eMedicine Specialties > Pediatrics: General Medicine > Hematology

Thrombasthenia: Differential Diagnoses & Workup

Author: Noah C Federman, MD, Assistant Professor of Pediatrics, Division of Pediatric Hematology/Oncology, Mattel Children's Hospital, David Geffen School of Medicine; Director, Pediatric Bone and Soft Tissue Sarcoma Program, University of California at Los Angeles
Coauthor(s): Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA; Mark E Green, MD, Chief, Department of Emergency Medicine, Emergency Medicine, Gateway Medical System; Lawrence S Frankel, MD, Director of Pediatric Hematology/Oncology, Scott and White Clinic; Professor, Department of Pediatrics, Division of Hematology/Oncology, Texas A&M University School of Medicine
Contributor Information and Disclosures

Updated: Nov 18, 2008

Differential Diagnoses

Abdominal Trauma
Head Trauma
Bernard-Soulier Syndrome
Hematuria
Birth Trauma
Hemolytic-Uremic Syndrome
Child Abuse & Neglect: Physical Abuse
Meckel Diverticulum
Epistaxis
Neonatal Sepsis
Gastrointestinal Bleeding: Surgical Perspective
Von Willebrand Disease

Other Problems to Be Considered

Disseminated intravascular coagulation
Idiopathic thrombocytopenic purpura
Gray platelet syndrome (a -granule deficiency)
Hermansky-Pudlak syndrome
Pseudo-von Willebrand disease (vWD)
Scott syndrome
Quebec platelet syndrome
Chédiak-Higashi syndrome
Medication-induced (aspirin) platelet inhibition

Workup

Laboratory Studies

  • A history of prolonged bleeding, a prolonged bleeding time, and failure of platelets to aggregate in response to L-epinephrine, adenosine 5'-diphosphate (ADP), collagen, and arachidonic acid are diagnostic of thrombasthenia. Note that response to ristocetin in platelet aggregation studies is normal.
  • The platelet function assay PFA-100 (Dade-Behring; Miami, Fla) can replace bleeding times and may aid in the diagnosis of Glanzmann thrombasthenia (GT). The PFA-100 measures the time to closure when blood is passed through a collagen filter. This time is prolonged in patients with GT.7
  • A CBC count and peripheral smear may also be helpful to suggest the degree of bleeding and rule out other potential causes. Patients who are thrombasthenic have platelet counts within the reference range and, on blood smear findings, normal platelet morphology.
  • Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are within reference ranges.
  • A urinalysis may reveal proteinuria and microscopic hematuria.
  • The diagnosis of GT should always be confirmed by documenting the deficiency of GP IIb-IIIa using flow cytometry or immunoblot analysis.

Imaging Studies

  • Perform head CT scanning in patients with a history of the disease and head trauma.

More on Thrombasthenia

Overview: Thrombasthenia
Differential Diagnoses & Workup: Thrombasthenia
Treatment & Medication: Thrombasthenia
Follow-up: Thrombasthenia
References
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References

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  2. Nathan DG, Orkin SH. Nathan and Oski's Hematology of Infancy and Childhood. 6th ed. Philadelphia, PA: WB Saunders.

  3. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. Aug 2005;3(8):1773-82. [Medline].

  4. Lee GR, Foertser J, Lukens J, Paraskevas F. Wintrobe's Clinical Hematology. 10th ed. Philadelphia, PA: Williams & Wilkins; 1999.

  5. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006;1(1):10. [Medline]. [Full Text].

  6. Toogeh G, Sharifian R, Lak M, et al. Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran. Am J Hematol. 2004;77:198-199. [Medline].

  7. Buyukasik Y, Karakus S, Goker H, Galantino G. Rational use of PFA-100 device for screening of platelet function disorders and von Willebrand disease. Blood Coag Fibrinolysis. 2002;13:349-353. [Medline].

  8. Poon MC. The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders. Transfus Med Rev. Jul 2007;21(3):223-36. [Medline].

