Treatment Options for Hemophilia

Treatment Goals

Hemophilia is a bleeding disorder characterized by a lack of or low levels of certain proteins called clotting factors. These clotting factors are responsible for helping the blood to clot properly. There are several types of hemophilia, but they all involve low levels of either clotting factor VIII or factor IX. Hemophilia is primarily inherited, which means it is passed down through families and people are born with the genetic mutation that causes the lack of a specific clotting factor. In rare cases, hemophilia develops later in life as an autoimmune disease. This is called acquired hemophilia.

The objective of treating hemophilia is to prevent bleeding episodes and manage the symptoms associated with the condition. While treatment may not be curative, it can help slow down the progression of the disease and control symptoms effectively. The main goals of treatment include:

• Preventing or treating bleeding: The primary aim of treatment is to replace the missing or deficient blood clotting factor in individuals with hemophilia. These treatments can be:
  • Episodic: Given when needed to treat bleeding episodes or prior to surgery or other procedure that may cause bleeding.
  • Prophylactic: Given on a regular basis so someone has enough clotting factor in their blood to prevent bleeding episodes.
• Managing symptoms: Treatment also involves managing the symptoms associated with hemophilia, such as pain and joint damage.
• Slowing down disease progression: By initiating prophylactic treatment, which involves regular infusion of clotting factor concentrates, the progression of hemophilic arthropathy (joint damage) can be slowed down. Prophylaxis is recommended by various guidelines, including those from the World Federation of Hemophilia (WFH), National Hemophilia Foundation (NHF), and British Society for Hematology (BSH).

It's important to note that treatment approaches may vary depending on the type and severity of hemophilia an individual has. Treatment plans are personalized based on factors like age, overall health, tolerance for medications, and underlying causes. In some cases where hemophilia is acquired and not inherited, treatment may also involve addressing any underlying health conditions that contribute to the development of acquired hemophilia.

It's important to work closely with healthcare professionals who specialize in this condition to develop a personalized treatment plan that suits individual needs.

Treatment Options

The recommended initial treatment for hemophilia is usually the replacement of the missing blood clotting factor. This can be done by injecting clotting factor concentrates into a person's blood through their veins. The purpose of this treatment is to provide the missing protein and prevent complications associated with the condition.

Medications

• Clotting Factor Replacement: Clotting factors may be given to people with hemophilia on an on-going basis to replace the clotting factor that is missing or not functioning properly. Clotting factors helps them form clots and prevent or stop bleeding. The specific type of hemophilia will determine the type of clotting factor replacement therapy prescribed. Some clotting factors are made from human plasma from blood donors and others are recombinant (genetically engineered, not made from human plasma).
  • Concentrated Factor VIII (FVIII): These are infused medications for treating Hemophilia A.
  • Concentrated Factor IX (FIX): These are infused medications for treating Hemophilia B.
• Non-factor and Bypass Treatments: Bypass treatments enable clotting to occur without the missing clotting factor.
  • Desmopressin acetate: This medication is similar to a natural hormone in the body that causes Factor VIII to release from where it is stored in the body. It is used for people who have mild Hemophilia A and are able to make some Factor VIII.
  • Emicizumab: This is a newer, non-factor treatment for Hemophilia A. It is a monoclonal antibody that acts like Factor VIII to enable clotting. This medication is given as a subcutaneous injection (shot under the skin).
  • Marstacimab: This is a newer, non-factor treatment for Hemophilia A and Hemophilia B. It is a monoclonal antibody that prevents inhibition of Factor Xa, which enables clotting by bypassing Factor VIII or Factor IX in the normal clotting cascade. This medication is given as a subcutaneous injection (shot under the skin).
• Anti-fibrinolytics: These medications help prevent clots from breaking down, which can help control bleeding. Aminocaproic acid is an example of an anti-fibrinolytic drug. It may be prescribed prior to dental or other procedures to help prevent bleeding after the procedure.
• Gene Therapy: Gene therapies are one of the newest treatments for hemophilia. Gene therapy involves infusing a medication with the gene needed to produce clotting factor. Currently available gene therapies for hemophilia are:
  • Valoctogene roxaparvovec-rvox: This gene therapy is approved for adults with Hemophilia A.
  • Etranacogene dezaparvovec: This gene therapy is approved for adults with Hemophilia B.
  • Fidanacogene elaparvovec: This gene therapy is approved for adults with Hemophilia B.

Other Therapies

• Fibrin sealants: These are medicines applied directly to cuts and wounds to help clotting.
• Physical therapy: In more severe cases where hemophilia has damaged joints, physical therapy may be recommended for rehabilitation. This can help improve joint function and manage pain.
• Surgery: In some cases, surgery may be necessary to treat complications, such as joint damage or internal bleeding.
• Radiation therapy: Radiation therapy may be used to target specific areas affected by hemophilia, such as joint pain or swelling.

Lifestyle and Self-Care

In addition to medication and therapeutic procedures, there are certain lifestyle behavior changes that can help manage hemophilias:

• First aid: Pressure bandages and ice packs are recommended to manage minor cuts and small areas of bleeding.
• Avoid medications that may increase risk of bleeding: This includes blood thinning medications, aspirin, and non-steroidal anti-inflammatory drugs (NSAIDs). Consult a healthcare professional before starting new medications.
• Avoid activities that may cause injury or bleeding: Individuals with hemophilias should avoid activities that have a high risk of injury or bleeding, such as contact sports or activities that involve sharp objects.
• Regular check-ups: Regular check-ups with healthcare providers are important for monitoring the condition and adjusting treatment as needed.
• Dental care: Dental procedures should be performed with caution, and specific measures may be taken to ensure minimal bleeding during dental treatments.
• Get vaccinations: The Centers for Disease Control and Prevention (CDC) recommends that people with hemophilia receive recommended vaccines. Be sure the healthcare professional administering the vaccine is aware you have hemophilia and uses the smallest gauge needle possible. Apply pressure or ice for 3-5 minutes after injection to reduce risk of bleeding.
• Lifestyle behavior modification: Although not directly related to treating hemophilia, the following may be recommended for people with hemophilia:
  • Smoking cessation: Quitting smoking can help improve overall health and reduce the risk of complications related to Hemophilia.
  • Alcohol moderation: Limiting alcohol consumption can help minimize the risk of injury and bleeding episodes.
  • Nutrition and diet changes: Maintaining a healthy diet rich in vitamins and minerals can support overall health and aid in blood clotting.
  • Activity changes: Engaging in low-impact physical activities can help strengthen muscles and joints, reducing the risk of bleeding and injury.

Overall, the goal of treatment for hemophilias is to prevent bleeding episodes, manage pain, and improve overall quality of life for individuals living with these conditions. Treatment plans will vary depending on the specific type and severity of hemophilia, and should be discussed with a healthcare provider who specializes in hemophilia. They can provide personalized recommendations based on an individual's specific needs and medical history.

Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Side effects can occur. Check with your health care professional or read the information provided with your medication for side effect information.