Factor XII (Hageman Factor) Deficiency: A Very Rare Coagulation Disorder

Azaad, Mohammad Arphan; Zhang, Qiurong; Li, Yongping

doi:10.4236/ojbd.2015.54006

Cited by 8 publications

(9 citation statements)

References 5 publications

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“…A Lupus test was not performed as Lupus typically presents with thrombosis, and not bruising, and was not in line with the clinical picture of our patient [ 11 ]. Contact deficiency was also not considered as it is most likely to be asymptomatic, as opposed to our patient, who had recurrent symptoms [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Acquired Hemophilia of Unknown Etiology in an Elderly Man: Case Report

et al. 2018

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Patient: Male, 90Final Diagnosis: Acquired heamophiliaSymptoms: BruisingMedication: —Clinical Procedure: —Specialty: HematologyObjective:Unknown ethiologyBackground:Acquired hemophilia is a rare but potentially dangerous bleeding disorder caused by autoantibodies against coagulation factors. It affects 1 to 1.5 per 1 million people each year. While 50% of cases could be idiopathic, other causes include malignancies, diabetes, pregnancy, infection, and autoimmune disorders.Case Report:We report a case of a 90-year-old male who developed a spontaneous hematoma on the dorsum of his right hand, with no prior history of trauma or any other mucosal bleeding. His activated partial thromboplastin time (aPTT) was found to be prolonged (>180 seconds) with a very low level of factor VIII (0.1%).Conclusions:As workups did not identify the source, including malignancy and autoimmune diseases, of his acquired hemophilia, it is believed to be idiopathic. He was started on intravenous recombinant factor VIIa (NovoSeven) to control the bleeding in combination with an immunosuppressive therapy of cyclophosphamide and prednisolone. In approximately 10% of patients with acquired hemophilia, underlying malignancy, such as squamous cell cancer, chronic lymphocytic leukemia, non-Hodgkin lymphoma, and multiple myeloma can present and commonly develop in elderly patients. Therefore, patients diagnosed with idiopathic acquired hemophilia should be given long-term follow up.

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Section: Discussionmentioning

confidence: 99%

Acquired Hemophilia of Unknown Etiology in an Elderly Man: Case Report

et al. 2018

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“… 1 – 3 FXII is required for a normal result on surface-activated coagulation tests to diagnose possible coagulation factor deficiencies. 4 – 6 First described by Davie and Ratnoff in 1955, FXII deficiency, also known as the Hageman factor, is one of the rare abnormal in vitro coagulation defects that can be hereditary (i.e. autosomal recessive) or acquired.…”

Section: Introductionmentioning

confidence: 99%

Hereditary factor XII deficiency in an adult patient: A case report

Al-Ansari

Al-Yami

Almulhim

et al. 2022

SAGE Open Medical Case Reports

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Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was selectively admitted to the surgical department to treat a perianal fistula and found incidentally prolonged activated partial thromboplastin time and factor XII deficiency. Examination of the skin revealed no bruising, petechiae, or ecchymosis. Systemic examination was normal. Laboratory examination showed an activated partial thromboplastin time > 160 s (normal between 27 and 38), which was repeated twice with low factor XII < 5.7% (73–121). Other factors and the work of hemostasis were within the normal range. Surgery was delayed at the request of the patient. One year later, the patient was admitted to the clinic after surgery without bleeding and did not require factor correction before or after surgery. However, treating factor XII–deficient patients specifically for preoperative preparation is challenging. Therefore, this rare case should be recorded and reported the same way as a number of previously rarely reported cases.

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“…[ 1 ] However, a total absence of FXII as seen in homozygous patients, is rare, with an incidence of approximately 1/1,000,000 individuals. [ 2 ] Surprisingly, FXII deficiency is rather associated with thromboembolic complications. Patients do not experience a higher risk of surgical bleeding despite a markedly prolonged activated partial thromboplastin time (aPTT).…”

Section: Introductionmentioning

confidence: 99%

An Unanticipated Prolonged Baseline ACT During Cardiac Surgery Due to Factor XII Deficiency

Apostel

Bie

Kats

et al. 2022

Annals of Cardiac Anaesthesia

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Factor XII (FXII) deficiency is a congenital disorder inherited as an autosomal recessive condition. In his heterozygous form, it is relatively common in the general population. However, a total absence of FXII as seen in homozygous patients, is rare, with an incidence of approximately 1/1,000,000 individuals. Surprisingly, FXII deficiency is rather associated with thromboembolic complications. Patients do not experience a higher risk of surgical bleeding despite a markedly prolonged activated partial thromboplastin time. Given its low incidence in the general population, the finding of an unknown FXII deficiency is rare during cardiac surgery. This unique case describes a patient with an unanticipated prolonged baseline activated clotting time (ACT) during cardiac surgery in which his bleeding history and rotational thromboelastometry tracings lead us to the diagnosis of a FXII deficiency. The finding of a hypocoagulable INTEM tracing and a concurrent normal EXTEM tracing in a sample of a patient with prolonged ACT and adverse anamnestic bleeding history should prompt clinicians to consider a FXII deficiency. It may help clinicians in further perioperative management where there is not enough time to wait for the results of individual coagulation factor testing.

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Factor XII (Hageman Factor) Deficiency: A Very Rare Coagulation Disorder

Cited by 8 publications

References 5 publications

Acquired Hemophilia of Unknown Etiology in an Elderly Man: Case Report

Acquired Hemophilia of Unknown Etiology in an Elderly Man: Case Report

Hereditary factor XII deficiency in an adult patient: A case report

An Unanticipated Prolonged Baseline ACT During Cardiac Surgery Due to Factor XII Deficiency

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