[2]The condition is of importance in the differential diagnosis to other bleeding disorders, specifically the hemophilias: hemophilia A with a deficiency in factor VIII or antihemophilic globulin, hemophilia B with a deficiency in factor IX (Christmas disease), and hemophilia C with a deficiency in factor XI. Other rare forms of bleeding disorders are also in the differential diagnosis.{{citation needed|date=May 2018}} There is concern that individuals with FXII deficiency are more prone to thrombophilic disease,[1] however, this is at variance with a long term study from Switzerland.[3] CausesInherited or congenital FX deficiency is usually passed on by autosomal recessive inheritance.[4] A person needs to inherit a defective gene from both parents. People who have only one defective gene are asymptomatic, but may have lower FXII levels and can pass the gene on to half their offspring. In persons with congenital FXII deficiency the condition is lifelong. People affected may want to alert other family members as they may also may carry the gene. A 1994 study of 300 healthy blood donors found that 7 persons (2.3%) had FXII deficiencies with one subject having no detectable FXII (0.3%).[5] This study is at variance with estimates that only 1 in 1,000,000 people has the condition.[4] The acquired form of FXII deficiency is seen in patients with the nephrotic syndrome, liver disease, sepsis and shock, disseminated intravascular coagulation, and other diseases.[1] DiagnosisThe condition is diagnosed by blood tests in the laboratory when it is noted that special blood clotting test are abnormal. Specifically prothrombin time (PT) or activated partial thromboplastin time(aPTT) are prolonged.[4] The diagnosis is confirmed by an assay detecting very low or absent FXII levels. The FXII (F12) gene is found on chromosome 5q33-qter.[4] In hereditary angioedema type III an increased activity of factor XII has been described.[6] TreatmentIn congenital FXII deficiency treatment is not necessary. In acquired FXII deficiency the underlying problem needs to be addressed.{{citation needed|date=May 2018}} HistoryThe condition was first described in 1955 based by blood testing of a patient named John Hageman.[7] References1. ^1 2 {{cite web| url=http://www.pathology.vcu.edu/media/pathology/clinical/coag/FXIIDeficiency.pdf |author=Riley RS |title=Factor XII Deficiency| publisher=Pathology, Virginia Commonwealth University |date=April 2005 |accessdate=February 20, 2017}} 2. ^{{cite journal| url=http://www.sciencedirect.com/science/article/pii/S001502820300788X| vauthors=Pauer HU, Burfeind P, Köstering H, Emons G, Hinney B | title=Factor XII deficiency is strongly associated with primary recurrent abortions |journal=Fertility and Sterility| volume = 80| issue = 3 |doi=10.1016/S0015-0282(03)00788-X |accessdate=February 20, 2017 | pages=590–594| year=2003 }} 3. ^{{cite journal| url=https://th.schattauer.de/en/contents/archive/issue/special/manuscript/5062.html |vauthors=Zeerleder S, Schloesser M, Redondo M, Wuillemin WA, Engel W, Furlan M, Laemmle B |title=Reevaluation of the Incidence of Thromboembolic Complications in Congenital Factor XII Deficiency A Study on 73 Subjects from 14 Swiss Families| journal=Thrombosis and Haemostasis |year=1999 |volume=82 |issue=4 |pages=1240–1246 |doi= |pmid= |accessdate=February 20, 2017}} 4. ^1 2 3 4 {{cite web| url=https://rarediseases.org/rare-diseases/factor-xii-deficiency/ |title=Factor XII Deficiency |publisher=National Organization for Rare Disorders(NORD) |date= |accessdate=February 20, 2017}} 5. ^{{cite journal| vauthors=Halbmayer WM, Haushofer A, Schoen R, Mannhalter C, Strohmer E, Baumgarten K, Fischer M |title=The prevalence of moderate and severe FXII (Hageman factor) deficiency among the normal population: evaluation of the incidence of FXII deficiency among 300 healthy blood donors| journal=Thromb Haemost |year=1994 |volume=71 |issue=1 |pages=68–72| pmid=8165648}} 6. ^{{cite journal| pmc=1698720 |vauthors=Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renné T, Drouet C, Bork K, Nöthen MM| title=Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III |journal=Am J Hum Genet |year=2006 |volume=79 |issue=6 |pages=1098–1104 |doi=10.1086/509899| pmid=1698720}} 7. ^{{cite journal | vauthors = Ratnoff OD, Margolius A | title = Hageman trait: an asymptomatic disorder of blood coagulation | journal = Transactions of the Association of American Physicians | volume = 68 | issue = | pages = 149–54 | year = 1955 | pmid = 13299324 | doi = }} External links{{Medical resources| ICD10 = D68.2 | ICD9 = | ICDO = | OMIM = 234000 | DiseasesDB = | MedlinePlus = 000545 | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 330 }}{{Diseases of megakaryocytes}} 2 : Bleeding|Coagulopathies |
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