Functional Anomaly of Factor XII

Aznar, Justo; Villa, Piedad; Vayá, Amparo; Mira, Yolanda; Lorenzo, Ignacio; España, Francisco

doi:10.1159/000216346

Cited by 2 publications

(2 citation statements)

References 4 publications

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“…All the patients reported in the liter-ature were apparently cases of "true," namely severe, CRM-negative FXII deficiency. A functional defect was found only in one case (25). The four cases reported here and the additional 17 of the literature showed no bleeding and/or thrombotic complication.…”

Section: Resultssupporting

confidence: 43%

Thrombosis-free Surgical Procedures in Severe(Homozygote) Factor XII Deficiency: Report of Four Additional Cases and Literature Review

Girolami

Ruzzon

Lombardi

et al. 2004

Clin Appl Thromb Hemost

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The outcome of various surgical procedures carried out in patients with severe (homozygote) factor XII deficiency were investigated for the appearance of blood coagulation-related complications with particular emphasis on thrombotic complications. The surgical procedures were total mastectomy, tonsillectomy and adenoidectomy, placement of a hip prosthesis, and double hernia repair. None of the patients slowed any complication. Several other reported cases of surgical procedures carried out in several patients ware found in the literature. Bleeding or thrombotic complications were noted in none of these cases. The surgical procedures in some cases were minor such as adenoidectomy, tonsillectomy, or nasal polyp removal. However several major surgical procedures were carried out in some patients (cholecystectomy, gastrectomy, repair of atrial septal defect, coronary bypass). All patients remained asymptomatic. In some cases whole blood and/or plasma were used as requested by the caring surgeons. In a few patients, the plasma was given prophylactically because of the long partial thromboplastin time. Finally, three patients (two for cardiac surgery and one after hip replacement) received heparin prophylaxis as foreseen by accepted procedures without the undue sequels. These data supply further evidence that factor XII deficiency does not only show any bleeding tendency but also can withstand even major surgical procedures without thrombotic complications.

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Section: Resultssupporting

confidence: 43%

Thrombosis-free Surgical Procedures in Severe(Homozygote) Factor XII Deficiency: Report of Four Additional Cases and Literature Review

Girolami

Ruzzon

Lombardi

et al. 2004

Clin Appl Thromb Hemost

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“…None had normal FXII antigen, the level varyng between 11% and 55% of normal. The abnormal forms were given the eponyms of Bari, Locarno, Toronto, and Valencia (Table 2) (22)(23)(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

Comparable Levels of Activity and Antigen in Factor XII Deficiency: A Study of 21 Homozygotes and 58 Heterozygotes

Girolami

Gavasso

Pacquola

et al. 2005

Clin Appl Thromb Hemost

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Results of coagulation studies on 21 homozygote patients with factor XII (FXII) deficiency revealed that all of them had no cross-reacting material (CRM) in their plasma. The 58 heterozygotes had in every instance an antigen level comparable to that of clotting activity namely, approximately 50% of normal. An analysis of all pertinent literature also showed that the presence of CRM is very rare in FXII deficiency. CRM is present in approximately 5% of homozygote patients. More precisely, seven of 145 patients. Only in one case, the antigen level was normal (FXII Washington). This prevalence appears lower than that observed for another contact phase factor (prekallikrein). The significance of blood abnormal forms of FXII has not been completely clarified yet. Their study appears useful in the attempt of clarifying the structure-function relation of factor XII.

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Functional Anomaly of Factor XII

Cited by 2 publications

References 4 publications

Thrombosis-free Surgical Procedures in Severe(Homozygote) Factor XII Deficiency: Report of Four Additional Cases and Literature Review

Thrombosis-free Surgical Procedures in Severe(Homozygote) Factor XII Deficiency: Report of Four Additional Cases and Literature Review

Comparable Levels of Activity and Antigen in Factor XII Deficiency: A Study of 21 Homozygotes and 58 Heterozygotes

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