Do all Cavaliers have congenital macrothrombocytopenia?
Cavalier King Charles Spaniels (CKCS) have a high prevalence (30 to 50% of dogs in the United States) of a macrothrombocytopenia that is inherited as an autosomal trait.
What is congenital macrothrombocytopenia?
Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases.
What is macrothrombocytopenia?
Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to an injured blood vessel walls, resulting in abnormal bleeding when injured.
What is Episodic Falling Syndrome?
Episodic falling syndrome (EFS) is a well-recognized paroxysmal disorder found in Cavalier King Charles spaniels (CKCS). Episodes begin between fourteen weeks and four years of age and are triggered by exercise, stress, apprehension or excitement (Herrtage and Palmer, 1983).
How is Bernard Soulier syndrome diagnosed?
The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is …
What is the Bernard Soulier syndrome?
General Discussion. Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily.
What is Macroplatelets?
Congenital macrothrombocytopenia is an under diagnosed entity and is seen in a group of largely inherited disorders characterised by large sized platelets seen on the blood smear associated with raised mean platelet volume (MPV) and low to near normal platelet counts.
Should I worry about giant platelets?
This can be very dangerous, and requires immediate medical attention to treat. In severe cases, a blood transfusion may be required. Other conditions that can be indicated by giant platelets include gray platelet syndrome and May-Hegglin anomaly.
What does the presence of large platelets mean?
A high platelet count may be referred to as thrombocytosis. This is usually the result of an existing condition (also called secondary or reactive thrombocytosis), such as: Cancer, most commonly lung cancer, gastrointestinal cancer, ovarian cancer, breast cancer, or lymphoma.
What causes episodic falling in dogs?
Episodic falling syndrome is caused solely by a single mutated recessive gene that is associated with neurological function, the BCAN gene, and is unique to the Cavalier King Charles Spaniel. It is an inherited gene, which means that it is passed down from parents to offspring.
What is curly coat syndrome?
A congenital condition in the CKCS that affects the skin, eyes and nails is the syndrome known as congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), or more commonly referred to as “dry eye curly coat syndrome”.
What does the presence of giant platelets mean?
“Giant platelet” is a term used to describe platelets that are abnormally large, i.e., as large as a normal red blood cell. These may be seen in certain disorders such as immune thrombocytopenic purpura or in rare inherited disorders such as Bernard-Soulier disease.