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Disease Profile
Paroxysmal nocturnal hemoglobinuria
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
All ages
ICD-10
D59.5
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)
PNH; Marchiafava-Micheli disease
Categories
Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders
Summary
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
0001878 | ||
30%-79% of people have these symptoms | ||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Hypercoagulability | 0100724 | |
Thromboembolism | 0001907 | |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormal bleeding |
Bleeding tendency
|
0001892 |
Abnormal renal physiology |
Abnormal kidney function
Kidney function issue
[ more ] |
0012211 |
Angina pectoris | 0001681 | |
Aplastic |
0001915 | |
Cerebral artery stenosis |
Narrowing of a cerebral artery
|
0012492 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hemoglobinuria |
Hemoglobin in urine
|
0003641 |
Hypoplastic anemia | 0001908 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Myelodysplasia | 0002863 | |
Myocardial infarction |
Heart attack
|
0001658 |
Pallor | 0000980 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Transient ischemic attack |
Mini stroke
|
0002326 |
1%-4% of people have these symptoms | ||
Acute myeloid leukemia | 0004808 | |
Percent of people who have these symptoms is not available through HPO | ||
Arthralgia |
Joint pain
|
0002829 |
0000006 | ||
Diarrhea |
Watery stool
|
0002014 |
Dyspnea |
Trouble breathing
|
0002094 |
Headache |
Headaches
|
0002315 |
Paroxysmal nocturnal hemoglobinuria | 0004818 | |
0001428 | ||
Urticaria |
Hives
|
0001025 |
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
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
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.
- Eculizumab(Brand name: Soliris) Manufactured by Alexion Pharmaceuticals, Inc.
FDA-approved indication: March 2007, eculizumab (Soliris) was approved for the treatment of paroxysmal nocturnal hemoglobinuria to reduce hemolysis.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Ravulizumab-cwvz(Brand name: Ultomiris) Manufactured by Alexion Pharmaceuticals, Inc.
FDA-approved indication: December 2018, ravulizumab-cwvz (Ultomiris) was approved for the treatment of adult patients with paroxysmal nocturnal hemoglobinuria (PNH).
National Library of Medicine Drug Information Portal
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 diagnoses include all the other forms of anemia (in particular autoimmune hemolytic anemia) and other causes of deep vein thromboses, according to their clinical presentation.
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
-
Aplastic Anemia and MDS International Foundation
4330 East-West Highway, Suite 230
Bethesda, MD 20814
Toll-free: 1-800-747-2820 Option 2 (Helpline)
Telephone: +1-301-279-7202
Fax: +1-301-279-7205
E-mail: [email protected]
Website: https://www.aamds.org -
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: [email protected]
Website: https://www.enerca.org
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Paroxysmal nocturnal hemoglobinuria. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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.
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 2 - 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 Paroxysmal nocturnal hemoglobinuria. Click on the link to view a sample search on this topic.
References
- Paroxysmal nocturnal hemoglobinuria. Genetics Home Reference. May 2007; https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria. Accessed 1/15/2011.
- Emmanuel C Besa and Ulrich Woermann. Paroxysmal Nocturnal Hemoglobinuria. eMedicine. March 27, 2009; https://emedicine.medscape.com/article/207468-overview. Accessed 1/15/2011.