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[Hereditary haemorrhagic telangeiectasia].

Kumanan Rune Nanthan1, Pernille Mathiesen Tørring2, Jens Kjeldsen3

  • 1Øre- Næse- Halsafdelingen, Odense Universitetshospital.

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|June 20, 2025
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Summary

Hereditary Haemorrhagic Telangiectasia (HHT) management in Denmark involves screening, diagnosis, and treatment, focusing on anemia and new biological therapies. Advances in genetic sequencing are also being utilized for HHT patients.

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Area of Science:

  • Genetics
  • Internal Medicine
  • Vascular Medicine

Background:

  • Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder affecting 15.6/100,000 individuals in Denmark.
  • The condition is characterized by abnormal blood vessel formation, leading to significant health complications.

Purpose of the Study:

  • To review current Danish practices for screening, diagnosis, and treatment of HHT.
  • To highlight the importance of managing HHT-associated anemia.
  • To discuss emerging treatments, including biological therapies and genetic sequencing.

Main Methods:

  • Literature review of current Danish clinical guidelines and practices.
  • Analysis of established and novel therapeutic approaches for HHT.
  • Synthesis of information on diagnostic and screening protocols.

Main Results:

  • Current Danish practice encompasses comprehensive screening, diagnosis, and outpatient management of HHT.
  • Effective management of HHT-associated anemia is crucial for patient well-being.
  • Biological treatments and advanced genetic sequencing represent significant recent advancements in HHT care.

Conclusions:

  • Optimized screening and treatment protocols are essential for HHT patients in Denmark.
  • Addressing anemia is a key component of HHT management.
  • Integration of new biological therapies and genetic sequencing promises improved outcomes for individuals with HHT.