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A 2 2 -year-old male patien t presents with recu rrent epistaxis and a history of pro-longed bleeding after m i nor cuts. At age LJ, he had a splenectomy due to presumed immune th rombocytopenia. He is referred to hematology for evaluation of thrombo-cytopenia. His platelet count is LJ7 .000/ JLL. Hemoglobin and leukocyte coun ts are normal. A peripheral blood smear is shown below.
The clinical history and peripheral smear are consistent with a diagnosis of?
- May-Hegglin anomaly
- Wiskott-Aldrich syndrome
- Glanzmann thrombasthenia
- Platelet satellitisim
- Bernard-Soulier syndrome (BSS)
Medicine
E. The peripheral blood smear shows large/giant platelets. This finding, with the history of bleeding, is most consistent with a diagnosis of BSS. BSS is an inherited, usually autosomal recessive, platelet disorder characterized by prolonged bleeding time, thrombocytopenia, and large platelets. Of note, Howell-Jolly bodies and a few acanthocytes are also evident on the blood smear secondary to splenectomy. Immune thrombocytopenia (ITP) may resemble BSS in that platelets may be large.
However, the diagnosis of BSS can be established by flow cytometry, which revealed decreased surface GPlb and confirmed the diagnosis of BSS in our patient. Several patients with BSS have undergone splenectomy because of a misdiagnosis of ITP. Patients with May-Hegglin anomaly are usually asymp-tomatic and have no serious bleeding issues. Also, peripheral blood in these patients shows blue inclu-sions in the leukocytes plus large platelets. Wiskott-Aldrich syndrome is associated with small plate-lets, while platelets in Glanzmann thrombasthenia are of normal size. Platelet satellitism is an in vitro phenomenon and is thought to be related to the chemical EDTA in blood-collection tubes.
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