Hamostaseologie 2023; 43(04): 238-240
DOI: 10.1055/a-2031-7790

Progress in Hemostasis (Part 1): Improved Management of Inherited Platelet Disorders: Reality or Illusion?

Werner Streif
1   Department of Pediatrics 1, Medical University of Innsbruck (MUI), Innsbruck, Austria
› Author Affiliations


Platelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as “syndromic.” The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection of many “new” platelet disorders. However, still many patients with a well-described platelet dysfunction remain undetected until severe bleeding occurs.

Publication History

Article published online:
23 August 2023

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  • References

  • 1 Gebetsberger J, Mott K, Bernar A. et al. State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders. Hamostaseologie 2023; 43: 247-254
  • 2 Strauss G, Mott K, Klopocki E. et al. Thrombocytopenia Absent Radius Syndrome: From Current Genetics to Patient Self-Empowerment. HHamostaseologie 2023; 43: 255-261
  • 3 Bargehr C, Knöfler R, Streif W. Treatment of Inherited Platelet Disorders: Current Status and Future Options. Hamostaseologie 2023; 43: 262-271