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494) A 19-year-old woman with a history of bruising and thrombocytopenia her entire life presents to a hematologist. Her review of systems is otherwise negative. Results of her complete blood cell count (CBC) are shown in the table, and examination of the peripheral smear demonstrates platelets the size of the surrounding red blood cells (RBCs) and Döhle-like bodies in neutrophils. This presentation is most consistent with which platelet disorder?

Patient Reference Range Units

WBC 8.0 3.5-9.1 10³/μL

RBC 4.8 4.3-5.6 10¹²/L

Hemoglobin 14.2 13.3-16.2 g/dL

Hematocrit 42.8 38.8-46.4 %

MCV 90.0 79.0-93.3 fL

PLT 20 165-415 10³/μL

MPV 20 9-13 fL

	Patient	Reference Range	Units
WBC	8.0	3.5-9.1	10³/μL
RBC	4.8	4.3-5.6	10¹²/L
Hemoglobin	14.2	13.3-16.2	g/dL
Hematocrit	42.8	38.8-46.4	%
MCV	90.0	79.0-93.3	fL
PLT	20	165-415	10³/μL
MPV	20	9-13	fL

Bernard Soulier (BS) syndrome. May-Hegglin anomaly. Epstein syndrome. Fechtner syndrome. Glanzmann thrombasthenia.

Show Diagnosis/Topic

• Congenital macrothrombocytopenia syndromes include May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, Epstein syndrome, Bernard-Soulier (BS) syndrome, gray platelet syndrome, and X-linked macrothrombocytopenia with dyserythropoiesis.

• May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are MYH9-related diseases that are characterized by mutations in the myosin heavy chain 9 (MYH9) gene.

• MYH9-related disorders all have giant platelets (i.e., platelets at least the size of red blood cells [RBCs]) and are distinguished by the presence or absence of Döhle-like inclusions, hearing loss, nephritis, and cataracts.

• The majority of the MYH9 mutations show autosomal dominant inheritance.

• Most patients with MYH9-related disorders do not have clinically significant bleeding problems.

Bolton-Maggs PH, Chalmers EA, Collins PW, et al: A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006;135:603–633.

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Clinical Pathology: Hematology & Coagulation

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