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Alpha-1 antitrypsin deficiency

Francisco Dasí1

  • 1Universitat de València, Facultad de Medicina, Departamento de Fisiología, IIS INCLIVA, Valencia, Spain.

Medicina Clinica
|November 22, 2023
PubMed

Insights

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder impacting lungs and liver. Research is needed for better diagnosis, outcome prediction, and novel treatments beyond current augmentation therapy.

Area of Science:

  • Genetics and rare diseases
  • Pulmonology
  • Hepatology

Background:

  • Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder resulting in low levels of alpha-1 antitrypsin (AAT).
  • AATD can cause severe lung and liver disease in affected individuals.
  • Current challenges include underdiagnosis, varied clinical presentations, and limited liver disease treatments.

Purpose of the Study:

  • To review and update current knowledge on Alpha-1 antitrypsin deficiency.
  • To identify areas of controversy and knowledge gaps in AATD research.
  • To propose future research directions for improving AATD patient outcomes.

Main Methods:

  • Comprehensive literature review of existing studies on AATD.
  • Analysis of current diagnostic and therapeutic strategies.
  • Identification of emerging and investigational treatment modalities.

Main Results:

  • AATD necessitates improved early detection and outcome prediction biomarkers.
  • Augmentation therapy is the sole approved treatment, primarily for emphysema progression.
  • Novel strategies including gene therapy and stem cell treatments are under investigation.

Conclusions:

  • There is a critical need for enhanced diagnostic tools and predictive biomarkers for AATD.
  • Further research into alternative therapies is essential to address the unmet needs in AATD management, particularly for liver disease.
  • Addressing controversies and pursuing new research avenues will improve patient care and outcomes.

Keywords:
Alpha-1 antitrypsin deficiencyCOPDCirrhosisCirrosisCáncer de hígadoDéficit de alfa-1 antitripsinaEPOCEmphysemaEnfermedades raras respiratoriasEnfisemaLiver cancerRare respiratory diseases

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