Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large

platelet Platelets or thrombocytes () are a part of blood whose function (along with the coagulation#Coagulation factors, coagulation factors) is to react to bleeding from blood vessel injury by clumping to form a thrombus, blood clot. Platelets have no ...

thrombocytopenia In hematology, thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coag ...

and a tendency to bleeding. Giant platelets cannot stick adequately to injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like Bernard–Soulier syndrome,

gray platelet syndrome Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in ...

and May–Hegglin anomaly.

Signs and symptoms

Symptoms usually present from the period of birth to early childhood as: nose bleeds, bruising, and/or gum bleeding. Problems later in life may arise from anything that can cause internal bleeding such as: stomach ulcers, surgery, trauma, or menstruation. Abnormality of the abdomen, nosebleeds,

heavy menstrual bleeding Heavy menstrual bleeding (HMB), previously known as menorrhagia or hematomunia, is a menstruation, menstrual period with excessively heavy flow. It is a type of abnormal uterine bleeding (AUB). Abnormal uterine bleeding can be caused by stru ...

, purpura, too few platelets circulating in the blood, and prolonged bleeding time have also been listed as symptoms of various giant platelet disorders.

Genetics

Many of the further classifications of giant platelet disorder occur as a result of being genetically passed down through families as an autosomal recessive disorder, such as in Bernard-Soulier syndrome and gray platelet syndrome.

Diagnosis

People may be diagnosed after prolonged and/or recurring bleeding episodes. Children and adults may also be diagnosed after profuse bleeding after a trauma or tooth extraction. Ultimately, a laboratory diagnosis is usually required. This would utilize platelet aggregation studies and flow cytometry.

Classification

Giant platelet disorders can be further categorized: * caused by auto-immune disorders, for example Immune thrombocytopenic purpura (ITP), and characterized by low platelet count, but high MPV (mean platelet volume). * Caused by

glycoprotein Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known a ...

abnormalities: Bernard–Soulier syndrome, velocardiofacial syndrome * Caused by calpain defect: Montreal platelet syndrome * Caused by alpha granules defect:

* Characterized by abnormal neutrophil inclusions: May–Hegglin anomaly, Sebastian syndrome * With systemic manifestations: Hereditary macrothrombocytopenia with hearing loss, Epstein syndrome, Fechtner syndrome * With no specific abnormalities: Mediterranean macrothrombocytopenia * Harris platelet syndrome

Treatment

There has been no general recommendation for treatment of patients with giant platelet disorders, as there are many different specific classifications to further categorize this disorder which each need differing treatments. Platelet transfusion is the main treatment for people presenting with bleeding symptoms. There have been experiments with DDAVP (1-deamino-8-arginine vasopressin) and splenectomy on people with giant platelet disorders with mixed results, making this type of treatment contentious.

References

External links

{{Medical resources , DiseasesDB = , ICD10 = {{ICD10, D, 69, 1, } , ICD9 = , ICDO = , OMIM = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = Rare diseases Syndromes affecting blood Coagulopathies