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.

ON EXAMINATION

General Condition: Fair

Jaundice:Nil

Anemic :Nil

LN:Nil

Cyanosis:Nil

Clubbing:Nil

Oedema:Nil

Dehydration:Nil

VITALS:

P:68/min

BP:120/70mmHg

R/R:20/min

T:afebrile

Investigations

Complete Blood Count

Urine R/E

CT Scan of Head

Chest Xray

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

114.4seconds 2015-06-26

180 seconds 2015-06-26(repeated)

146.5 seconds 2015-06-27

107.1seconds 2015-06-30

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%

Diagnosis

Factor XII deficiency

Right Ureteric Calculi

Recurrent Sinusitis

TREATMENT

Inj Vitamin K

Inj Mannitol

Inj Calcium Gluconate

Tab CETRIZINE

and other supportive treatment.

LITERATURE

INTRODUCTION

Factor XII, also called Hageman factor, is an enzyme initiating the coagulation cascade. The main laboratory abnormality, which characterizes patients with factor XII defi ciency, 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

Coagulation Pathway

CONCLUSION

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.

Reference

1.Rygal P, Kuc A:Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports.2012 Oct-Dec;44(4):217-20.

 

2.Mariano ML,Yadira P,Ana A,Manuel L,JJ Lopez Galvez:Coagulation Factor XII Congenital Deficiency in Women with Recurrent Miscarriage.2011, 2, 469-472

 

3.Ozgu-Erdinc AS, Togrul C, Aktulay A, Buyukkagnici U, Yapar Eyi EG, Erkaya S:Factor XII (Hageman) levels in women with recurrent pregnancy loss.J Pregnancy. 2014;2014:459192

 

4.Ganguli P,Rigvardhan,Kotwal J:THROMBOSIS: PRESENTATION OF A FACTOR XII DEFICIENCY IN 10 MONTHS OLD CHILD - A RARE CASE.International Journal Of Advances In Case Reports, 2015;2(11):708-710.

5.RATNOFF OD, MARGOLIUS A Jr:Hageman trait: an asymptomatic disorder of blood coagulation.Trans Assoc Am Physicians. 1955;68:149-54.

 

6.Schmaier AH:The elusive physiologic role of Factor XII.J Clin Invest. 2008 Sep;118(9):3006-9.

 

7.Evi Stavrou and Alvin H. Schmaier:Factor XII: What Does It Contribute To Our Understanding Of The Physiology and Pathophysiology of Hemostasis & Thrombosis.Thromb Res. 2010 Mar;125(3):210-5.

 

8.Wang Y, Wang Z, Li H, Bi K, Zhu C:Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report.Int J Clin Exp Med. 2014 Oct 15;7(10):3725-9.

 

9.Ehrenschwender M, Koessler J, Brunner K, Steigerwald U:A 77-year-old man with a prolonged activated partial thromboplastin time.Clin Chem. 2012 Oct;58(10):1402-5.

 

10.Nizamoglu M, Alexander KS, Anwar U, Bhandari S:Isolated APTT prolongation-not always a bleeding risk in acute paediatric burns surgery.Eur J Plast Surg. 2014;37(12):695-696.

 

11.Renné T, Schmaier AH, Nickel KF, Blombäck M, Maas C:In vivo roles of factor XII.Blood. 2012 Nov 22;120(22):4296-303. doi: 10.1182/blood-2012-07-292094.

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