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Glanzmann Thrombasthenia: Rare Inherited Platelet Function Disorder

Diagnosis and management of severe inherited bleeding disorder due to GPIIb/IIIa deficiency

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Glanzmann Thrombasthenia: Rare Inherited Platelet Function Disorder?

Glanzmann thrombasthenia caused by mutations in ITGA2B or ITGB3 genes encoding platelet GPIIb/IIIa complex.

Defective fibrinogen binding to platelet integrin prevents primary hemostasis through platelet aggregation.

Type I form has less than 5% normal GPIIb/IIIa expression with severe bleeding phenotype.

Type II form has 5-25% normal expression with milder phenotype though clinically significant bleeding.

Variant form has normal expression but functional defect with similar clinical manifestations.

Symptoms

Mucocutaneous bleeding with petechiae, purpura, ecchymoses from minimal trauma starting infancy.
Severe epistaxis often requiring repeated intervention and significant blood loss.
Gingival bleeding particularly with dental procedures or routine hygiene.
Menorrhagia in females often presenting as severe puberty bleeding.
Gastrointestinal bleeding, hematuria and surgical bleeding require specialized management.

Risk Factors

Autosomal recessive inheritance with consanguinity increasing risk in certain populations.
Higher prevalence in regions with high consanguinity rates including Middle East, India.
Pregnancy creates significant bleeding risk requiring multidisciplinary management.
Surgical procedures present high bleeding risk requiring perioperative management.
Anti-platelet antibodies development from transfusions reduces future treatment options.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Severe bleeding episodes require immediate evaluation and treatment with rFVIIa or platelet transfusion.
  • Pre-surgical evaluation requires comprehensive bleeding management plan including rFVIIa availability.
  • Pregnancy benefits from early specialty consultation for delivery planning and bleeding prevention.
  • Menorrhagia management may require hormonal therapy or specialized hemostatic interventions.
  • Family planning and genetic counseling for affected individuals and family members.

Treatment Methods

01
Recombinant activated factor VII (rFVIIa) 90 mcg/kg every 2-3 hours for active bleeding or surgical prophylaxis.
02
Platelet transfusions for severe bleeding though risk of alloimmunization development.
03
Antifibrinolytic agents (tranexamic acid, aminocaproic acid) for mucosal bleeding control.
04
Hormonal therapy for menorrhagia with combined oral contraceptives or progestins.
05
Comprehensive multidisciplinary care including avoidance of antiplatelet medications, careful surgical planning with rFVIIa coverage, dental care optimization with conservative approaches, vaccination per protocols, iron supplementation for chronic blood loss anemia, allogeneic hematopoietic stem cell transplantation considered curative for severe cases in selected patients with HLA-matched donors and ongoing genetic counseling for family members optimizes outcomes in this lifelong rare bleeding disorder.

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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