Rare Gastroenterology News

Disease Profile

Primary myelofibrosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

D47.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Idiopathic myelofibrosis; Myeloid metaplasia; Agnogenic myeloid metaplasia

Categories

Blood Diseases; Rare Cancers

Summary

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the spongy tissue tissue inside the bone (bone marrow), the tissue that contains the stem cells that will produce blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. In myelofibrosis, the bone marrow is replaced by fibrous (scar) tissue.[1][2] When the bone marrow is scarred, it cannot make enough blood cells. This leads to anemia, weakness, fatigue, and often, swelling of the liver and spleen.[1][3] The disorder occurs when blood stem cells develop somatic mutations in the JAK2, MPL, CALR, and TET2 genes. Other genes may also be involved. The disorder is generally not inherited because this type of mutation does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic).[2] Although myelofibrosis can occur at any age, it typically develops after the age of 50 years.[1][3] In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy, and surgery.[3] Bone marrow or stem cell transplant may improve symptoms, and may cure the disease.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal megakaryocyte morphology
0012143
Anemia
Low number of red blood cells or hemoglobin
0001903
Fatigue
Tired
Tiredness

[ more ]

0012378
Hepatomegaly
Enlarged liver
0002240
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Pallor
0000980
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
5%-29% of people have these symptoms
Anorexia
0002039
Arterial thrombosis
Blood clot in artery
0004420
Bone marrow hypercellularity
0031020
Easy fatigability
0003388
Ecchymosis
0031364
Extramedullary hematopoiesis
0001978
Flank pain
0030157
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Low-grade fever
Mild fever
0011134
Lymphadenopathy
Swollen lymph nodes
0002716
Pancytopenia
Low blood cell count
0001876
Petechiae
0000967
Poikilocytosis
0004447
Portal hypertension
0001409
Thrombocytosis
Increased number of platelets in blood
0001894
Venous thrombosis
Blood clot in vein
0004936
1%-4% of people have these symptoms
Cachexia
Wasting syndrome
0004326
Hemangioma
Strawberry mark
0001028
Hematological neoplasm
0004377
Increased lactate dehydrogenase level
0025435
Percent of people who have these symptoms is not available through HPO
Fever
0001945
Myelofibrosis
0011974
Myeloproliferative disorder
0005547
Purpura
Red or purple spots on the skin
0000979
Somatic mutation
0001428

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

    Management Guidelines

    • The NORD Physician Guide for Primary myelofibrosis was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

      FDA-Approved Treatments

      The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

      • Ruxolitinib Phosphate(Brand name: Jakafi) Manufactured by Incyte Corporation
        FDA-approved indication: Treatment of patients with intermediate or high-risk myelofibrosis, including primary myelofibrosis, post-polycythemia vera myelofibrosis and post-essential thrombocythemia myelofibrosis. Treatment of patients with polycythemia vera who have had an inadequate response to or are intolerant of hydroxyurea.
        National Library of Medicine Drug Information Portal
        Medline Plus Health Information

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Social Networking Websites

        • MPD-Support: Myeloproliferative Diseases Support and Daily E-mail Digest

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

          • MayoClinic.com offers additional information about myelofibrosis. Click on the above link to access this information.
          • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
          • MedlinePlus Genetics contains information on Primary myelofibrosis. This website is maintained by the National Library of Medicine.
          • The MPN Education Foundation provides information on Primary myelofibrosis.
          • The Leukemia & Lymphoma Society has an article on idiopathic myelofibrosis. Click on Leukemia & Lymphoma Society to view the article.
          • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

            In-Depth Information

            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary myelofibrosis. Click on the link to view a sample search on this topic.

              References

              1. Chen YB. Myelofibrosis. MedlinePlus. May 29, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000531.htm.
              2. Primary myelofibrosis. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/primary-myelofibrosis.
              3. Myelofibrosis. MayoClinic.com. August 1, 2014; https://www.mayoclinic.org/diseases-conditions/myelofibrosis/symptoms-causes/syc-20355057.
              4. Hoffman R, Ravandi-Kashani F. Chapter 70 Idiopathic Myelofibrosis. Hematology: Basic Principles and Practice, 4th edition. Philadelphia, PA: Elsevier; 2005;
              5. Tefferi, A. Chapter 177 Myeloproliferative Disorders: Essential Thrombocytopenia and Primary Myelofibrosis. Cecil Medicine, 23rd edition. Philadelphia, PA: Elsevier; 2007;
              6. Tefferi A. Chapter 106Myeloproliferative Disorders. Abeloff's Clinical Oncology, 4th edition. Philadelphia, PA: Elsevier; 2008;
              7. Mehta J, Wang H, Iqbal SU, Mesa R.. Epidemiology of myeloproliferative neoplasms in the United States. Leuk. Lymphoma. March 1, 2014; 55(3):595-600. https://www.ncbi.nlm.nih.gov/pubmed/23768070.
              8. Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA.. Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union. Eur. J. Haematol.. April 1, 2014; 92(4):289-297. https://www.ncbi.nlm.nih.gov/pubmed/24372927.