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[Hereditary macrothrombocytopenia]

K Kasahara¹, T Takahashi, F Hamamoto

¹First Department of Internal Medicine, Sapporo Medical University School of Medicine.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology

|May 23, 1998

Summary

This case study highlights a hereditary macrothrombocytopenia in a young male with atopic dermatitis. The condition, characterized by large platelets, appears to be inherited, as his mother also has macrothrombocytopenia.

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Area of Science:

Hematology
Genetics

Background:

Presents a case of macrothrombocytopenia, a rare blood disorder characterized by abnormally large platelets.
The patient, a 19-year-old male, also has a history of severe atopic dermatitis and tetralogy of Fallot.

Observation:

Peripheral blood smear revealed giant platelets with a platelet count of 73,000/microliter.
Patient exhibited no bleeding tendency despite thrombocytopenia.
No abnormal findings or chromosomal aberrations were noted in bone marrow aspiration.

Findings:

Platelet aggregation studies showed normal responses to adenosine diphosphate, epinephrine, collagen, and ristocetin.
Slightly elevated platelet adhesiveness was observed using the modified Salzman method.
Unlike other macrothrombocytopenia syndromes, leukocytes lacked inclusion bodies.

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Implications:

The presence of macrothrombocytopenia in the patient and his mother strongly suggests a hereditary etiology.
This case contributes to understanding the diverse clinical presentations and potential genetic basis of inherited macrothrombocytopenia.