Hemophilia C Clinical Presentation

Updated: Aug 24, 2017
  • Author: Paula H B Bolton-Maggs, DM, FRCPath, FRCP; Chief Editor: Hassan M Yaish, MD  more...
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Presentation

History and Physical Examination

Suspect hemophilia C in any patient with a prolonged activated partial thromboplastin time (aPTT), especially if the family history suggests a mild-to-moderate lifelong bleeding disorder that affects both male and female individuals.

Acquired factor XI deficiency occurs in patients who develop inhibitors to the protein, as is sometimes observed in patients with systemic lupus erythematosus and other immunologic diseases.

Factor XI deficiency is described as a common finding in patients with Noonan syndrome, which is characterized by congenital cardiac abnormalities, short stature, and mental retardation. These individuals may have other coagulation defects and should be carefully assessed prior to surgery.

Bleeding after surgery or after injury is the usual presenting symptom in individuals with hemophilia C (but many individuals are now diagnosed after preoperative coagulation screening reveals an abnormal aPTT).

Individuals with factor XI levels less than 15-20 U/dL are usually at risk of excessive bleeding after surgery or trauma (but a recent review of all published evidence and review of 4 databases noted there is either no, or a very poor, relationship between factor XI level and bleeding [11] ). Some unusual presentations with spontaneous bleeding have been reported. In these cases, other pathologic features may contribute to the bleeding, because spontaneous bleeding is generally not a feature of hemophilia C. The unusual presentations include the following:

  • Massive hemothorax
  • Cerebral hemorrhage
  • Subarachnoid hemorrhage
  • Spinal epidural hematoma with the Brown-Sequard syndrome

Hematuria and spontaneous hemarthrosis are rare.

In women, menorrhagia is an important finding, and abnormal bleeding after childbirth may also occur.

Physical findings are usually normal except when bleeding occurs. Bruising may occur at unusual sites. The patient may have signs of pallor, fatigue, and tachycardia with excessive bleeding.