Case history

Case history #1

A 60-year-old woman presents with burning pain in her hands and feet, and a headache. Her lower extremities have a dusky discoloration that is consistent with erythromelalgia. Her platelet count is 740,000/microliter.

Case history #2

A 64-year-old woman presents with dizziness and repeated transient ischemic attacks. A carotid ultrasound shows no significant stenosis. The platelet count is 820,000/microliter.

Other presentations

Approximately 40% to 50% of patients with essential thrombocythemia (ET) are asymptomatic at diagnosis, and thrombocythemia is an incidental finding on routine blood testing.[3][4]

Symptomatic patients commonly present with vasomotor symptoms or complications from thrombosis or bleeding.[3][5]

Vasomotor symptoms may include headache, lightheadedness, chest pain, paresthesia, vertigo, dizziness, and erythromelalgia (characterized by burning pain and dusky congestion of the extremities). Syncope, seizures, and transient visual disturbances are uncommon vasomotor manifestations.

Thrombotic events may include stroke, transient ischemic attacks, retinal artery or venous occlusions, coronary artery occlusion, pulmonary embolism, hepatic or portal vein thrombosis, deep vein thrombosis, and digital ischemia.[6]

Bleeding events are usually mild and manifest as epistaxis or easy bruising. The gastrointestinal tract is the most common site of major bleeding.[7]

Splenomegaly is present in approximately 10% to 20% of ET patients at diagnosis, and is usually only modest in degree.[8][9]

Among pregnant women, ET is associated with increased risk for spontaneous abortion.[9]​ Placental infarction may occur, due to vascular thrombosis, and lead to intrauterine growth retardation and fetal death. In most women, the fetus is lost during the first trimester.[10]​ Excessive bleeding during delivery is possible but uncommon.[11]​

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