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Related Experiment Video

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Hereditary angioedema: a Chinese perspective.

Shuang Liu1, Yingyang Xu2, Yaping Liu3

  • 1Peking Union Medical College.

European Journal of Dermatology : EJD
|March 5, 2019
PubMed
Summary

Hereditary angioedema (HAE) in China primarily affects patients with Type 1 HAE, showing later onset and fewer abdominal attacks than Western populations. Research highlights SERPING1 mutations and limited treatment options.

Keywords:
Chinaclinical featuresgenetichereditary angioedematherapeutic intervention

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Area of Science:

  • Genetics and rare diseases
  • Immunology and vascular permeability disorders

Background:

  • Hereditary angioedema (HAE) is a rare autosomal dominant disorder affecting vascular permeability, with genetic links to SERPING1, FXII12, PLG, and ANGPT1 genes.
  • Research on HAE in China since the 1980s reveals distinct clinical characteristics compared to Western populations.

Purpose of the Study:

  • To provide an update on Hereditary Angioedema (HAE) in China.
  • To review research progress on HAE in the Chinese population over the past 30 years.
  • To highlight unique clinical features and genetic mutations observed in Chinese HAE patients.

Main Methods:

  • Review of published research on Hereditary Angioedema (HAE) in China.
  • Analysis of clinical characteristics, genetic mutations, and treatment approaches in Chinese HAE patients.
  • Comparison of HAE patient data from China with international populations.

Main Results:

  • Type 1 HAE constitutes 98.73% of cases in China; Type 3 HAE has not been diagnosed.
  • Chinese HAE patients exhibit a later average onset age (21.25 years) and a lower incidence of abdominal attacks (34.18%) compared to other populations.
  • Fifty-six SERPING1 mutations have been identified in Chinese patients; approved treatments for acute attacks are lacking, with danazol and tranexamic acid being limited long-term prophylaxis options.

Conclusions:

  • HAE in China presents with specific epidemiological and clinical features, notably a high prevalence of Type 1 HAE and distinct attack patterns.
  • The genetic landscape of HAE in China is characterized by numerous SERPING1 mutations.
  • Current treatment options for HAE in China are limited, underscoring the need for further therapeutic development and approved medications.