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Potential and emerging therapeutics for HHT.

Harish Eswaran1, Raj S Kasthuri1

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Summary

Hereditary hemorrhagic telangiectasia (HHT) management with bevacizumab showed initial anemia resolution but persistent epistaxis and inconvenience. Alternative HHT treatments are being explored for better patient outcomes.

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Area of Science:

  • Vascular biology
  • Genetics of rare diseases
  • Gastroenterology and hematology

Background:

  • Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder.
  • ACVRL1 gene variants are associated with HHT.
  • HHT manifestations include epistaxis and gastrointestinal bleeding, causing anemia.

Purpose of the Study:

  • To evaluate the long-term efficacy and patient-reported outcomes of bevacizumab in HHT.
  • To explore alternative management strategies for HHT patients experiencing persistent symptoms or treatment inconvenience.

Main Methods:

  • Case report of a 64-year-old woman with HHT and an ACVRL1 variant.
  • Initiation and maintenance of bevacizumab therapy.
  • Monitoring of HHT symptoms, anemia, and treatment adherence.
  • Patient's expressed interest in alternative treatment options.

Main Results:

  • Bevacizumab initially resolved anemia but did not eliminate frequent epistaxis.
  • Ongoing iron deficiency necessitated periodic iron infusions.
  • The patient found the bi-weekly bevacizumab infusions inconvenient.
  • Persistent symptoms and inconvenience prompted discussion of alternative HHT therapies.

Conclusions:

  • Bevacizumab can be effective for anemia in HHT but may not fully control all symptoms.
  • Patient convenience and persistent epistaxis are significant factors in treatment management.
  • Exploring alternative therapies is crucial for optimizing HHT patient care and quality of life.