Perioperative management of cardiac patient with hereditary factor xii deficiency

AbstractFactor XII deficiency is a rare disorder that can complicate the perioperative management of a patient. Factor XII plays an important role in the activation of intrinsic pathway of coagulation; the deficiency, therefore, results in prolongation of activated partial thromboplastin time (aPTT). This aPTT prolongation is expected to cause increased bleeding during surgery. However, on the contrary, in vivo isolated factor XII deficiency is associated with increased risk of thromboembolism (this risk being higher than the risk of bleeding). We report the perioperative management of a patient with factor XII deficiency who underwent cervical vertebral fusion (C1–C2) for atlantoaxial dislocation.

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Perioperative management of a patient with severe factor XII deficiency

European Journal of Anaesthesiology ◽

10.1017/s0265021504210134 ◽

2004 ◽

Vol 21 (10) ◽

pp. 829-830

Author(s):

C. Dragoumanis ◽

G. Vretzakis ◽

T. Vogiatzaki

Keyword(s):

Perioperative Management ◽

Factor Xii ◽

Factor Xii Deficiency

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Skeletal prognathism with factor XII deficiency causing complications in perioperative management: A case report

Advances in Oral and Maxillofacial Surgery ◽

10.1016/j.adoms.2021.100037 ◽

2021 ◽

Vol 2 ◽

pp. 100037

Author(s):

Hayato Hamada ◽

Yoko Kawase-Koga ◽

On Hasegawa ◽

Masato Watanabe ◽

Daichi Chikazu

Keyword(s):

Case Report ◽

Perioperative Management ◽

Factor Xii ◽

Factor Xii Deficiency

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New Families with Factor XII Deficiency

Thrombosis and Haemostasis ◽

10.1055/s-0038-1654070 ◽

1970 ◽

Vol 23 (03) ◽

pp. 441-448 ◽

Cited By ~ 3

Author(s):

O Egeberg

Keyword(s):

Coagulation Factors ◽

Factor Xii ◽

Bleeding Tendency ◽

Her Family ◽

Factor Xii Deficiency ◽

Hereditary Factor ◽

Increased Risk ◽

History Of ◽

Partial Factor ◽

Hemostatic Disorder

SummaryHereditary factor XII deficiency is reported in 2 unrelated Norwegian families.Case 1 was a 50 year old female, who was investigated because of a subcutaneous hematoma of unexplained cause. She had bruised easily, but neither she nor members of her family had suffered from definite and marked bleeding tendency. In the last years she had had hemoptyses of unknown cause. Five years ago she had a slight cerebral vascular episode with temporary hemiparesis in extremities. A sister had died 46 year old in cerebral apoplexy. The parents were first cousins.Case 2 was a 72 year old male. He had no definite history of bleeding tendency, neither had members of his family. He suffered from diabetes, hypertension and vascular encephalopathy. After the age of 67 he had several attacks of cerebral apoplexy with paresis of extremities, ataxia and parkinsonism.Blood factor XII was for both case 1 and case 2 found lower than 1% of normal average, while other coagulation factors were in the main normal. A probable partial factor XII deficiency was demonstrated in some of the relatives of case 1 and case 2, consistent with the hypothesis that the principal patients were homozygous for their coagulation abnormality.The study lends some support to a hypothesis that a factor XII defect might contribute to a hemostatic disorder, and especially to an increased risk for cerebral apoplexy.

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Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg

Hematology ◽

10.1080/10245332.2016.1265210 ◽

2016 ◽

Vol 22 (5) ◽

pp. 310-315 ◽

Cited By ~ 3

Author(s):

Xiaoli Cheng ◽

Lihong Yang ◽

Guoyong Huang ◽

Yanhui Jin ◽

Xiuping Hao ◽

...

Keyword(s):

Genetic Analysis ◽

Gene Mutation ◽

Consanguineous Marriage ◽

Factor Xii ◽

Factor Xii Deficiency ◽

Hereditary Factor

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Case 10: A patient with an isolated prolongation of the activated partial thromboplastin time without a bleeding problem – severe hereditary Factor XII deficiency

Therapeutische Umschau ◽

10.1024/0040-5930.56.9.509 ◽

1999 ◽

Vol 56 (9) ◽

pp. 509-512 ◽

Cited By ~ 3

Author(s):

Zeerleder ◽

Asmis ◽

Redondo ◽

Sulzer ◽

Lämmle

Keyword(s):

Partial Thromboplastin Time ◽

Activated Partial Thromboplastin Time ◽

Factor Xii ◽

Factor Xii Deficiency ◽

Hereditary Factor ◽

Von Willebrand ◽

Hämophilie A

Bei einer Patientin ohne Blutungsneigung und ohne anamnestische Thromboembolien wurde auf Grund einer isoliert stark verlängerten aPTT bei normaler Thromboplastinzeit (Quick) und normaler Thrombinzeit ein schwerer Faktor XII (FXII)-Mangel diagnostiziert. Ein Mangel eines der Faktoren des Kontaktaktivierungssystems (FXII, Präkallikrein, hochmolekulares Kininogen) wird meist zufällig, z.B. anläßlich eines präoperativ durchgeführten Gerinnungsstatus, anhand einer isolierten Verlängerung der aPTT entdeckt. Ein partieller oder schwerer Mangel von Faktor XII, Präkallikrein oder hochmolekularem Kininogen ist nicht mit einer verstärkten Blutungstendenz assoziiert. Personen mit einem Faktor XI-Mangel können unter einer meist milden hämorrhagischen Diathese leiden, FVIII-Mangel (Hämophilie A, Autoimmunhämophilie, von Willebrand Krankheit) und FIX-Mangel (Hämophilie B) sind mit einer Blutungsneigung assoziiert, deren Schweregrad vom FVIII- bzw. FIX-Spiegel abhängt. Eine isolierte aPTT-Verlängerung durch ein Lupus Antikoagulans ist demgegenüber oft mit einer Neigung zu arteriellen und/oder venösen Thrombosen assoziiert. Bei einer isolierten Verlängerung der aPTT muß deshalb immer eine weiterführende Abklärung erfolgen.

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