Essential Thrombocythemia Epidemiology

Key Highlights

• Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterized by an increased number of platelets in the blood. Most commonly diagnosed in women over the age of 50. 
• The primary cause of essential thrombocythemia is the overproduction of hematopoietic cells due to the mutations of the JAK2, CALR, or MPL genes. These genes are known as ’driver mutations’ due to their role in developing a myeloproliferative neoplasm. Though 90% of adults have JAK2, CALR, or MPL mutations, it is not unusual to find children with a molecular triple wild-type status.
• Many essential thrombocythemia patients are asymptomatic. Consequently, the disease is often diagnosed as part of a routine check-up after a blood test reveals a high platelet count. When symptoms are present, they may include fatigue or may be related to small or large vessel disturbance or bleeding.
• The signs and symptoms of essential thrombocythemia are associated with high platelet counts leading to the formation of blood clots, and may include pain, swelling, and redness in the arms or legs, as well as shortness of breath, chest pain, and cough.
• The median estimate of survival among ET patients is 20 years. However, depending on the age of presentation, this varies and as a result, median survival of patients younger than 60 years of age approaches 33 years. 
• The most common cause of morbidity and mortality is thrombosis, which occurs among 20% of ET patients, compared to bleeding complications in 10% of this population.
• In 2024, the total diagnosed prevalent cases of essential thrombocythemia in the 7MM were approximately 335,000. 
• In 2024, the United States reported the highest number of cases of essential thrombocythemia among the 7MM, accounting for approximately 50% of cases, followed by Japan with around 20%.
• In 2024, the US recorded a higher prevalence of ET cases in females 
• In 2024, the United States reported the highest number of JAK2 cases of ET followed by CALR, Triple Negative, and MPL cases. 
• In 2024, the United States reported the highest number of ET cases in individuals over 60 years, followed by cases in the 40–60 age group and in those under 40.
• Among EU4 and the UK in 2024, Germany had the highest cases of ET, while Spain had the lowest.

DelveInsight’s “Essential Thrombocythemia– Epidemiology Forecast – 2034” report delivers an in-depth understanding of essential thrombocythemia, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The table given below further depicts the key segments provided in the report:

Essential Thrombocythemia: Disease Understanding 

Essential Thrombocythemia Overview and Diagnosis

Essential thrombocythemia is a chronic Myeloproliferative Neoplasm (MPN) characterized by an increased number of platelets in the blood. Most commonly diagnosed in women over the age of 50, It is associated with a proliferation of platelet precursors in the bone marrow, and complications frequently include blood clotting and/or bleeding. Less common consequences in the later stages of essential thrombocythemia include a transformation to myelofibrosis (marrow scarring) or acute leukemia. The exact cause of ET and other MPNs remains unknown. Although essential thrombocythemia, like many MPNs, is not considered a genetically inherited condition, some patients may have a familial predisposition. Researchers have identified mutations in many individuals with essential thrombocythemia that affect proteins involved in signaling pathways, which play a crucial role in regulating cell growth and development.

Essential thrombocythemia is often initially suspected when a routine blood test reveals an elevated platelet count. Some patients, however, seek medical attention after noticing one or more symptoms associated with the condition. Through diagnostic tests and an evaluation of the patient’s medical history and symptoms, a physician can confirm an Essential thrombocythemia diagnosis and assess whether the condition falls into a low- or high-risk category.

Risk factors associated with Essential thrombocythemia include gender, with women being 1.5 times more likely than men to develop the condition; age, as it is more common in individuals over 60, though 20% of cases occur in those under 40; and genetic mutations, such as JAK2—found in approximately half of all patients—and CALR, both of which contribute to abnormal blood cell production.

Diagnosis of Essential thrombocythemia is based on several criteria, including a sustained platelet count of ≥450,000 per microliter; bone marrow biopsy revealing proliferation predominantly of the megakaryocytic lineage with increased numbers of enlarged, mature megakaryocytes with hyperlobulated nuclei, without significant increases or left shifts in granulopoiesis or erythropoiesis, and only minimal reticulin fibrosis if present; exclusion of other myeloid neoplasms such as BCR-ABL1–positive CML, polycythemia vera, myelofibrosis, MDS, or other related disorders; and the presence of a JAK2, CALR, or MPL mutation. 

Essential Thrombocythemia Epidemiology

The Essential thrombocythemia epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases, symptom-specific cases, gender-specific cases, mutation-specific cases, risk-specific cases, age-specific cases and total treated cases of essential thrombocythemia in the United States, EU4 (Germany, France, Italy, Spain) and the United Kingdom, and Japan from 2021 to 2034.

• In 2024, the United States accounted for around 35% of asymptomatic and 65% symptomatic cases of Essential thrombocythemia.
• In 2024, the United States recorded the highest number of JAK2 mutation-associated essential thrombocythemia (ET) cases, estimated at approximately 90,500. This was followed by CALR mutation cases at around 45,200, Triple Negative cases at approximately 25,000, and MPL mutation cases at about 6,700.
• According to Orphanet, the prevalence of ET in Europe is around 1–5 per 10,000 people.
• In 2024, gender-specific cases of essential thrombocythemia in the EU4 and the UK were estimated at 61,000 among females and around 40,000 among males. 
• In 2024, the EU4 and the UK reported the highest number of high-risk essential thrombocythemia cases, estimated at approximately 47,000. This was followed by low-risk cases at around 23,500, very-low-risk cases at approximately 16,000, and intermediate-risk cases at about 14,000.
• In 2024, Japan reported a higher prevalence of essential thrombocythemia cases in individuals over 60 years of age, with around 50,000 cases. This was followed by the 40–60 years age group, which accounted for approximately 12,500 cases.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of essential thrombocythemia, explaining its causes, signs and symptoms, pathogenesis, and current diagnosis methods.
• Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression have been provided.
• A detailed review of current challenges in establishing diagnosis and diagnosis rate is provided.

Essential Thrombocythemia Report Insights

• Patient Population
• Country-wise Epidemiology Distribution

Essential Thrombocythemia Report Key Strengths

• Ten-year Forecast
• The 7MM Coverage 
• Essential Thrombocythemia Epidemiology Segmentation

Essential Thrombocythemia Report Assessment

• Epidemiology Segmentation
• Current Diagnostic Practices

FAQs

Epidemiology Insights

• What are the disease risks, burdens, and unmet needs of essential thrombocythemia? What will be the growth opportunities across the 7MM concerning the patient population pertaining to essential thrombocythemia?
• What is the historical and forecasted essential thrombocythemia patient pool in the United States, EU4 (Germany, France, Italy, Spain) and the United Kingdom, and Japan?
• What is the diagnostic pattern of essential thrombocythemia?
• Which clinical factors will affect essential thrombocythemia?
• Which factors will affect the increase in the diagnosis of essential thrombocythemia?

Reasons to buy

• Insights on disease burden, details regarding diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the change in essential thrombocythemia cases in varying geographies over the coming years.
• A detailed overview of Total diagnosed prevalent cases of essential thrombocythemia, Symptom-Specific cases, Gender-Specific cases, Mutation-Specific cases, Risk-Specific cases, and Age-Specific cases is included.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the treatment-eligible patient pool.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.