Confirm disease name
- This is a medically used term. (Myeloproliferative neoplasm; major subtypes: polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), etc.)
1) Disease Description (Causes and Symptoms)
- Causes and pathophysiology
- A group of diseases in which clonal abnormalities of the hematopoietic system cause excessive production of red blood cells, white blood cells, and platelets in the bone marrow.
- Common genetic mutations: JAK2, CALR, MPL (chronic myeloid leukemia is also associated with the BCR‑ABL fusion gene).
- As bone marrow fibrosis progresses, normal hematopoiesis is impaired, resulting in compensatory hematopoiesis in the spleen and liver.
- Main symptoms
- Thrombosis (arterial and venous), bleeding tendency, splenomegaly, fatigue·malaise, weight loss, fever, night sweats
- PV: facial flushing, headache, symptoms related to hyperviscosity (increased blood viscosity)
- ET: platelet-related thrombosis and bleeding, burning sensation in the hands and feet (erythromelalgia)
- PMF: anemia, splenomegaly (feeling of fullness in the left upper abdomen), systemic symptoms (constitutional symptoms)
2) Treatment Methods and Precautions
- Treatment goals
- Prevent thrombosis and bleeding, relieve symptoms, suppress progression (myelofibrosis and transformation to acute leukemia), and improve survival (curative treatment is considered particularly for younger patients)
- Medication and procedures
- Thrombosis prevention: low-dose aspirin (decided after assessing the individual bleeding risk)
- Reducing red blood cell count (PV): repeated phlebotomy + low-dose aspirin if necessary
- Cytoreductive agent: hydroxyurea — blood cell count control in older and high-risk patients
- Interferon (pegylated interferon) — a preferred alternative for patients who are pregnant or planning pregnancy and for younger patients
- Targeted therapy: JAK inhibitors (e.g., ruxolitinib) — mainly for PMF and refractory PV, with the aim of relieving symptoms and reducing spleen size
- High-risk or progressive disease: allogeneic hematopoietic stem cell transplantation (the only potentially curative option, mainly for young and suitable patients)
- Emergency and specialized treatment when bleeding or thrombosis occurs, respectively (including anticoagulation and platelet transfusion)
- Lifestyle management
- Quit smoking, exercise regularly (be aware of the risk of thrombosis from excessive dehydration and strenuous exercise), and drink sufficient fluids
- Consult in advance about a plan for anticoagulation and platelet management in the event of infection, surgery, or prolonged hospitalization
- Precautions and risk of complications
- Risk of thrombosis (stroke, myocardial infarction, deep vein thrombosis, pulmonary embolism) and bleeding
- May progress over time to myelofibrosis or acute myeloid leukemia (risk varies by subtype and genetic mutation)
- Regular monitoring is necessary for medication side effects (bone marrow suppression, abnormal liver function, etc.)
3) Checklist Before an Outpatient Visit (Items to Prepare and Points to Confirm)
- Items to prepare
- List of currently taken medications and supplements (including dosage and time of administration)
- Recent blood test results (CBC, platelets, Hb/Hct, white blood cell count, liver and kidney tests, etc.)
- Copies of previous diagnoses and test results (bone marrow examination, genetic test results such as JAK2/CALR/MPL and BCR‑ABL, etc.)
- Record of thrombosis or bleeding history (time of occurrence, site, and treatment course)
- Symptom change diary (fatigue, night sweats, weight changes, feeling of fullness in the left upper abdomen, etc.)
- Points to confirm on the day of the outpatient visit
- Recent fever or infection, planned surgery or procedure, and whether you are pregnant or breastfeeding
- Vaccinations (e.g., influenza and pneumococcal vaccines) and infection prevention status
Example questions (for patients to check themselves when making an outpatient appointment)
- Have you recently had symptoms of thrombosis or bleeding?
- Have you missed any doses of medication or started any new medications (e.g., antithrombotic or hormonal drugs)?
4) Examples of General Questions to Ask the Doctor
- What is the expected course of this disease given my age and condition? (Prognosis)
- What is the current target range for my blood cell counts, and what is the treatment plan for reaching the target?
- What are the main side effects of the medication you plan to prescribe, and what needs to be monitored?
- I am planning a pregnancy. Are there any recommendations to stop treatment or switch to an alternative treatment?
- What precautions should I take regarding lifestyle habits (exercise, alcohol consumption, travel, etc.)?
5) Examples of Disease-Specific Questions
- (If you have a history of thrombosis or are at high risk) Is aspirin alone sufficient to lower my risk of thrombosis, or do I need an anticoagulant or cytoreductive agent?
- (For PMF or severe symptoms) Do I meet the indications for a bone marrow transplant, and when should I receive a transplant consultation?
Note: The diagnosis and treatment plan vary depending on the individual's clinical condition, genetic mutations, and comorbidities. Consult your doctor regarding specific prescriptions.