Overview 

What is glanzmann thrombasthenia?

Glanzmann Thrombasthenia is a rare and hereditary, but sometimes acquired, bleeding disorder that affects the cells responsible for the clotting of blood; these cells are called platelets.¹ People with Glanzmann Thrombasthenia experience bleeding that ranges from mild to severe, and common symptoms include bruising, nose, and gum bleeds.² Glanzmann Thrombasthenia is a lifelong condition. While people with the condition have a similar life expectancy to people without the condition, the symptoms of Glanzmann Thrombasthenia can mean people who inherit the condition have a reduced quality of life for physical, emotional and social reasons.

Symptoms 

Symptoms of Glanzmann Thrombasthenia often begin early in life, leading to early diagnosis and may decrease with age.^1,2 As a bleeding disorder, Glanzmann Thrombasthenia has symptoms similar to other bleeding disorders: 

• Bleeding of the gums 
• Nose bleeds 
• Heavy periods 
• Bleeding for long periods of time from small injuries 
• Excessive bleeding during surgery 
• Bruising 
• Purpurae, red or purple spots on the skin that appear due to bleeding beneath the skin

Usually, random bleeding is uncommon, and symptoms of Glanzmann Thrombasthenia usually occur because of physical contact. Young children who pick their noses tend to have frequent nosebleeds, and bruising occurring from bumping into the area isn’t unusual. Gum bleeding occurs most in patients with poor dental hygiene and is rare in patients maintaining good dental hygiene.¹ Excessive bleeding happens in situations when someone is already bleeding, for example, heavy bleeding during surgery may occur (for people with milder symptoms, causing them to not be diagnosed in childhood, surgery can be when they are diagnosed with the condition), and women typically experience heavy bleeding during their period.³ Excessive bleeding following circumcision in baby boys is also common.^1,2

Causes 

When you injure yourself, your blood clots to stop the bleeding and a key cell involved in this process is are platelet cell. Platelet cells bind together (officially known as platelet aggregation) and bind to proteins such as fibrinogen and collagen to plug the injury.³

In hereditary Glanzmann Thrombasthenia, the platelet cells have a genetic defect affecting the glycoprotein 11b/11a receptor responsible for platelet aggregation.³ The platelets fail to aggregate, and no clot is formed. People with the condition experience longer periods of bleeding than people without the condition. 

Acquired Glanzmann Thrombasthenia is another form of the condition and is the result of an autoantibody attack on the glycoprotein 11b/11a receptor. The production of autoantibodies has been associated with aspirin and blood disorders, including:¹

• Non-Hodgkin’s lymphoma
• Multiple myeloma
• Myelodysplastic syndrome 
• Hairy cell leukaemia 
• Acute lymphoblastic leukaemia²

Who it affects 

Glanzmann Thrombasthenia is a homozygous recessive condition, meaning in order to have the condition, you need to inherit genes from both of your parents. 

Glanzmann Thrombasthenia is a rare, inherited condition that people are born with and continue to have for the duration of their lives. Approximately 500 people have been diagnosed with the condition, though the condition may be underdiagnosed due to lack of access to diagnostic facilities, milder symptoms or diagnosing patients with the wrong bleeding disorder.^3,4 Glanzmann Thrombasthenia may be more common in the following populations:

• Women
• In populations where marriage between family members is common³

Diagnosis 

Diagnosis of Glanzmann Thrombasthenia initially includes evaluating the medical and family history of the patient. Symptoms are present from birth and onwards, so the majority of individuals are diagnosed as newborns. Diagnosis tests and methods include:

• A full medical and family history 
• Light transmission aggregometry
• Platelet function analyser 
• Bleeding time 
• Through analysis of the mutation in the platelet^2,3,4

Bleeding disorders can present similarly. To assist in the final diagnosis, some tests may be done to exclude other conditions: 

• Completed blood count
• Prothrombin time 
• Activated partial thromboplastin time²

