We have located links that may give you full text access.
A Case of Myosin Heavy Chain 9-Related Disorder Following Splenectomy Due to Misdiagnosis of Idiopathic Thrombocytopenic Purpura.
Curēus 2024 Februrary
This case study reports a patient with Myosin Heavy Chain 9 (MYH9)-related disorder (MYH9-RD) which is characterized by congenital macrothrombocytopenia, Döhle-like bodies, sensorineural hearing loss, cataracts, and glomerulopathy. Often misdiagnosed as idiopathic thrombocytopenic purpura (ITP), MYH9-RD requires accurate identification to avoid inappropriate treatments like steroids, rituximab, or splenectomy. Platelet transfusions were traditionally the only therapeutic option, but thrombopoietin receptor agonists (TPO-RA), specifically eltrombopag, have shown success in MYH9-RD treatment. The case report involves a 27-year-old male with chronic ITP post-splenectomy, revealing thrombocytopenia, mild anemia, giant platelets, kidney failure, and hearing loss. Genetic testing identified a c.287C>T; p.(Ser96Leu) variant associated with MYH9-RD. Eltrombopag treatment, initiated before the definitive diagnosis, exhibited clinical and laboratory success. The study discusses the evolving landscape of treatments for inherited thrombocytopenias, emphasizing eltrombopag's efficacy, especially post-splenectomy, and its potential application in short-term preparations for elective surgeries. The study underscores the importance of timely MYH9-RD diagnosis, preventing misdiagnoses and inappropriate treatments. Eltrombopag stands out as a potential therapeutic option, offering effective platelet count management, especially post-splenectomy, with ongoing research exploring alternative TPO-RAs. As MYH9-RDs are rare, increased awareness among healthcare professionals is crucial to ensure accurate diagnoses and optimal patient care.
Full text links
Related Resources
Trending Papers
Renin-Angiotensin-Aldosterone System: From History to Practice of a Secular Topic.International Journal of Molecular Sciences 2024 April 5
Prevention and treatment of ischaemic and haemorrhagic stroke in people with diabetes mellitus: a focus on glucose control and comorbidities.Diabetologia 2024 April 17
British Society for Rheumatology guideline on management of adult and juvenile onset Sjögren disease.Rheumatology 2024 April 17
Albumin: a comprehensive review and practical guideline for clinical use.European Journal of Clinical Pharmacology 2024 April 13
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app