Myelofibrosis: Symptoms, Causes, Treatment
التليّف النقوي
Myelofibrosis is a marrow disorder in which abnormal blood-forming cells and scarring impair blood production, sometimes causing anemia and an enlarged spleen.
What is Myelofibrosis?
It can arise primarily or follow polycythemia vera or essential thrombocythemia. Severity varies: some people need observation, while others need symptom control or risk-directed treatment.
Related reading: Essential thrombocythemia and marrow changes.
Symptoms
Fatigue, breathlessness, early fullness after meals, left upper abdominal discomfort, night sweats or weight loss may develop. Bruising can occur; early disease may be symptomless.
Causes
Acquired changes in blood-forming cells, including JAK2, CALR or MPL mutations, disrupt growth signaling. Marrow scarring alone does not establish this particular disease.
Risk factors
Older age and an earlier myeloproliferative neoplasm increase risk. Prognosis considers symptoms, counts, mutations and changes over time as well as age.
Diagnosis
Assessment combines blood counts and film, marrow biopsy, genetic testing and spleen evaluation. Findings establish the diagnosis, risk category and treatment priorities.
Treatment
Options include monitoring, anemia treatment, transfusions and targeted medicines such as JAK inhibitors. Donor stem cell transplantation can offer potential cure for selected patients but carries substantial risks.
Complications
Severe anemia, infections, bleeding and painful spleen enlargement may occur; progression to acute leukemia is possible. A single symptom cannot predict an individual outcome.
Prevention
There is no proven prevention. Keep follow-up and appropriate vaccination plans, and discuss infection, bleeding, nutrition and activity. Never stop targeted treatment without hematology advice.
When to see a doctor
Increasing fatigue or unexplained weight loss needs review. Fever during immune-suppressing treatment, heavy bleeding, severe breathlessness or sudden abdominal pain needs urgent assessment.