Myelofibrosis – Symptoms and Causes
What is Myelofibrosis?
Myelofibrosis is a rare bone marrow cancer. It belongs to a group of diseases called myeloproliferative disorders. It causes scarring in the bone marrow, which disrupts normal blood cell production.
This scarring leads to several health problems, including severe anemia that causes weakness and fatigue.
There are two main types of myelofibrosis: primary and secondary. Primary myelofibrosis occurs on its own, while secondary myelofibrosis develops from another existing bone marrow disorder.
People with myelofibrosis often experience low blood platelet counts, which increase bleeding risk. They also have an enlarged spleen, and they may feel extreme tiredness and weakness.
Myelofibrosis is considered a type of chronic leukemia. This means it affects the blood-forming tissues in the body.
Not everyone with myelofibrosis has symptoms right away. Some people may not need immediate treatment, while others with more severe forms require prompt medical attention. Treatment options focus on symptom relief rather than curing the disease completely.
Signs and Illness Markers
Myelofibrosis often develops at a slow pace. Many people don’t notice any signs in the early stages.
As the disease progresses and affects normal blood cell production, you may experience:
- Tiredness, weakness, or breathing problems (usually from anemia)
- Pain or fullness below the left ribs from an enlarged spleen
- Bruising easily
- Bleeding more than normal
- Heavy sweating during sleep
- Fever
- Pain in bones
When Medical Help Is Needed
Contact your healthcare provider if you notice any ongoing symptoms that concern you. Don’t ignore persistent signs, as early detection can lead to better management of the condition.
Causes
Myelofibrosis begins when DNA mutations occur in bone marrow stem cells. These stem cells are special because they can divide into different blood cell types—red blood cells, white blood cells, and platelets.
Scientists haven’t pinpointed exactly why these genetic mutations happen. When stem cells with mutations reproduce, they pass these changes to new cells. As more abnormal cells develop, they disrupt normal blood production.
This disruption typically leads to too few red blood cells, which causes anemia. It also leads to too many white blood cells and irregular platelet levels.
The bone marrow, normally soft and spongy, becomes scarred in people with this condition.
Researchers have identified several genetic mutations linked to myelofibrosis:
| Mutation | Frequency |
|---|---|
| JAK2 | Most common |
| CALR | Less common |
| MPL | Less common |
Some patients don’t have any known gene mutations.
Genetic testing plays an important role in managing myelofibrosis. When doctors know which mutations are present, they can better predict how the disease might progress and which treatments might work best.
Risk Factors
Several factors may increase your chances of developing myelofibrosis:
- Age: People over 50 are more likely to be diagnosed with this condition, though it can affect anyone.
- Existing Blood Disorders: Myelofibrosis sometimes develops as a complication of other blood conditions like essential thrombocythemia or polycythemia vera.
- Chemical Exposure: Contact with industrial chemicals, particularly toluene and benzene, has been linked to a higher risk.
- Radiation Exposure: Individuals who have been exposed to very high radiation levels face an increased risk of developing myelofibrosis.
In many cases, doctors cannot identify a specific cause for myelofibrosis, even when these risk factors are present.
Complications
Myelofibrosis can lead to several serious health issues as the disease progresses:
Liver Blood Flow Problems
When the spleen enlarges, it can cause high blood pressure in the portal vein (portal hypertension). This vein normally carries blood from the spleen to the liver.
The increased pressure may force blood into smaller veins in the stomach and esophagus, which can rupture and bleed.
Pain Issues
A significantly enlarged spleen often causes discomfort in the abdomen and back. This pain can affect daily activities and quality of life.
Blood Cell Formation Outside Bone Marrow
The body may start making blood cells in places outside the bone marrow (extramedullary hematopoiesis). This can create tumor-like growths that cause problems such as: bleeding in the digestive system, coughing up blood, spinal cord compression, and seizures.
Bleeding Risks
As myelofibrosis advances, platelet counts typically drop below normal levels (thrombocytopenia), and the platelets don’t work properly. This makes bleeding more likely and creates risks for any surgical procedures.
Leukemia Development
Some people with myelofibrosis eventually develop acute myelogenous leukemia. This is a fast-progressing blood and bone marrow cancer that requires prompt treatment.
