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Factor XII deficiency
51 year old female with a history of Multiple Right Calculi, recurrent
sinusitis was incidentally found to have excessively High aPTT.
Medical History:No h/o DM,HTN,PTB,Hepatitis
Surgical History:ESWL performed 5 year back
Personal History:Non Smoker, Non Alcoholic
Allergic History:Non Significant
Obstetric History:Menarche at the age of 13,Menstural Period around 28 to 30 days.
General Condition: Fair
Complete Blood Count
CT Scan of Head
Liver Function Test and Renal Function Test were within Normal Limits.
Low Serum Levels of Calcium was noted.
aPTT value at Our Centre during patient’s inpatient stay
aPTT Date Of Investigations
180 seconds 2015-06-26(repeated)
146.5 seconds 2015-06-27
Measurement of clotting factor in percentage
Clotting Factor Percentage Detected Normal Limits
VIII 85.9% 50-150%
IX 46.4% 65-150%
XI 69.4% 65-150%
XII 0.10% 50-150%
Factor XII deficiency
Right Ureteric Calculi
Inj Vitamin K
Inj Calcium Gluconate
and other supportive treatment.
Factor XII, also called Hageman factor, is an enzyme initiating the coagulation cascade. The main
laboratory abnormality, which characterizes patients with factor XII deficiency, is an
asymptomatic prolongation in activated partial thromboplastin time (aPTT), whose incidence is
relatively low (1/1,000,000 individuals).
Factor XIIa plays a double role in the cascade reactions of coagulation. It can activate factor XI,
which subsequently activates factor IX (previous intrinsic pathway); however, this is its marginal
function. The conversion of plasminogen into plasmin by active factor XII and initiation of
fibrinolysis is of greater importance.
Although majority of patients with factor XII deficiency show prolonged activated partial
thromboplastin time (aPTT), haemorrhagic incidents are not usually associated with the hereditary
form of this factor. On the contrary, these patients suffer more often from thromboembolism as did
Hageman himself .
Many studies have linked Factor XII deficiency with recurrent pregnancy loses.
Coagulation factor XII deficiency is either congenital or acquired.
Congenital coagulation factor XII deficiency is a kind of rare autosomal recessive hereditary
disease, and its clinical manifestation is low factor concentration without significant bleeding.
Therefore, coagulation factor XII deficiency is often diagnosed before surgeries or during
routing coagulation tests.
In recent years, the fibrinolysis effect of coagulation factor XII attracts more and more
concerns and is thought to be greater than the effect of coagulation factor XII in intrinsic
coagulation pathway. Currently, researches on coagulation factor XII are mainly focused on
cardiovascular and cerebrovascular diseases.
An algorithm for the workup for a prolonged aPTT is shown is shown below.
Mechanism for Factor XII activation
We can assume that since most of the patient detected with Factor XII deficiency are
asymptomatic, so no immediate modes of treatment will be required. However, a close monitor
on the patient must be done whether patient may or may not manifest as thrombotic disorder
rather than bleeding disorders.
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