In patients with Glanzmann Thrombasthenia, all of these results should return as in range. Patients are usually diagnosed at a young age, and some experience fewer symptoms as they get older.¹

Physical health and limitations 

The impact of Glanzmann Thrombasthenia on physical health is the most obvious. Patients experience a variety of bleeding-related symptoms, including: nosebleeds, gum bleeding, bruising and excessive bleeding from cuts and heavy periods in women.⁵ Some patients experience bleeding episodes every week.⁵ Overtime, frequent bleeding can lead to iron-deficient anaemia, leading to the symptoms of

• Fatigue 
• Coldness 
• Lethargy 
• Shortness of breath 
• Reduced exercise tolerance
• Hair loss 
• Paleness 

People with Glanzmann Thrombasthenia either choose or are forced to avoid or minimise physical activities such as Physical Education, school sports day and physical exercise to reduce the risk of bleeding or bruising.⁷ However, there is also a health risk associated with this, as it can decrease their overall health. 

Some studies have noted that patients with Glanzmann Thrombasthenia tend to be highly educated and continue formal education for longer than people without the condition.¹⁰ This can be explained by people with the condition working in roles where they are likely to be sitting or stationary. Working in physically active jobs increases the chance of bumping into hard objects, workplace injuries, which would lead to bruising or bleeding, requiring time off work.

Emotional health and psychological impact 

Regardless of severity, patients experience emotional distress stemming from symptoms of the condition.⁵ In school, patients may be victims of bullying, causing emotional distress. This can cause isolation. Adults and children may develop symptomatic depression, severe depression and self-esteem.

Social and occupational challenges

The effect of Glanzmann Thrombasthenia on social and occupational opportunities is another important factor to consider. 

School 

In school, bullying can occur to children with Glanzmann Thrombasthenia due to physical symptoms such as bruising and frequent nosebleeds. Emotional distress can arise from bullying, resulting in patients isolating themselves from their peers.⁷ Patients are also discouraged from taking part in Physical Education, sports days and physical play during lunch or break to prevent provoking bleeding episodes or bruising, also leading to embarrassment and further isolation of young children from their peers.⁷ When reflecting on their childhood, people with Glanzmann Thrombasthenia have reported missing school, falling behind in subjects and not enjoying school as much as they may have due to their condition.⁷ 

Work

Bullying may not occur in the workplace as frequently as it does in school, however, adult patients often struggle with a lack of support from their employer. A severe bleeding episode might require a blood or plasma transfusion, which will require time off work.⁷ While some employers are understanding and accommodating, not all are. Frequently taking time off work can negatively affect career prospects, lead to disciplinary action and in some scenarios, lead to job terminations caused by frequent absences.⁷ It can also create tension in the workplace amongst colleagues. 

Relationships

In romantic relationships, there may be challenges related to starting a family. Women with Glanzmann Thrombasthenia are at a higher risk of extreme bleeding during labour.² As with other general surgeries, if they were to require a caesarean section, they would require blood or plasma transfusions. Many people with inherited disorders also do not want to risk passing their condition to their children, making family planning difficult. 

During childhood and adolescence, the development of platonic relationships between patients with Glanzmann Thrombasthenia and other children can be negatively impacted. Patients with the condition can be excluded from physical activity, bullied, teased and excluded from social circles.⁷ 

Parents also worry about their children with the disease. Siblings of children with inherited conditions can feel overlooked in favour of siblings with the condition, causing tension in the family.

Summary 

• Glanzmann Thrombasthenia is a rare inherited condition causing a defect in the genes of platelet cells that prevents blood clotting
• Symptoms include bruising, excessive bleeding from injuries and heavy periods
• Quality of life in patients with the condition can be affected physically, emotionally and socially
• Physically, due to the onset of anaemia and exclusion from physical activities as a child and teenager
• Patients with Glanzmann Thrombasthenia have discussed having low self-esteem and depression due to the condition. Exclusion from activities from an early age adds to this
• Socially, due to bull
• Bullying in school and a lack of accommodation in the workplace and schools