Definition
Primary myelofibrosis is characterized by the buildup of scar tissue (fibrosis) in the spongy tissue tissue inside the bone (bone marrow). The spongy tissue inside bone contains the stem cells that will produce blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. This may lead to anemia, weakness, fatigue, and often, swelling of the liver and spleen. The disorder occurs when blood stem cells develop somatic genetic changes in the JAK2, MPL, CALR, and TET2 genes. Other genes may also be involved. The disorder is generally not inherited because this type of genetic change does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic).
Black patients with primary myelofibrosis (PMF) are diagnosed at an earlier age and experienced shorter survival compared with white patients, according to an analysis of the Surveillance, Epidemiology, and End Results (SEER) database.
Symptoms
Symptoms of this disease may start to appear as an Adult.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your healthcare team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
- Abnormal bleeding. An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
- Abnormal megakaryocyte morphology. Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.
- Abnormal thrombosis. Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
- Abnormality of blood and blood-forming tissues. An abnormality of the hematopoietic system.
- Abnormality of bone marrow cell morphology. An anomaly of the form or number of cells in the bone marrow.
- Anemia. A reduction in erythrocytes volume or hemoglobin concentration.
- Anorexia. A lack or loss of appetite for food (as a medical condition).
- Arterial thrombosis. The formation of a blood clot inside an artery.
- Bone marrow hypercellularity. A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
- Cachexia. Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
- Constitutional symptom. A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
- Easy fatigability. Increased susceptibility to fatigue.
- Ecchymosis. A purpuric lesion that is larger than 1 cm in diameter.
- Extramedullary hematopoiesis. The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
- Fatigue. A subjective feeling of tiredness characterized by a lack of energy and motivation.
- Flank pain. An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.
- Hemangioma. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
- Hematological neoplasm. Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
- Hepatomegaly. Abnormally increased size of the liver.
- Hepatosplenomegaly. Simultaneous enlargement of the liver and spleen.
- Leukocytosis. An abnormal increase in the number of leukocytes in the blood.
- Lymphadenopathy. Enlargment (swelling) of a lymph node.
- Pallor. Abnormally pale skin.
- Pancytopenia. An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
- Petechiae. Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
- Poikilocytosis. The presence of abnormally shaped erythrocytes.
- Portal hypertension. Increased pressure in the portal vein.
- Purpura. Purpura (from Latin: purpura, meaning “purple”) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
- Splenomegaly. Abnormal increased size of the spleen.
- Thrombocytopenia. A reduction in the number of circulating thrombocytes.
- Thrombocytosis. Increased numbers of platelets in the peripheral blood.
- Venous thrombosis. Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
This information comes from the Human Phenotype Ontology (HPO)
Diagnosis
For a person with a rare disease, receiving an accurate diagnosis may take several years. Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.
How can a diagnostic team help?
Building a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. Understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner.
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Primary myelofibrosis:
