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MYH-9 associated congenital macrothrombocytopenias

MYH 9 associated congenital macrothrombocytopenias are important in an examination point of view. Let’s look at different types, key differences and some multiple choice questions.

A diverse group of autosomal dominant syndromes, referred to as MYH9-related macrothrombocytopenias, include the

  1. May-Hegglin anomaly,
  2. Fechtner syndrome,
  3. Epstein syndrome, and
  4. Sebastian syndrome

These share features of increased platelet size, cytoplasmic inclusions in leukocytes (Döhle bodies), and premature release of platelets. These entities arise from mutations in MYH9 encoding the nonmuscle myosin heavy chain IIA, a contractile cytoskeletal protein. All of the MYH-9 syndromes have macrothrombocytopenia; other features such as nephritis, sensorineural deafness, and cataracts serve to distinguish them.

FIND A QUICK DIFFERENTIAL DIAGNOSIS OF ALL MYH 9 ASSOCIATED DISORDERS

REVIEW QUESTIONS

1.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. 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?

A. Bernard Soulier syndrome.

B. May-Hegglin anomaly.

C. Fechtner syndrome.

D. Epstein syndrome.

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Answer is B. May Hegglin anomaly presents with thrombocytopenia, giant platelets, and Döhle-like inclusions in neutrophils without hearing loss, nephritis, or cataracts.

2.A 20-year-old man with a history of bruising and thrombocytopenia her entire life presents to a hematologist. His review of systems revealed presence of nephritis, hearing loss and cataracts. 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?

A. Sebastian syndrome

B. Fechtner syndrome

C. Epstein syndrome

D. May Hegglin anomaly.

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ANSWER: B: FECHTNER SYNDROME Characterized by thrombocytopenia, giant platelets, Döhle-like inclusions in neutrophils, hearing loss, nephritis, and cataracts.

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