Factor XII deficiency
Factor XII deficiency | |
---|---|
Other names | Hageman factor deficiency |
Specialty | Hematology, medical genetics |
Factor XII deficiency is a deficiency in the production of
The condition can be inherited or acquired.[citation needed]
Symptoms and signs
While it is indicated that people with FXII deficiency are generally asymptomatic,
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.[4]
Causes
Inherited or congenital FXII deficiency is usually passed on by
In persons with congenital FXII deficiency the condition is lifelong. People affected may want to alert other family members as they may also 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.[2]
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]
Diagnosis
The condition is diagnosed by blood tests in the laboratory when it is noted that special blood clotting test are abnormal. Specifically Activated Partial Thromboplastin Time (aptt) is prolonged.[2] The diagnosis is confirmed by an assay detecting very low or absent FXII levels.[citation needed]
The FXII (F12) gene is found on chromosome 5q33-qter.[2] In hereditary angioedema type III an increased activity of factor XII has been described.[6]
Treatment
In congenital FXII deficiency treatment is not necessary. In acquired FXII deficiency the underlying problem needs to be addressed.[citation needed]
History
The condition was first described in 1955 based by blood testing of a patient named John Hageman.[7]
References
- ^ a b c Riley RS (April 2005). "Factor XII Deficiency" (PDF). Pathology, Virginia Commonwealth University. Archived from the original (PDF) on February 21, 2017. Retrieved February 20, 2017.
- ^ a b c d e "Factor XII Deficiency". National Organization for Rare Disorders(NORD). Retrieved February 20, 2017.
- PMID 12969703.
- S2CID 37296883. Archived from the originalon February 21, 2017. Retrieved February 20, 2017.
- S2CID 39576004.
- PMID 17186468.
- PMID 13299324.