myelofibróza

Myelofibrosis is a type of myeloproliferative neoplasm, a group of blood cancers characterized by the overproduction of one or more types of blood cells in the bone marrow. In myelofibrosis, abnormal cells in the bone marrow produce excessive amounts of scar tissue, also known as fibrosis. This fibrosis disrupts the normal production of blood cells, leading to a range of symptoms.

The exact cause of myelofibrosis is not fully understood, but it is often associated with specific genetic mutations, most commonly involving the JAK2 gene. It can occur as a primary condition (primary myelofibrosis) or develop secondary to other myeloproliferative neoplasms like polycythemia vera or essential thrombocythemia.

Symptoms of myelofibrosis can vary widely. Many individuals may have no symptoms initially and are diagnosed incidentally. When symptoms do occur, they can include fatigue, shortness of breath, weakness, bone pain, enlarged spleen or liver, unintended weight loss, and increased susceptibility to infections. The abnormal bone marrow environment leads to a deficiency of healthy red blood cells (anemia), white blood cells, and platelets.

Diagnosis typically involves a physical examination, blood tests to assess blood cell counts and look for genetic mutations, and a bone marrow biopsy to examine the degree of fibrosis and cellular abnormalities. Treatment strategies aim to manage symptoms, improve blood counts, and slow disease progression. These can include medications to reduce spleen size, manage symptoms, and promote blood cell production. In some cases, a stem cell transplant may be considered as a potentially curative option, though it carries significant risks.