Idiopathic Myelofibrosis Symptoms and Treatment

Primary or idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, is a disease of the bone marrow where the marrow develops fibrous tissue and produces abnormal blood cells. Idiopathic myelofibrosis is one of the myeloproliferative disorders. This disorder affects both men and women and is usually diagnosed in individuals between 50 to 70 years old, but may occur at any age. It is estimated to occur in 2 out of every 1,000,000 individuals.

As many as 25% of individuals with idiopathic myelofibrosis have no symptoms. Those who do have symptoms may have:

• An enlarged spleen, which causes discomfort in the upper-left abdomen or pain in the upper-left shoulder
• Weakness, fatigue
• Shortness of breath
• Weight loss
• Night sweats
• Unexplained bleeding

Some more serious forms of idiopathic myelofibrosis may have:

• Tumors made of developing blood cells that may form outside the bone marrow in any tissue in the body
• Slowing of blood flow to the liver, leading to a condition called "portal hypertension"
• Distended veins in the esophagus, known as esophageal varices, which may rupture and bleed.

For those individuals who have no symptoms, idiopathic myelofibrosis may be discovered when a routine medical examination finds an enlarged spleen and abnormal blood test results. These results may show a lower than normal number of red blood cells (causing anemia), a higher than normal number of white blood cells, and an abnormal number of platelets (may be either high or low). Some individuals, however, may show little change in the numbers of blood cells.

When a sample of the individual's blood is examined under a microscope, abnormal blood cells can be seen. Other blood tests may be abnormal as well. To help confirm the diagnosis of idiopathic myelofibrosis, a sample of the bone marrow (biopsy) will be taken and examined under the microscope for the presence of fibrosis.

Individuals who have no symptoms generally are not treated. Blood tests are done on a regular basis to monitor the disorder.

For those who have symptoms, treatment is based on relieving discomfort and reducing the risk of complications. Individuals with anemia may receive iron, folate and/or a blood transfusion. Some may be treated with medications, such as Deltasone (prednisone) or Zometa (zoledronic acid).

Individuals who have high numbers of blood cells may be treated with medications, such as Hydrea (hydroxyurea), Agrylin (anagrelide) or interferon alfa.

Some individuals may need to have the spleen surgically removed (splenectomy), especially if it is causing complications. Other treatments may include radiation therapy or bone marrow (stem cell) transplantation.

On average, individuals with idiopathic myelofibrosis survive for five years after diagnosis. About 20% of individuals with the disorder, though, survive 10 years or more. These figures are increasing over time as new treatments are developed and research improves knowledge of the disorder.