Bleeding disorder due to P2RY12 defect

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Other Names:

ADP platelet receptor P2Y12 defect; P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect; ADP platelet receptor P2Y12 defect; P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect; Bleeding disorder due to P2Y12 defect; Bleeding disorder, platelet-type 8; Bleeding disorder due to P2RX1 defect, somatic See More

Categories:

Blood Diseases; Congenital and Genetic Diseases

Summary Summary

Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is very rare and it's not clear how it changes over time. Bleeding disorder due to a P2RY12 defect occur due to a variant in the P2RY12 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of specialized laboratory testing. Treatment is focused on managing the symptoms, and may involve blood transfusions, and/or medications that help the blood clot.^[1]^[2]^[3]^[4]^[5]

Last updated: 11/13/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with bleeding disorder due to P2RY12 defect. These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of bleeding disorder due to P2RY12 defect may include:^[2]^[3]

Frequent nosebleeds (epistaxis)
Easy bruising
Excess bleeding after surgery or an accident

Excessive bleeding in this condition can begin at any time, and continues throughout life. Women with bleeding disorder due to P2RY12 defect may have very heavy periods. Very few people with a bleeding disorder due to P2RY12 defect have been reported. How or if the symptoms of this condition change over time is not known.

Last updated: 11/13/2020

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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Ecchymosis		0031364
Epistaxis	Bloody nose Frequent nosebleeds Nose bleed Nose bleeding Nosebleed [ more ]	0000421
Impaired ADP-induced platelet aggregation		0004866
Persistent bleeding after trauma	Excessive bleeding after minor trauma Frequent bleeding with trauma Prolonged bleeding after minor trauma [ more ]	0001934
Prolonged bleeding after surgery	Excessive bleeding during surgery Protracted bleeding after surgery [ more ]	0004846

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Last updated: 1/1/2021

Cause Cause

Bleeding disorder due to P2RY12 defect occurs when the P2RY12 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[2]^[3]

Last updated: 11/13/2020

Inheritance Inheritance

Bleeding disorder due to P2RY12 defect is inherited in an autosomal recessive pattern.^[2]^[3] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.

People with autosomal recessive conditions inherit one variant from each of their parents. The parents, who each have one gene variant, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 11/13/2020

Diagnosis Diagnosis

Bleeding disorder due to P2RY12 defect is diagnosed based on the symptoms, clinical exam, and special lab tests that measure how platelets work under specific circumstances.^[2]^[3]^[5] The results of genetic testing may be helpful for diagnosis as well.

Last updated: 11/13/2020

Treatment Treatment

Treatment of bleeding disorder due to P2RY12 defect is focused on managing the symptoms. Treatment may include compression, blood transfusions, or medications to help manage the excessive bleeding.^[1]

Last updated: 11/13/2020

Statistics Statistics

It is unclear how many people have bleeding disorder due to P2RY12 defect. There have been about twenty cases reported in the medical literature.^[3]

Last updated: 11/13/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

In-Depth Information

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.

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References References

Dupuis A, Gachet C. Inherited platelet disorders : Management of the bleeding risk. Transfus Clin Biol. Sep 2018; 25(3):228-235. https://pubmed.ncbi.nlm.nih.gov/30077511/.
Lecchi A, Razzari C, Paoletta S, Dupuis A, Nakamura L, Ohlmann P, et al. Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. Blood. Feb 5, 2015; 125(6):1006-1013. https://pubmed.ncbi.nlm.nih.gov/25428217/.
Lecchi A, Femia EA,Paoletta S, Dupuis A, Ohlmann P, Gachet C, Jacobson KA, Machura K, Podda GM, Zieger B, Cattaneo M. Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders. Hamostaseologie. Nov 7, 2016; 36(4):279-283. https://pubmed.ncbi.nlm.nih.gov/27487748/.
Remijn JA, IJsseldijk MJ, Strunk AL, Abbes AP, Engel H, Dikkeschei B, Dompeling EC, de Groot PG, Slingerland RJ. Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis. Clin Chem Lab Med. 2007; 45(2):187-9. https://pubmed.ncbi.nlm.nih.gov/17311506/.
Cattaneo M. The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects.. Blood. Feb 5, 2011; 117(7):2102-12. https://pubmed.ncbi.nlm.nih.gov/20966167/.