Glanzmann’s thrombasthenia (GT) is a rare genetic condition that affects the way your blood clots, leading to prolonged or excessive bleeding. This guide explains the disease, its causes, symptoms, treatments, and how to manage living with it.
What is Glanzmann’s Thrombasthenia?
Glanzmann’s thrombasthenia is a bleeding disorder caused by a problem with your platelets. Platelets are small cells in your blood that help form clots to stop bleeding when you have an injury. In GT, the platelets lack a protein called glycoprotein IIb/IIIa (a receptor on the surface of platelets), which is essential for platelets to stick together and form clots. As a result, people with GT may experience frequent or severe bleeding episodes.
Key Facts About Glanzmann’s Thrombasthenia
Background
- GT was first described by Dr Eduard Glanzmann in 1918.
- It is classified as a platelet function disorderbecause the platelets are present in normal numbers but do not work properly.
Causes
- GT is caused by mutations in the ITGA2B or ITGB3 genes, which provide instructions for making glycoprotein IIb/IIIa.
- These mutations are inherited in an autosomal recessive pattern, meaning both parents must pass on a faulty gene for their child to develop the condition.
Incidence and Prevalence
- Incidence: GT is extremely rare, with an estimated occurrence of 1 case per 1 million people worldwide.
- Prevalence: It is more common in populations where marriage between close relatives (consanguinity) is more frequent, such as in parts of the Middle East, South Asia, and North Africa.
Who is Affected?
- Age: Symptoms can appear at any age but are often noticed in infancy or early childhood when bleeding problems first occur.
- Gender: Both males and females are equally affected.
- Ethnicity: GT occurs across all ethnic groups but may be more prevalent in certain populations due to genetic factors.
How Does Glanzmann’s Thrombasthenia Impact You?
Symptoms
The severity of symptoms can vary from person to person but may include:
- Easy bruising.
- Frequent nosebleeds (epistaxis).
- Bleeding gums, especially after brushing teeth or dental procedures.
- Heavy or prolonged menstrual bleeding (menorrhagia) in women.
- Prolonged bleeding after surgery, childbirth, or injuries.
- Rarely, internal bleeding or life-threatening haemorrhages.
Living With Glanzmann’s Thrombasthenia
Living with GT requires careful management of bleeding risks and regular medical care. People with GT may need to avoid certain activities that could lead to injuries or bleeding.
Expected Life Expectancy
With proper treatment and management, most individuals with GT can live a normal lifespan. However, severe cases with uncontrolled bleeding may lead to complications.
Managing and Treating Glanzmann’s Thrombasthenia
Available Treatments
While there is no cure for GT, treatments focus on managing bleeding episodes and preventing complications:
- Medications:
- Antifibrinolytic drugs (e.g., tranexamic acid): Help prevent clots from breaking down too quickly during minor bleeds or procedures.
- Hormonal therapy (e.g., oral contraceptives): May be used to manage heavy menstrual bleeding in women.
- Platelet Transfusions:
- Platelet transfusions may be given during severe bleeding episodes or before surgery to temporarily restore clotting ability.
- Recombinant Factor VIIa Therapy:
- This medication helps bypass the defective platelet function and promotes clot formation during serious bleeds.
- Avoidance of Certain Medications:
- Aspirin and non-steroidal anti-inflammatory drugs (NSAIDs) should be avoided as they can worsen bleeding.
- Bone Marrow Transplantation:
- In very severe cases where other treatments are ineffective, a bone marrow transplant may be considered as a potential cure.
Ongoing Clinical Research
Research into GT aims to improve treatment options and understanding of the condition:
- Gene Therapy: Scientists are exploring ways to correct the genetic mutations responsible for GT.
- New Medications: Trials are underway for drugs that could enhance platelet function or reduce bleeding risks.
- Improved Diagnostic Tools: Efforts are being made to develop better tests for early diagnosis and monitoring of GT.
Support Groups and Resources
If you have been diagnosed with Glanzmann’s thrombasthenia, connecting with support groups can provide valuable information and emotional support:
- The Platelet Disorder Support Association (PDSA) (org)– Offers resources for individuals living with platelet disorders like GT.
- Rare Disease UK (org.uk)– Provides support for people living with rare conditions.
- Haemophilia Society UK (org.uk)– Offers resources for patients with bleeding disorders.
- Global Genes (org)– Connects patients with advocacy groups for rare diseases.
Remember:This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.
