Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

In recognition of Bleeding Disorders Awareness Month, the disease that we will be learning about today is:

Glanzmann’s Thrombasthenia

What is Glanzmann’s Thrombasthenia?

• Glanzmann’s thrombasthenia is a rare bleeding disorder that often gets overlooked in conversations about bleeding disorders, which tend to focus on more common and well known conditions like hemophilia
• The disorder is characterized by abnormal platelets
• Platelets in Glanzmann’s thrombasthenia have either low levels of or defective glycoprotein IIb/IIIa, a receptor of fibrinogen
  • Three types of Glanzmann’s thrombasthenia have been identified, depending on how much of the glycoprotein is available
  • Fibrinogen is vital for the binding together of platelets to stop bleeding
• As a result, much like in hemophilia, Glanzmann’s thrombasthenia patients have prolonged bleeding times
  • However, there are still differences in symptoms between the two diseases
• The condition is named after Eduard Glanzmann, a pediatrician of Swiss origin who first described it.

How Do You Get It?

• Glanzmann’s thrombasthenia has two main causes:
  • It can be inherited in an autosomal recessive fashion. Researchers have identified mutations affecting the ITGA2B and ITGB3 genes as causing the disorder, which provide instructions for the production of glycoprotein IIb/IIIa
  • In some cases, the disorder is acquired as an autoimmune disease

What Are The Symptoms?

• Much like hemophilia, abnormal bleeding and prolonged bleeding after an injury are common symptoms. However, the severity can vary greatly from patient to patient. This often depends on which type of Glanzmann’s thrombasthenia the patient has; however, even within the same family, there can be significant differences.
• Symptoms can include:
  • Heavy menstrual bleeds
  • Increased postoperative bleeding
  • Easy bruising
    • In mild cases, this may be the only prominent symptom
  • Nosebleeds
  • Bleeding from the gums
  • Postpartum bleeding
  • Gastrointestinal bleeding
    • Occurs in around a quarter of patients, typically later in life
  • Petechiae, small red or purple spots indicating bleeding beneath the skin
  • Hematoma, swelling caused by tissue bleeding
• Unlike in severe cases of hemophilia, bleeding in the brain or joints is rare.
• Like hemophilia, severe bleeding can be potentially lethal

How Is It Treated?

• In general, treatment is oriented towards managing and preventing bleeding episodes
• A number of approaches are employed, such as:
  • Hepatitis B vaccine
  • Hematopoietic stem cell transplant
    • Typically employed in severe cases of frequent, life-threatening bleeds
    • Strict dental hygiene, including flossing, in order to reduce gum bleeding
    • Treatment with recombinant factor VIIa, which was first approved in 2014
    • Iron or folate supplements
      • This may be necessary if bleeds cause anemia
    • Platelet transfusions, if bleeding is severe
    • Antifibrinolytic drugs
    • Hormonal contraceptives
      • In women, these can control heavy menstrual bleeds
    • Desmopressin

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the Glanzmann’s Research Foundation.