  9. Connor P, Khair K, Liesner R, Amrolia P, Veys P, Ancliff P. Stem cell transplantation for children with Glanzmann thrombasthenia. Br J Haematol. Mar 2008;140(5):568-71. [Medline].

  10. Arvin AM, Behrman RE, Kliegman R, eds. Nelson Essentials of Pediatrics. 3rd ed. Philadelphia, PA: WB Saunders; 1998.

  11. Bellucci S, Damaj G, Boval B, et al. Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization. Bone Marrow Transplant. Feb 2000;25(3):327-30. [Medline].

  12. Coller BS, Shattil SJ. The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend. Blood. Oct 15 2008;112(8):3011-25. [Medline].

  13. Hoffman R, McGlave P, Shattil SJ, et al. Hematology: Basic Principles and Practice. 3rd ed. New York, NY: Churchill Livingstone; 1999.

  14. Kashyap R, Kriplani A, Saxena R, Takkar D, Choudhry VP. Pregnancy in a patient of Glanzmann's thrombasthenia with antiplatelet antibodies. J Obstet Gynaecol Res. Jun 1997;23(3):247-50. [Medline].

  15. Katzung B. Basic and Clinical Pharmacology. 6th ed. Norwalk, CT: Appleton & Lange; 1994.

  16. Linden MD, Frelinger AL, Barnard MR, et al. Application of flow cytometry to platelet disorders. Seminars in Thrombosis and Hemostastis. 2004;30:501-511. [Medline].

  17. Martin I, Kriaa F, Proulle V, et al. Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti-glycoprotein IIb-IIIa antibodies. Br J Haematol. Dec 2002;119(4):991-7. [Medline].

  18. Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D. Glanzmann's thrombasthenia: updated. Platelets. Nov 2002;13(7):387-93. [Medline].

  19. Poon MC, D'Oiron R, Von Depka M, et al. Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann's thrombasthenia: results of an international survey. J Thromb Haemost. Jul 2004;2(7):1096-103. [Medline].

  20. Poon MC, Demers C, Jobin F, Wu JW. Recombinant factor VIIa is effective for bleeding and surgery in patients with Glanzmann thrombasthenia. Blood. Dec 1 1999;94(11):3951-3. [Medline]. [Full Text].

  21. Sassetti B, Lajmanovich A, Vazquez A, et al. Glanzmann thrombasthenia in children from Argentina. J Pediatr Hematol Oncol. Feb 1996;18(1):23-8. [Medline].

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Further Reading

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Keywords

thrombasthenia, Glanzmann thromboasthenia, GT, Glanzmann disease, constitutional thrombopathy, hereditary hemorrhagic thrombopathy, Bernard-Soulier syndrome, hereditary hemorrhagic disorder, menorrhagia, epistaxis, purpura, circumcision, gingival bleeding, dental extraction, head trauma, iron deficiency anemia, stem cell transplantation, SCT

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Contributor Information and Disclosures

Author

Noah C Federman, MD, Assistant Professor of Pediatrics, Division of Pediatric Hematology/Oncology, Mattel Children's Hospital, David Geffen School of Medicine; Director, Pediatric Bone and Soft Tissue Sarcoma Program, University of California at Los Angeles
Noah C Federman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, and Connective Tissue Oncology Society
Disclosure: Nothing to disclose.

Coauthor(s)

Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA
Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Mark E Green, MD, Chief, Department of Emergency Medicine, Emergency Medicine, Gateway Medical System
Mark E Green, MD is a member of the following medical societies: American College of Emergency Physicians and American Medical Association
Disclosure: Nothing to disclose.

Lawrence S Frankel, MD, Director of Pediatric Hematology/Oncology, Scott and White Clinic; Professor, Department of Pediatrics, Division of Hematology/Oncology, Texas A&M University School of Medicine
Disclosure: Nothing to disclose.

Medical Editor

J Martin Johnston, MD, Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Pediatric Hematology/Oncology, Backus Children's Hospital; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital
J Martin Johnston, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

James L Harper, MD, Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD, King Fahd Professor of Pediatric Oncology, Department of Oncology, Division of Pediatric Oncology, Johns Hopkins University School of Medicine
Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

 
 
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