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Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.
- Source :
-
Transfusion [Transfusion] 2016 Feb; Vol. 56 (2), pp. 349-53. Date of Electronic Publication: 2015 Oct 07. - Publication Year :
- 2016
-
Abstract
- Background: Mutations of nonmuscle myosin heavy chain 9 (MYH9) gene are an autosomal dominant cause of inherited thrombocytopenia in children. MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Patients with these disorders often present with macroplatelets and thrombocytopenia and have a mild bleeding tendency; extrahematologic manifestations (nephropathy, deafness, and cataracts) correlate with specific mutations. No definitive guidelines exist for preoperative prophylactic platelet (PLT) transfusion in these patients.<br />Study Design and Methods: This was a case study and literature review.<br />Results: A 6-year-old male presented with appendicitis. Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in the MYH9 gene previously reported as a known cause of MYH9-related disorders. Involvement of other organ systems was not found on initial work-up. The patient's PLT count on admission was 20 × 10(9) /L. The degree of thrombocytopenia prompted transfusion of apheresis PLTs and he had good response (73 × 10(9) /L). After infusion he developed hives, rash, itching, and nausea, which resolved after administration of epinephrine and hydrocortisone. Transfusion reaction work-up was negative and symptoms were interpreted as an allergic reaction. The appendectomy was uneventful.<br />Conclusion: This patient's PLT count was within guidelines to warrant transfusion; however, some patients with MYH9 mutations have counts above the transfusion threshold. To the authors' knowledge, there are no set guidelines for preoperative prophylaxis in a patient with an MYH9 deficiency. The management of the bleeding diathesis in these patients, especially in the setting of invasive procedures, is uncertain.<br /> (© 2015 AABB.)
- Subjects :
- Acute Disease
Appendicitis blood
Child
Hearing Loss, Sensorineural blood
Hearing Loss, Sensorineural genetics
Humans
Male
Molecular Motor Proteins genetics
Molecular Motor Proteins metabolism
Myosin Heavy Chains genetics
Myosin Heavy Chains metabolism
Thrombocytopenia blood
Thrombocytopenia genetics
Thrombocytopenia surgery
Appendicitis surgery
Hearing Loss, Sensorineural surgery
Platelet Transfusion
Preoperative Care
Thrombocytopenia congenital
Subjects
Details
- Language :
- English
- ISSN :
- 1537-2995
- Volume :
- 56
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Transfusion
- Publication Type :
- Academic Journal
- Accession number :
- 26446054
- Full Text :
- https://doi.org/10.1111/trf.13366