Platelet Disorders

Platelet Disorders are conditions that affect the number or function of platelets (thrombocytes), which are essential for normal blood clotting. Platelets are tiny, disc-shaped fragments of blood cells that respond to blood vessel injury by clumping together to form a plug that helps stop bleeding. When platelets are too few, too many, or function abnormally, the body cannot form clots effectively, leading to prolonged or spontaneous bleeding.

Platelet disorders may be inherited (genetic) or acquired due to medical conditions, medications, or unknown factors. While some platelet disorders are mild and manageable, others can cause serious bleeding complications and require medical intervention. Diagnosis usually involves blood tests, platelet function studies, and sometimes genetic testing.

Types of Platelet Disorders

Bernard-Soulier Syndrome (BSS)

• A rare inherited disorder where platelets are unusually large and lack a protein (glycoprotein Ib) needed for platelet adhesion.
• Symptoms include:
  • Frequent, prolonged nosebleeds
  • Easy or excessive bruising
  • Gum bleeding
  • Heavy menstrual bleeding
• Prevalence: Approx. 1 in 1 million people
• Diagnosis: Blood smear, platelet function test, genetic analysis.

Glanzmann’s Thrombasthenia (GT)

• A genetic disorder where platelets lack the glycoprotein IIb/IIIa receptor necessary for platelet aggregation.
• Symptoms include:
  • Petechiae (tiny purple spots under the skin)
  • Easy bruising
  • Frequent nosebleeds
  • Heavy menstrual bleeding
• Prevalence: Approx. 1 in 1 million people
• Diagnosis: Platelet aggregation studies, flow cytometry, genetic testing.

Platelet Storage Pool Disease (SPD)

• A group of rare disorders where platelets lack or fail to release substances (granules) necessary for blood clotting.
• Symptoms include:
  • Nosebleeds
  • Gum bleeding
  • Heavy menstrual periods
  • Prolonged bleeding after surgery or injury
• Diagnosis: Platelet electron microscopy, secretion assays.

Common Symptoms of Platelet Disorders

• Excessive or prolonged bleeding
• Easy bruising
• Petechiae (small, pinpoint red or purple dots on skin)
• Nosebleeds (epistaxis)
• Gum bleeding
• Menorrhagia (heavy periods)
• Bleeding after minor trauma or surgery

Diagnosis

Diagnosis of platelet disorders includes:

• Complete Blood Count (CBC)
• Platelet function tests
• Platelet aggregation studies
• Genetic testing
• Bone marrow biopsy (in some cases)

Treatment Options

Treatment varies based on the type and severity of the disorder:

• Platelet transfusions (in severe bleeding episodes)
• Desmopressin (DDAVP) to help release stored clotting factors
• Antifibrinolytic agents (e.g., tranexamic acid) to reduce bleeding
• Hormonal therapy (for menstrual bleeding)
• Gene therapy (under research for some inherited disorders)
• Avoidance of blood-thinning medications (aspirin, NSAIDs)

Patients with diagnosed platelet disorders should be monitored regularly and advised to carry medical alert information for emergencies.