Overview
Autosomal dominant thrombocytopenia with platelet secretion defect is a rare inherited bleeding disorder. In this condition, a person has a lower-than-normal number of platelets (the tiny blood cells that help your blood clot) and the platelets that are present do not work properly. Specifically, the platelets have trouble releasing (secreting) the chemical signals they normally use to form a strong blood clot. Because of this double problem — fewer platelets and poorly functioning ones — people with this condition tend to bruise easily and bleed more than expected from cuts, dental procedures, surgeries, or injuries. Women may experience heavy or prolonged menstrual periods. The severity of bleeding can vary widely, even among members of the same family. Some people have only mild symptoms, while others may have more significant bleeding episodes. Because the condition is inherited in an autosomal dominant pattern, only one copy of the altered gene (inherited from one parent) is enough to cause the disorder. Each child of an affected parent has a 50% chance of inheriting the condition. Treatment is mainly supportive and focused on managing and preventing bleeding episodes. There is currently no cure, but careful medical management can help most people live relatively normal lives.
Key symptoms:
Easy bruisingProlonged bleeding from cuts or woundsHeavy or prolonged menstrual periods in womenExcessive bleeding after surgery or dental workNosebleeds that are hard to stopBleeding gumsSmall red or purple spots on the skin (petechiae)Bleeding into the skin causing larger purple patches (purpura)Prolonged bleeding after childbirthLow platelet count on blood tests
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant thrombocytopenia with platelet secretion defect.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant thrombocytopenia with platelet secretion defect.
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 Autosomal dominant thrombocytopenia with platelet secretion defect.
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is my (or my child's) bleeding risk based on current platelet counts and function tests?,What medications and over-the-counter drugs should I avoid?,What should I do if I have a bleeding episode that won't stop?,Do I need special preparation before dental work or surgery?,Should other family members be tested for this condition?,Are there any activities or sports I should avoid?,How often should I have my platelet count and function monitored?
Common questions about Autosomal dominant thrombocytopenia with platelet secretion defect
What is Autosomal dominant thrombocytopenia with platelet secretion defect?
Autosomal dominant thrombocytopenia with platelet secretion defect is a rare inherited bleeding disorder. In this condition, a person has a lower-than-normal number of platelets (the tiny blood cells that help your blood clot) and the platelets that are present do not work properly. Specifically, the platelets have trouble releasing (secreting) the chemical signals they normally use to form a strong blood clot. Because of this double problem — fewer platelets and poorly functioning ones — people with this condition tend to bruise easily and bleed more than expected from cuts, dental procedures
How is Autosomal dominant thrombocytopenia with platelet secretion defect inherited?
Autosomal dominant thrombocytopenia with platelet secretion defect follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.