Bernard-Soulier syndrome, type C(BSS)
Also known as: Bernard-Soulier Syndrome Type C · BSS Type C · Giant Platelet Syndrome · GP9-related thrombocytopenia · Thrombozytopathie Typ Bernard-Soulier
Overview
What it is
Bernard-Soulier syndrome, type C is an inherited blood clotting disorder affecting the cardiovascular and hematologic systems. It is caused by a genetic defect in blood platelets, which are the specialized cells responsible for forming clots to stop bleeding. Because these platelets cannot stick together properly, the body's natural wound healing and clotting processes are severely impaired.
How it presents
Owners will typically notice signs of abnormal bleeding from a young age, often starting in puppyhood. This includes spontaneous nosebleeds, bleeding gums, easy bruising, and prolonged bleeding after minor cuts or routine veterinary procedures.
Treatment
There is no cure for this lifelong condition, so management focuses on preventing injuries and avoiding trauma. In emergencies or during necessary surgeries, supportive care such as blood transfusions is required, with lifetime costs typically ranging from 1,000 to 6,000 EUR.
How it's tested
Bernard-Soulier-Syndrom (BSS) DNA-Test(BSS)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im GP9-Gen, um betroffene Hunde sowie symptomfreie Träger des Bernard-Soulier-Syndroms Typ C zuverlässig nachzuweisen.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Bernard-Soulier syndrome, type C?
Bernard-Soulier syndrome, type C is an inherited blood clotting disorder affecting the cardiovascular and hematologic systems. It is caused by a genetic defect in blood platelets, which are the specialized cells responsible for forming clots to stop bleeding. Because these platelets cannot stick together properly, the body's natural wound healing and clotting processes are severely impaired.
How is Bernard-Soulier syndrome, type C tested?
Tests currently in our database: Bernard-Soulier-Syndrom (BSS) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.