Primary myelofibrosis

Primary myelofibrosis
Synonyms	Chronic idiopathic myelofibrosis, agnogenic myeloid metaplasia
Pronounce	N/A
Specialty	N/A
Symptoms	Fatigue, splenomegaly, anemia, night sweats, fever, weight loss
Complications	Acute myeloid leukemia, portal hypertension, thrombosis
Onset	Typically in adults over 50
Duration	Chronic
Types	N/A
Causes	JAK2 mutation, CALR mutation, MPL mutation
Risks	Age, genetic predisposition
Diagnosis	Bone marrow biopsy, complete blood count, genetic testing
Differential diagnosis	Polycythemia vera, essential thrombocythemia, chronic myeloid leukemia
Prevention	N/A
Treatment	JAK inhibitors, hydroxyurea, blood transfusion, stem cell transplantation
Medication	N/A
Prognosis	Variable, depends on risk factors
Frequency	Rare
Deaths	N/A

Primary myelofibrosis (PMF) is a rare type of bone marrow cancer that disrupts the body's normal production of blood cells. It is classified as a myeloproliferative neoplasm (MPN), a group of diseases that cause an abnormal increase in the number of blood cells. PMF is characterized by the replacement of bone marrow with fibrous scar tissue, leading to severe anemia, weakness, fatigue, and an enlarged spleen (splenomegaly).

Pathophysiology

The exact cause of primary myelofibrosis is not well understood. However, it is associated with mutations in the JAK2, CALR, and MPL genes. These mutations lead to the abnormal proliferation of hematopoietic stem cells, which results in the overproduction of certain blood cells and the release of cytokines that promote fibrosis in the bone marrow.

Symptoms

Common symptoms of primary myelofibrosis include:

• Severe anemia
• Fatigue
• Weakness
• Splenomegaly
• Hepatomegaly (enlarged liver)
• Easy bruising and bleeding
• Night sweats
• Bone pain

Diagnosis

Diagnosis of primary myelofibrosis typically involves a combination of:

• Complete blood count (CBC)
• Bone marrow biopsy
• Genetic testing for mutations in the JAK2, CALR, and MPL genes
• Imaging studies such as ultrasound or MRI to assess spleen and liver size

Treatment

Treatment options for primary myelofibrosis depend on the severity of the disease and the symptoms. They may include:

• JAK inhibitors (e.g., ruxolitinib)
• Hydroxyurea
• Blood transfusions
• Stem cell transplantation
• Supportive care to manage symptoms

Prognosis

The prognosis for primary myelofibrosis varies widely among patients. Factors influencing prognosis include the patient's age, overall health, and specific genetic mutations. Some patients may live many years with the disease, while others may experience a more rapid progression.

Related Pages

• Myeloproliferative neoplasm
• Anemia
• Bone marrow biopsy
• JAK2
• Splenomegaly
• Stem cell transplantation