Glanzmann's thrombasthenia, what to know?

 Glanzmann's thrombasthenia is a rare inherited bleeding disorder caused by a defect in the platelet integrin αIIbβ3, which affects platelet aggregation. Treatment generally focuses on managing bleeding episodes and preventing excessive bleeding. Here are some of the common treatment options:

1. Platelet Transfusions: In cases of significant bleeding or prior to surgery, platelet transfusions can provide the missing platelet function.

2. Desmopressin (DDAVP): This medication can increase the release of von Willebrand factor and factor VIII, which might help improve platelet function in some patients with mild forms of Glanzmann's thrombasthenia.

3. Antifibrinolytic Therapy: Drugs like tranexamic acid or aminocaproic acid may be used to prevent the breakdown of blood clots, especially during dental procedures or surgery.

4. Recombinant Activated Factor VII (rFVIIa): In cases of severe bleeding, rFVIIa can be used to help promote clotting in the absence of normal platelet aggregation.

5. Gene Therapy: Research into gene therapy is ongoing and may offer a potential future treatment option. Early trials have shown some promise in correcting the genetic defect that causes the disorder.

6. Avoidance of Certain Medications: Medications that affect platelet function (like aspirin or NSAIDs) should be avoided, as they can worsen bleeding tendencies.

7. Bone Marrow or Stem Cell Transplantation: In rare, severe cases, a bone marrow or stem cell transplant might be considered, especially if other treatments are ineffective.

Treatment plans are highly individualized, and it's essential for patients with Glanzmann's thrombasthenia to be managed by a hematologist familiar with the condition.