Rare Bleeding Disorders Can Be Life-Threatening and Hard to Diagnose
Education and Advocacy Because of their rarity, bleeding disorders are often unfamiliar and can take longer to diagnose.
For the average person, cuts, and bruises are a normal part of life. Our bodies are generally very effective at stemming the flow of blood and healing the vessel itself when an injury occurs. However, some people can be born with, or later acquire, conditions wherein the healing becomes much slower and less reliable. For those with hemophilia, a form of this condition, any instance of bleeding can become life-threatening.
Most cases of congenital hemophilia are genetically inherited, but some can occur as a result of a spontaneous gene mutation. Moderate and severe hemophilia are often diagnosed early in a child’s life. This means that treatment, education, and effective management can begin at a young age, and patients grow up knowing what to look for and how to best manage their disease.
In acquired hemophilia, however, there are additional dangers which result from unfamiliarity with the condition — especially in older patients who are dealing with multiple chronic conditions. “The typical person who develops acquired hemophilia is over 60,” says Dr. Jerry Teitel, Medical Director of St. Michael’s Hospital’s Hemophilia Treatment Centre in Toronto. “Many people of that age have other diseases and are on multiple medications.”
Rare diseases, late diagnoses
Acquired hemophilia is rare, which compounds its danger. “Rare diseases often go unrecognized precisely because of their rarity, resulting in a delay in diagnosis,” says Dr. Teitel. “Before effective treatment and good recognition, the death rate (for acquired hemophilia) was about 20 percent.”
For anyone who experiences its symptoms, including heavy bruising or excessive bleeding, it’s important to speak to a health care professional and be referred to a hematologist. “This is a condition that really does require specialized care,” says Dr. Teitel. “Not only does that mean seeing a hematologist, it means being treated whenever possible at a hemophilia treatment centre. Because it’s a rare disease, most community hematologists don’t have the experience or the lab backup needed to properly treat and follow it.”
Specialized treatment is available
Fortunately, there’s a network of hemophilia treatment centres across the country. Acquired hemophilia patients who are armed with this knowledge are likely to see their condition treated promptly and effectively. For more information about hemophilia and acquired hemophilia, visit the Canadian Hemophilia Society at hemophilia.ca.