Diagnosis Index entries containing back-references to G90.2: Bernard-Horner syndrome G90.2 Claude Bernard-Horner syndrome G90.2 Dystrophy, dystrophia sympathetic (reflex) - see Syndrome, pain, complex regional I cervical G90.2 Horner (-Claude Bernard) G90.2 Syndrome - see also Disease cervical (root) M53.1 ICD-10-CM Diagnosis Code M53.1
The differential diagnosis for Bernard–Soulier syndrome includes both Glanzmann thrombasthenia and pediatric Von Willebrand disease. BSS platelets do not aggregate to ristocetin, and this defect is not corrected by the addition of normal plasma, distinguishing it from von Willebrand disease.
Bartter's syndrome. E26.81 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2019 edition of ICD-10-CM E26.81 became effective on October 1, 2018.
Bernard–Soulier syndrome often presents as a bleeding disorder with symptoms of: Perioperative (and postoperative) bleeding. Bleeding gums. Bruising. Epistaxis (nosebleeds) Abnormal bleeding (from small injuries)
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).
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.
Low to absent response to ristocetin is a reliable indicator for the diagnosis of BSS (rules out vWD). Flow cytometry is used to confirm the diagnosis.
The giant platelets cause comes from a genetic abnormality. The gene responsible for the syndrome has been mapped to the short (p) arm of chromosome 17. If both parents carry the gene for Bernard-Soulier syndrome and transmit that gene to the child, the child will be born with the disorder.
Large platelets have a diameter greater than 4 microns. Giant platelets have a diameter greater than 7 microns (larger than a normal red blood cell). Large platelets can be seen when platelet turnover is increased (as in immune thrombocytopenic purpura).
Management of Bernard-Soulier syndrome Care of patients with Bernard-Soulier syndrome (BSS) is generally supportive. In most cases, no medications are needed. Bleeding episodes may require nonspecific treatment, such as desmopressin acetate (DDAVP) or antifibrinolytic agents.
Glanzmann's thrombasthenia and Bernard-Soulier syndrome are platelet receptor defects that result in abnormal platelet adhesion and/or aggregation.
The large platelets and low platelet count in BSS are seemingly due to the absence of GPIbα and the filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton.
Bernard–Soulier syndrome (BSS) is an autosomal recessive platelet disorder characterized by thrombocytopenia, the presence of giant platelets, and defective ristocetin-induced platelet agglutination.
Acquired platelet dysfunction, which is common, may result from aspirin, other nonsteroidal anti-inflammatory drugs (NSAIDs), or systemic disorders.
General Discussion. Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder usually include abnormal bleeding, which may be severe.