Overview
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, sometimes called cPLA2α deficiency, is a very rare inherited condition that affects how the body controls bleeding. It is caused by changes (mutations) in the PLA2G4A gene, which provides instructions for making an enzyme called cytosolic phospholipase-A2 alpha. This enzyme plays an important role in platelets — the tiny blood cells that help form clots to stop bleeding. When this enzyme does not work properly, platelets cannot function as they should, leading to problems with normal blood clotting. People with this condition tend to bleed more easily and for longer than usual. Common problems include easy bruising, prolonged bleeding from cuts or injuries, heavy menstrual periods in women, and bleeding after surgery or dental procedures. The condition is classified under platelet function disorders, meaning the number of platelets in the blood is usually normal, but the platelets do not work correctly. Treatment is mainly focused on managing bleeding episodes and preventing excessive blood loss during procedures. There is currently no cure. Doctors may use medications that help promote clotting, such as desmopressin (DDAVP) or antifibrinolytic drugs like tranexamic acid, and platelet transfusions may be needed in serious situations. Because this condition is extremely rare, most care is managed by hematologists with experience in platelet disorders.
Also known as:
Key symptoms:
Easy or unexplained bruisingProlonged bleeding from cuts or woundsHeavy or unusually long menstrual periodsBleeding that is hard to stop after surgery or dental workNosebleeds that last a long timeBleeding into the skin (small red or purple spots called petechiae)Gastrointestinal bleeding in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder.
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Specialists
View all specialists →No specialists are currently listed for Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific platelet function tests do I need, and how often should they be repeated?,Do I need a written bleeding management plan for emergencies and surgical procedures?,Which medications are safe for me to take, and which ones (like aspirin or ibuprofen) should I avoid?,Should my family members be tested for this condition?,What should I do before a dental procedure or surgery to reduce my bleeding risk?,Are there any clinical trials or research studies I could participate in?,How should I manage heavy menstrual bleeding, and what options are available?
Common questions about Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
What is Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder?
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, sometimes called cPLA2α deficiency, is a very rare inherited condition that affects how the body controls bleeding. It is caused by changes (mutations) in the PLA2G4A gene, which provides instructions for making an enzyme called cytosolic phospholipase-A2 alpha. This enzyme plays an important role in platelets — the tiny blood cells that help form clots to stop bleeding. When this enzyme does not work properly, platelets cannot function as they should, leading to problems with normal blood clotting. People with this con
How is Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder inherited?
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.