GIANT PLATELET SYNDROME

GIANT PLATELET SYNDROME

Giant platelet syndrome, otherwise known as macrothrombocytopenia, are uncommon blood disorders characterized by abnormal large platelets, low platelet counts, and unusual bruising or bleeding. 

The platelets must stick to wounded blood vessel walls. In this case, giant platelets are too large to adhere correctly, which results in improper clotting. Thus, people who suffer from this disorder will excessively bleed when injured or cut.

Giant platelet syndrome are genetically inherited. Hence, children acquire this from their parents even when their parents are not diagnosed with this disorder. Furthermore, it exists in newborn infants and children who experience nose bleeding, bruising, and gum bleeding.

SYMPTOMS

The symptoms start from childbirth and childhood. These symptoms include:

  • Bruising;
  • Nose bleeding; and 
  • Gum bleeding

Later on, problems can appear from anything that causes internal bleeding, including:

Additional symptoms that contribute to giant platelet syndrome are:

  • Intense menstrual bleeding 
  • Abdomen abnormality
  • Too few platelets circulating in the blood
  • Excessive bleeding time

DIAGNOSIS

People with giant platelet syndrome are diagnosed after prolonged bleeding incidents. For children and adults, it can be diagnosed after excessive bleeding or tooth extractions. In some cases, a laboratory diagnosis is needed. 

Giant platelet syndrome are classified through their causes, such as:

  • Auto-immune disorders such as immune thrombocytopenic purpura characterized by low platelet count and high mean platelet volume
  • Glycoprotein abnormalities such as Bernard–Soulier syndrome and velocardiofacial syndrome
  • Alpha granules defect, such as gray platelet syndrome
  • Calpain defect, including Montreal platelet syndrome

Moreover, they can be characterized by:

  • Abnormal neutrophil inclusions, such as May–Hegglin anomaly and Sebastian syndrome;
  • Systemic manifestations such as Hereditary macrothrombocytopenia with hearing loss, Fechtner syndrome, and Epstein syndrome; and
  • Harris platelet syndrome

Furthermore, giant platelet disorders may have no particular abnormalities, including Mediterranean macrothrombocytopenia.

TREATMENT

Patients with giant platelet syndrome have no medication treatments. However, this disorder may be controlled through:

  • Handling the symptoms with the patient
  • Managing the intense bleeding incidents, such as desmopressin acetate (DDAVP) or antifibrinolytic agents, treats minor bleeding

For people with the severe disorder, they should avoid antiplatelet medications and contact sports. Also, in some cases, people suffering from this disorder may need blood transfusions in treating bleeding or surgery.

 

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