Myelofibrosis (MF) is a rare and serious type of bone marrow disorder that belongs to a group of diseases called myeloproliferative neoplasms (MPNs). It occurs when abnormal stem cells in the bone marrow produce excessive fibrous (scar) tissue, which disrupts normal blood cell production. This leads to anemia, an enlarged spleen (splenomegaly), and other complications.
Myelofibrosis develops due to genetic mutations in bone marrow stem cells, most commonly involving the JAK2, CALR, or MPL genes. These mutations cause uncontrolled production of abnormal blood cells and scarring of the bone marrow, leading to progressively worsening symptoms. The disease may develop on its own (primary myelofibrosis) or as a complication of other bone marrow disorders like polycythemia vera (PV) or essential thrombocythemia (ET).
Rare but serious – Myelofibrosis is a life-threatening condition that affects normal blood cell production.
Progressive disease – Symptoms worsen over time as bone marrow function declines.
Linked to genetic mutations – JAK2, CALR, and MPL mutations are the most common genetic changes in myelofibrosis.
Can transform into leukemia – Some cases progress to acute myeloid leukemia (AML), a more aggressive form of blood cancer.
The exact cause of myelofibrosis is unknown, but genetic mutations and other factors contribute to its development.
Genetic Mutations – JAK2, CALR, and MPL mutations drive abnormal blood cell production.
Age – Most common in people over 50, but it can occur at any age.
Other Blood Disorders – Conditions like polycythemia vera or essential thrombocythemia may lead to myelofibrosis.
Exposure to Chemicals & Radiation – Exposure to toxins like benzene and radiation therapy increases the risk.
Family History – A rare familial form of myelofibrosis has been reported.
Myelofibrosis symptoms develop gradually and worsen as the disease progresses.
Fatigue and Weakness – Due to low red blood cell levels (anemia).
Enlarged Spleen (Splenomegaly) – Causes pain or fullness in the left upper abdomen.
Abnormal Bleeding & Bruising – Low platelet counts lead to increased bleeding risk.
Frequent Infections – Due to impaired immune function.
Unintentional Weight Loss – Associated with disease progression.
Bone Pain – Caused by bone marrow scarring.
Night Sweats and Fever – Signs of systemic inflammation.
Myelofibrosis can be categorized based on its origin:
Primary Myelofibrosis (PMF) – Develops without any prior blood disorders.
Secondary Myelofibrosis – Progresses from polycythemia vera or essential thrombocythemia.
Myelofibrosis is diagnosed using blood tests, imaging, and bone marrow biopsy.
Complete Blood Count (CBC) – Shows anemia, abnormal white blood cells, and low platelet levels.
Peripheral Blood Smear – Detects teardrop-shaped red blood cells, a hallmark of myelofibrosis.
Bone Marrow Biopsy – Confirms fibrosis and abnormal blood cell production.
Genetic Testing – Identifies JAK2, CALR, or MPL mutations to guide treatment decisions.
Imaging (Ultrasound, MRI, CT Scan) – Checks spleen and liver size.
Treatment depends on disease severity, symptoms, and overall health. There is no cure except for a stem cell transplant.
JAK Inhibitors (Ruxolitinib, Fedratinib) – Reduce spleen size and relieve symptoms.
Anemia Treatment – Includes erythropoietin-stimulating agents or blood transfusions.
Hydroxyurea – Lowers excessive blood cell production.
Corticosteroids – Manage anemia and inflammation.
The only potential cure for myelofibrosis.
High-risk procedure with serious complications.
Best suited for younger patients with a donor match.
Blood transfusions for severe anemia.
Pain management for bone and spleen pain.
Lifestyle adjustments, including a healthy diet and exercise.
The prognosis for myelofibrosis varies based on age, symptoms, and genetic mutations.
Low-risk patients – Median survival of 10+ years.
Intermediate-risk patients – Median survival of 4-7 years.
High-risk patients – Median survival of 2-3 years.
The Dynamic International Prognostic Scoring System (DIPSS) is used to assess survival risk.
There is no known way to prevent myelofibrosis, but reducing risk factors may help.
Avoid Chemical Exposure – Limit exposure to benzene and toxins.
Healthy Lifestyle – A balanced diet and regular exercise support immune health.
Early Detection – Regular blood tests for individuals with risk factors.
Managing myelofibrosis requires medical care, lifestyle changes, and emotional support.
Regular Check-ups – Monitoring blood counts and organ function.
Balanced Diet – Nutrient-rich foods support blood health.
Avoiding Infections – Proper hygiene and vaccinations.
Exercise – Light activities improve energy and well-being.
Emotional Support – Counseling and support groups help cope with the disease.