Diagnosing Glanzmann’s thrombasthenia
Because Glanzmann’s thrombasthenia (GT) shares symptoms with other acquired platelet disorders and von Willebrand disease, diagnosis is often missed.1,2
Diagnosing Glanzmann’s thrombasthenia
Because Glanzmann’s thrombasthenia (GT) shares symptoms with other acquired platelet disorders and von Willebrand disease, diagnosis is often missed.1,2
Common signs and symptoms of GT4,a
Most patients with GT begin experiencing symptoms—such as epistaxis and easy bruising—in childhood. Common signs of GT also include heavy menstrual bleeding and gingival bleeding.2,4
Importance of a correct diagnosis
Diagnosing Glanzmann’s thrombasthenia can be difficult because it requires careful analysis of medical history, family history and clinical presentation. ~26% of patients with GT can experience severe bleeding episodes; a correct diagnosis is vital for patient health.1,3,a
aBased on data from Glanzmann’s Thrombasthenia Registry (GTR).
How do patients with GT present?
The following actual patient cases provide insight into typical GT symptoms. Recognizing these symptoms may be the first step toward an accurate GT diagnosis.
Actor portrayal
Epistaxis
2.5-year-old female5
2.5 year-old patient presented to emergency department with >1-hour episode of severe epistaxis and history of recurrent epistaxis (~2-3 bleeding episodes per month and easy bruising).
Actor portrayal
Heavy menstrual bleeding
14-year-old female6
14 year-old patient presented with heavy menstrual bleeding requiring 10 tampons per day. The patient had a history of gingival bleeding and epistaxis and was diagnosed with GT at 8 years old.
Gingival bleeding
18-year-old male7
18 year-old patient presented with an average hemoglobin of 3.6 g/dL over the past 6 months from chronic gingival bleeding alone. The patient was diagnosed at 2 years old and has a history of chronic gingivitis and associated gum bleeds since early childhood.
ED=emergency department.
These are actual patient cases.
A diagnostic algorithm for Glanzmann’s thrombasthenia
Learn about the steps to diagnosing Glanzmann’s thrombasthenia in the emergency department.
References:
- Solh T, Botsford A, Solh M. Glanzmann’s thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. J Blood Med. 2015;6:219-227.
- Lambert MP. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program. 2011;2011:377-383.
- Di Minno G, Zotz RB, d’Oiron R, et al. The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. Haematologica. 2015;100(8):1031-1037.
- Poon MC, Di Minno G, d’Oiron R, et al. New insights into the treatment of Glanzmann thrombasthenia. Transfus Med Rev. 2016;30(2):92-99
- Recht M et al. Epistaxis as a common presenting symptom of Glanzmann’s thrombasthenia, a rare qualitative platelet disorder: illustrative case examples. Case Rep Emerg Med. 2017:8796425.
- Lu M, Yang X. Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series. BMC Womens Health. 2018;18(1):45.
- Ghosh A et al. Total extraction as a treatment for anaemia in a patient of Glanzmann’s Thrombasthenia with chronic gingival bleed: case report. J Clin Diagn Res. 2016;10(1):ZD11-ZD12.