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Glanzmann thrombasthenia

Definition

Glanzmann thrombasthenia is a rare disorder of blood platelets. Platelets are particles in the blood that aid in blood clotting.

Causes

Glanzmann thrombasthenia is caused by the lack of a protein that is normally on the surface of platelets. This substance is needed for platelets to clump together to plug up bleeding spots and begin forming a clot.

The condition is congenital, which means it is present from birth. There are several genetic abnormalities that can cause the condition.

Symptoms

Symptoms may include any of the following:

• Heavy bleeding during and after surgery

• Bleeding gums

• Bruising easily or pinpoint red spots on the skin

• Heavy menstrual bleeding

• Nosebleeds that do not stop easily

• Prolonged bleeding with minor injuries

Exams and Tests

The following tests may be used to diagnose this condition:

• Complete blood count (CBC)

• Platelet aggregation test

• Platelet function analysis (PFA)

• Prothrombin time (PT) and partial thromboplastin time (PTT)

Other tests may be needed. Family members may also need to be tested.

Treatment

There is no specific treatment for this disorder. Platelet transfusions may be given to people who are having severe bleeding.

Support Groups

More information and support for people with Glanzmann thrombasthenia and their families can be found at:

• Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/2478/glanzmann-thrombasthenia

• National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/glanzmann-thrombasthenia/

Outlook (Prognosis)

Glanzmann thrombasthenia is a lifelong condition, and there is no cure. You should take special steps to try to avoid bleeding if you have this condition.

Anyone with a bleeding disorder should avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and naproxen. These drugs can prolong bleeding times by preventing platelets from clumping.

Possible Complications

Complications may include:

• Severe bleeding

• Iron deficiency anemia in menstruating women due to abnormally heavy bleeding

When to Contact a Medical Professional

Contact your health care provider if:

• You have bleeding or bruising of an unknown cause

• Bleeding does not stop after usual treatments

Prevention

Glanzmann thrombasthenia is an inherited condition. There is no known prevention.

References

Neff AT. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 164.

Samji N, Chan A, Bhatt MD. Bleeding and clotting disorders in pediatrics. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 148.

Review Date: 2/2/2023

Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.