Rare Gastroenterology News
Advertisement
Disease Profile
Primary myelofibrosis
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
Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Enlarged liver and spleen
|
0001433 | |
Pallor | 0000980 | |
Splenomegaly |
Increased spleen size
|
0001744 |
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 |
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 |
0004377 | |
Increased lactate dehydrogenase level | 0025435 | |
Percent of people who have these symptoms is not available through HPO | ||
Fever | 0001945 | |
Myelofibrosis | 0011974 | |
0005547 | ||
Purpura |
Red or purple spots on the skin
|
0000979 |
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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis of PMF includes other closely related myeloid neoplasms, such as chronic myeloid leukemia, essential thrombocythemia, polycythemia vera, myelodysplastic syndromes, chronic myelomonocytic leukemia, acute panmyelosis with myelofibrosis and acute megakaryoblastic leukemia.
Visit the Orphanet disease page for more 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
-
Leukemia and Lymphoma Society
3 International Drive, Suite 200
Rye Brook, NY 10573
Toll-free: 1-(800) 955-4572 (patients and families)
Telephone: 1-(888) 557-7177 (general)
E-mail: https://www.lls.org/content/contact-us
Website: https://www.lls.org/ -
MPN Research Foundation
180 N. Michigan Avenue
Suite 1870
Chicago, IL 60601
Toll-free: +1-855-258-1943 (Support)
Telephone: +1-312-683-7249
Fax: +1-312-332-0840
E-mail: [email protected]
Website: https://www.mpnresearchfoundation.org/
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
- Chen YB. Myelofibrosis. MedlinePlus. May 29, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000531.htm.
- Primary myelofibrosis. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/primary-myelofibrosis.
- Myelofibrosis. MayoClinic.com. August 1, 2014; https://www.mayoclinic.org/diseases-conditions/myelofibrosis/symptoms-causes/syc-20355057.
- Hoffman R, Ravandi-Kashani F. Chapter 70 Idiopathic Myelofibrosis. Hematology: Basic Principles and Practice, 4th edition. Philadelphia, PA: Elsevier; 2005;
- Tefferi, A. Chapter 177 Myeloproliferative Disorders: Essential Thrombocytopenia and Primary Myelofibrosis. Cecil Medicine, 23rd edition. Philadelphia, PA: Elsevier; 2007;
- Tefferi A. Chapter 106Myeloproliferative Disorders. Abeloff's Clinical Oncology, 4th edition. Philadelphia, PA: Elsevier; 2008;
- 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.
- 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.