What are the signs and symptoms of essential thrombocythemia?

Essential Thrombocythemia (ET), also known as essential thrombocytosis, is a rare chronic blood disorder where the bone marrow produces too many platelets. While some individuals remain symptom-free and only learn about the condition during routine blood tests, others may experience a wide range of symptoms, some mild, others more serious. Understanding these symptoms can help guide timely diagnosis and management.

Common Signs and Symptoms of ET 

The most frequently reported symptom of ET is fatigue. Over 90% of patients describe a persistent, sometimes overwhelming tiredness that affects their daily life. 

• Erythromelalgia is a hallmark symptom of ET: burning, tingling, redness, and warmth in the hands and feet. This happens when high platelet counts cause blood to flow abnormally through small vessels. Bruising and bleeding may seem unexpected, but in ET, platelets often don't function properly, increasing the risk of nosebleeds, gum bleeding, or heavy menstrual periods.
• Headaches are also common and can be severe or migraine-like. Some people feel dizzy or lightheaded due to poor blood flow.
• Dizziness or lightheadedness: These symptoms are often due to the increased number of platelets that can cause sluggish or irregular blood flow.
• Bleeding or bruising easily: Despite the high platelet count, the platelets in ET are often dysfunctional which can lead to bleeding or bruising.
• Abdominal pain: As the spleen works harder to filter extra platelets, it may enlarge (splenomegaly), leading to a feeling of fullness or discomfort in the upper left abdomen.
• Blood clots are a serious concern. These may cause strokes, heart attacks, or clots in unusual areas like the liver.
• Other symptoms: Some patients also experience night sweats, itching, bone pain, or brain fog.

The variety and intensity of symptoms differ from person to person. Some may have no symptoms at all, while others deal with multiple complications.

The Importance of Recognizing Your Symptoms

Recognizing symptoms early is important. While ET is considered a chronic and often manageable condition, untreated high platelet counts can raise the risk of clots, bleeding, or disease progression. In some cases, extreme thrombocytosis (platelet count >1 million) can even trigger acquired von Willebrand disease, a bleeding disorder. This blood disorder, when inherited, is characterized by a deficiency or defect in von Willebrand factor (VWF), a protein crucial for blood clotting. When acquired, it is characterized by impaired platelet adhesion and aggregation. This can lead to excessive or prolonged bleeding after injury or surgery, and other symptoms like frequent nosebleeds or heavy menstrual periods.

Seek Care For Your Essential Thrombocythemia

If you or someone you know is experiencing any of the above symptoms, it is important to seek medical attention. While ET is a chronic condition that can't be cured, treatments are available to manage symptoms and reduce the risk of complications. Treatment options can include medications to reduce platelet count or blood thinners to prevent clots. Regular monitoring of blood counts and symptoms is also an important part of managing ET. Remember, early detection and management can greatly improve the quality of life for individuals with essential thrombocythemia.

Keep Exploring

Want to better understand your diagnosis and what to expect? Continue reading our Essential Thrombocythemia 101 series. Whether you're newly diagnosed or supporting someone who is, these resources can help you feel informed, prepared, and empowered.

Keep reading How Is Essential Thrombocythemia Diagnosed?

Sources: 

• Essential thrombocythemia: Biology, clinical features, thrombotic risk, therapeutic options and outcome
• Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management
• Essential Thrombocytosis