Hemophilia at a Glance

Hemophilia and Bleeding Disorders Toolkit

Overview of Hemophilia: Hemophilia at a Glance

Understanding Rare Diseases

A rare disease is a condition that affects fewer than 200,000 people at any given time. An estimated 25-30 million people in the US are affected by one of the more than 6,800 rare diseases identified today. While medications have a significant impact on health outcomes and improved quality of life for people with rare diseases, they often come at a steep price for employers.

In 1983, the FDA created the Orphan Drug Act, which provided incentives for drug companies to develop treatments for rare diseases. Since this act was signed into federal law, more than 340 drugs have been approved to treat these very serious diseases. Even still, it is estimated that 95% of all rare diseases do not have an FDA-approved drug treatment.

According to America’s Health Insurance Plans (AHIP) 2019 report, the price of orphan drugs is increasing at a far more rapid pace than other specialty and traditional drugs. Off-label use for these therapies (e.g. use of a drug beyond its approved FDA indication) is also adding to costs. The high price tag these drugs often carry can be a significant burden for both the patient and employer. More employers are showing increased levels of concern over providing coverage for orphan drugs and other costly therapies in the pipeline, including gene therapies. With few having strategies in place to impact the rising costs of treatment, scrutiny is expected to intensify.

Read more about rare diseases from the National Human Genome Institute.

Facts About Hemophilia

Hemophilia is a genetic bleeding disorder that represents an important driver of health care costs for employers, consistently ranking among the top-10 high-cost claims conditions. This rare disease, which affects over 30,000 people in the US, requires a lifetime of intensive management, individualized care strategies and significant management by the patient. Because of the low prevalence of hemophilia, employers as a key payer group have very limited knowledge and receive minimal information from carriers, PBMs and consultants on best practices. Most often, employers receive information in a retrospective manner requiring them to respond after it presents in claims reports.

People with hemophilia are lacking one or more important proteins called clotting factors. In the absence of these proteins, blood cannot clot normally. The type of hemophilia a person has depends on the specific type of missing or deficient clotting factor. People with hemophilia bleed for a longer time than others after an injury or surgery and may also have internal bleeding that can damage organs and tissues and even be life-threatening. According to the Centers for Disease Control:

  • Family history of hemophilia is present in almost two-thirds of cases
  • Hemophilia occurs more commonly in men - 1 in every 5,000 male births
  • Primary symptoms are excessive bleeding and easy bruising
  • Bleeding can occur both externally and internally
  • Internal bleeding, which often happens in the space around the joints (especially the knee, elbow, ankle) and in muscles, frequently causes pain and swelling and can lead to decreased mobility and disability
  • Left untreated, bleeding can lead to permanent painful joint disease and sometimes death

Living with Hemophilia

Most people with hemophilia are diagnosed at a very young age. It is important for employers to be aware that this condition can impact employees, their spouses and/or children.

Living with hemophilia as an adult or as a primary caregiver can present psychosocial, physical and financial challenges. These challenges affect everything from activities of daily living to treatment adherence and work productivity. Managing hemophilia has a substantial impact the patient and caregiver alike, including:

  • Hemophilia-related absences from work or school (e.g. due to emergencies, hospitalizations)
  • Difficulty performing certain activities due to pain or mobility issues
  • Difficulty concentrating due to bleeds or pain
  • Fear and anxiety about accidental injuries

We want to make sure we’re focused on the whole patient and the family. In our case it was two dependents who had hemophilia. For the family, how has this impacted the father’s ability to be effective at work? For the company, how has this impacted disability costs, lost workdays, productivity, etc.?

Currently there is no cure for hemophilia, but very effective treatments are available in the US, primarily involving acute care of bleeds when they occur (on-demand) and regular administration of prophylaxis of clotting factor or substitution therapy (a medication that acts as a substitute for clotting factor) to help prevent bleeds. Generally, the goal of treatment is to decrease the frequency and severity of bleeding episodes and prevent complications related to bleeding.