Inherited Coagulation Disorders

A number of congenital blood clotting factor deficiencies exist; but three diseases account for more than 90% of all inherited coagulant deficiencies. Deficiencies for discussion include: Hemophilia A, Hemophilia B, and von Willebrand’s disease. These diseases can present with mild to severe forms, which parallels the degree of deficiency of the blood coagulation factor.

Hemophilia A, also known as classic hemophilia, is caused by a defect or a deficiency in the activity or the amount of factor VIII, respectively. This hemophilia is a hereditary blood disorder that is transmitted as an X-linked recessive trait, thus, predominately affecting males over females. Its incidence rate is about 1 in 5,000 male births.1,2,5 The severity of this condition is related to the degree of the deficiency of factor VIII; therefore, the greater the deficiency of the blood level factor the greater the bleed. Regarding hemostasis, minimally 30% of factor VIII is required for normal activity. Approximately 60% of individuals with hemophilia A possess a severe degree of deficiency, which is less than 1% of factor VIII (Table 5).1,2,5,22 It is diagnosed by a positive family history, a history of bleeding episodes and a prolonged aPTT test with a normal PT test, along with inadequate levels of factor VIII. These series of laboratory tests indicate a defective intrinsic coagulation pathway. When considering the treatment planning for these patients, the dental professional should consult with the patient's hematologist. Usually, treatment for a minor bleed includes hemostatic dental products, local pressure, and/or cold compresses; treatment for an expected major bleed includes administration of factor concentrates termed purified factor VIII products.1,22,23

Table 5. Classifications of Hemophilia A and B.2
Classifications of Hemophilia A and B Degree of Deficiency Risk of a Bleed After Trauma or Surgery
Mild 5% to 30% Delayed onset of a bleed with trauma or surgery or dental extractions
Moderate 1% to 5% Excessive bleeding with surgery
Severe Excessive bleeding with trauma or surgery

Clinical characteristics of Hemophilia A include: bleeding into joints (hemarthrosis), commonly affecting knees, elbows and ankles; bleeding into soft tissues exhibiting extensive ecchymoses; bleeding into a closed space such as muscle can lead to life-threatening blood loss; intracranial bleeding; and bleeding into other sites such as gastrointestinal and urinary tracts.1,22

Hemophilia B, also known as Christmas disease or plasma thromboplastin component deficiency, is transmitted in a sex-linked recessive fashion similar to Hemophilia A. It is a bleeding disorder caused by a deficiency or defective factor IX within the intrinsic pathway of the coagulation system (Table 5).1,2,5 Not as prevalent as Hemophilia A, Hemophilia B accounts for 10–15% of all hemophiliacs. It is diagnosed by a positive family history, a history of bleeding episodes and a prolonged aPTT test with a normal PT test, along with inadequate levels of factor IX. Replacement therapy for factor IX is more variable because factor IX is distributed within and outside of the blood system, intravascular and extravascular respectively. Although, both purified and recombinant factor IX products (or high-purity FIX [factor IX] products) are recommended for the prevention or treatment of bleeding in patients with hemophilia B. Clinical features of hemophilia B are similar to hemophilia A: they include: deep tissue hemorrhage in joints, brain, and muscles.1,5,22,23

von Willebrand’s Disease (vWD) is a disease that includes a composite of two disorders:

  1. An inherited disorder of platelet adhesion, which involves a deficiency and/or a qualitative defect in von Willebrand's tissue factor (vWF); and, in some cases,
  2. Deficient or low levels of Factor VIII. Hence, this bleeding disorder leads to “a combined defect in platelet plug formation and fibrin formation.” 22

vWD is one of the most common inherited bleeding disorders; it presents itself clinically by spontaneous bleeding from “mucous membranes, excessive bleeding from wounds, menorrhagia, and a prolonged bleeding time in the presence of a normal platelet count.” 2,22 In most cases it is transmitted as an autosomal dominant disorder, grouped into 3 major variants: Type I (deficiency in vWF), Type II (qualitative defect in vWF), and Type III (both Type I and II defects), from a mild form to a severe form.24 vWD is diagnosed by a positive family history; history of a serious bleed from trauma or surgical procedures; spontaneous bleeding from mucous membranes, and laboratory tests showing prolonged aPTT, abnormal assay results (a decrease in factor VIII level); prolonged bleeding time and/or abnormal platelet function.1,2,5,24

Bleeding management options depend on the clinical condition of the patient and the type of vWD that is diagnosed (Type I, II or III). Such options include: Desmopressin, adequate plasma levels of von Willebrand's factor, and factor VIII concentrates (FVIII).2,23

Management and treatment of dental patients with inherited bleeding disorders present unique challenges to the dental practitioner. Firstly, knowledge about the bleeding disorder and its coagulation defect are necessary. Secondly, consultation with the patient’s hematologist should direct the dental professional to perform the invasive dental procedure in the dental office or in the hospital setting. This decision should be based upon the severity of the patient’s condition as well as the possible need for infusion of factor replacement therapy.25 Lastly and extremely critical, treatment planning must focus on individualized bleeding management strategies (Tables 6 and 7). Hence, comprehensive patient assessment, analysis of laboratory tests, collaboration with the supervising physician, and careful treatment planning to include hemostatic approaches are important elements in minimizing the bleed during and after invasive dental procedures.

Table 6. Dental Management of Patients with Hemophilia.2
Pre-treatment of invasive procedure: Management recommendations:
Consult with hematologist Hemophilia A: Factor VIII replacement, desmopressin (increases factor level)
Confirm diagnosis and severity of hemophilia e-aminocaproci acid (stablizes the clot)
Patients with mild to moderate hemophilia are usually treated in the dental office Hemophilia B: Purified Factor IX products
Patients with severe hemophilia are usually treated in a dental-based hospital setting von Willebrand’s: Factor VIII replacement; vWF in some cases; and Hemophilia A management recommendation
Table 7. Dental Management of Patients with Hemophilia.2
Management during invasive procedure: Management after the procedure:
Monitor bleeding:
Use good surgical technique Hospitalize the pt if bleeding is not controlled
Use hemostatic agents Examine pt 24-48 hrs post procedure: treat infection and/or bleeding issues
Hematologist will monitor hospitalized patient Avoid aspirin, use acetaminophen with or without codeine