Early History of Bleeding Disorders

Hemophilia has been recognized since early antiquity. Beginning with references in the Talmud in the 2nd century AD to the 12th century AD when an Arabic physician named Albucasis from Cordoba, Spain wrote of a family with males in a particular village, who had died of uncontrollable bleeding, after a trivial injury.¹

In 1803, Dr. John Conrad Otto, a physician from Philadelphia, provided the first modern description of hemophilia when he published “An account of an hemorrhagic disposition existing in certain families.”² But it wasn’t until 1828 that a student of Zurich University, Friedrich Hopff and his professor, Dr. Schonlein, coined the term “haemorrhaphilia” which became “haemophilia”. In 1947, Argentinian physician, Alfredo Pavlovsky discovered there were two types of hemophilia (A and B). The different factor deficiencies were further distinguished in the 1950s and 1960s.³Hemophilia B was distinguished from the more common hemophilia A in 1952 and was often referred to as "Christmas disease" after the last name of the first child described with this condition.⁴

Hemophilia is sometimes referred to as “the royal disease” because several members of royal families in Europe were affected by hemophilia when it was discovered that Victoria, Queen of England from 1837 to 1901, was likely a hemophilia B carrier.²Queen Victoria’s eighth son Leopold had hemophilia and suffered from frequent hemorrhages, consequently dying of a brain hemorrhage at the age of 31. Two of Queen Victoria’s daughters were carriers of hemophilia and transmitted the disease on to the Spanish, German and Russian royal families, forever changing the course of world history.^6,7

In 1926 Dr. Erik von Willebrand first described what would later be called von Willebrand disease, when he observed a young woman who bled to death during her fourth menstrual period. At least four other family members died from severe bleeding and although the condition was originally referred to as “pseudohemophilia” Dr. von Willebrand noted that in contrast to hemophilia, both genders were affected.⁸

Factor II and V deficiency were identified in the 1940s. The 1950s saw an explosion of work on rare factor deficiencies, as deficiencies of FVII, FX, FXI and FXII were first recognized. In 1960, FXIII deficiency was described. In the 1940s, bleeding disorders were first treated with blood transfusion. By the 1960’s patients were treated with plasma infusions and 10 years later, powdered concentrates allowed patients to self-infuse at home.⁹

Throughout the 1980’s, HIV/AIDS and hepatitis C were transmitted to patients via contaminated blood and blood products, such as clotting factor concentrates. As a result, approximately 50% of patients with hemophilia born before 1985 were infected with HIV and 80% of those born before 1990 were infected with Hepatitis C.^10,11

Today there are much stricter blood safety standards, and many individuals use synthetic replacement therapies that are not derived from human plasma. Factors derived from human plasma are still used, however, these modern therapies have extensive testing and undergo inactivation steps for pathogens.

Figure 1 delineates the historical perspective of the discovery of bleeding disorders and related treatments.¹²

Because of the advances in technology and treatment, coupled with the critical need for oral health care, dental providers should expect and be prepared to comfortably see and manage individuals with bleeding disorders. Treatment, including both preventive and restorative care, can be undertaken in a private dental office, but modifications are necessary to ensure safe and effective outcomes. Essential treatment modifications include direct communication, and care coordination with the patient’s hematologist and/or Hemophilia Treatment Center (HTC).

In addition, the focus on preventive care cannot be understated. It is paramount to mitigating the need for extensive dental work and the associated factor replacement required for patients with bleeding disorders. Unfortunately, in some cases, individuals with bleeding disorders have been refused treatment by dental offices due to lack of provider knowledge and potential complications.¹³With the proper knowledge and skills, dental providers can possess the confidence to successfully manage and treat individuals with bleeding disorders.