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What is Idiopathic Myelofibrosis?

By J.M. Willhite
Updated: May 17, 2024
Views: 6,778
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Idiopathic myelofibrosis is a serious medical condition that adversely affects bone marrow formation. Individuals with this condition often experience a variety of symptoms that compromise their immune system, respiratory system and organ function. Often developing in late adulthood, treatment for idiopathic myelofibrosis is dependent on symptom presentation and severity. Complications associated with this condition may include liver failure and leukemia.

The manifestation of idiopathic myelofibrosis presents with the development of scar tissue in place of bone marrow due to an acquired hematopoietic stem cell mutation. Red blood cell production normally takes place within the bone marrow during a process known as hematopoiesis. In the presence of this type of mutation, as occurs within the hematopoietic stem cells, blood cell production becomes unbalanced and scar tissue develops as a reaction to the disruption of proper bone marrow function. Though there is no known, single cause for the development of this kind of hematopoietic stem cell mutation, it has been suggested that exposure to certain environmental toxins, such as benzene, may contribute to symptom onset.

Myelofibrosis is generally detected during the administration of bloodwork, such as a complete blood and platelet count. A blood draw is generally utilized to evaluate the condition and the numbers of red and white blood cell levels, hemoglobin levels, and the number of blood platelets. In the presence of abdominal distention, additional imaging testing may be performed to evaluate the condition and functionality of the liver. A diagnosis of idiopathic myelofibrosis is generally confirmed with the administration of a bone marrow biopsy.

As an acquired condition, idiopathic myelofibrosis generally takes years to develop before symptoms manifest. Presenting in the later years of adulthood, generally in those 50 years of age and older, idiopathic myelofibrosis can induce a variety of signs and symptoms that appear and progress gradually. Frequently, individuals may notice that they start to bruise more easily and may feel fatigued with little to no exertion. It is not uncommon for people with this condition to experience shortness of breath that occurs without an obvious trigger, bone discomfort, and night sweats.

Individuals who receive a diagnosis of idiopathic myelofibrosis may develop a variety of complications depending on the severity and progression of their condition. Due to the effect idiopathic myelofibrosis has on the immune system and waste production, some may develop an increased susceptibility to infection or secondary conditions, such as gout or tumors. Additional complications may include acute leukemia, joint inflammation, vein rupture, and portal hypertension which may impair proper liver function.

Asymptomatic individuals, meaning those who are not experiencing any symptoms, often do not receive treatment until the disease progresses and symptoms start to manifest. Most symptomatic individuals receive treatment based on the type and severity of their symptoms. Those who develop anemia may receive periodic blood transfusions or drug therapy to increase their blood and platelet counts. In the presence of certain complications, such as spleen enlargement, drug therapies may be administered or surgery performed to remove the inflamed organ to prevent further complications.

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