Related Experiment Video

Updated: Aug 19, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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AL Amyloidosis for Cardiologists: Awareness, Diagnosis, and Future Prospects: JACC: CardioOncology State-of-the-Art

Ashutosh D Wechalekar1, Marianna Fontana1,2, C Cristina Quarta3

  • 1National Amyloidosis Centre, London, United Kingdom.

JACC. Cardiooncology
|November 29, 2022
PubMed

Insights

Amyloid light chain (AL) amyloidosis, a rare heart failure cause, is often diagnosed late, worsening patient survival. Early symptom recognition and diagnosis are critical for timely treatment and improved outcomes in AL amyloidosis.

Area of Science:

  • Cardiology
  • Hematology
  • Rare Diseases

Background:

  • Amyloid light chain (AL) amyloidosis is a rare, severe, and frequently fatal condition.
  • Cardiac involvement is a common presentation, often leading to misdiagnosis as heart failure.
  • Delayed diagnosis significantly impacts patient survival, with a median survival of 4 months to 2 years post-diagnosis.

Purpose of the Study:

  • To raise awareness about the diagnostic challenges of AL amyloidosis.
  • To identify knowledge gaps in understanding and diagnosing the disease.
  • To highlight emerging treatments and the need for early recognition.

Main Methods:

  • Review of clinical presentation and diagnostic delays in AL amyloidosis.
  • Analysis of survival data in patients with cardiac involvement.
  • Summary of current and novel therapeutic strategies.

Main Results:

  • Variable presentation and perceived rarity contribute to diagnostic delays, averaging 2 years from symptom onset.
  • Cardiac amyloid infiltration is a primary predictor of mortality.
  • Significant survival disadvantage exists due to delayed diagnosis.

Conclusions:

  • Early recognition and diagnosis of AL amyloidosis are crucial for improving patient outcomes.
  • Addressing diagnostic challenges and knowledge gaps is essential.
  • Novel treatments offer hope, but timely initiation is paramount.

Keywords:
AL amyloidosisAL, amyloid light chainASCT, autologous stem cell transplantationATTR, transthyretinCMR, cardiac magnetic resonance imagingCR, complete responseCyBorD, cyclophosphamide-bortezomib-dexamethasoneFLC, free light chainIg, immunoglobulinLGE, late gadolinium enhancementNT-proBNP, N-terminal pro–brain natriuretic peptidePCD, plasma cell dyscrasiaQoL, quality of lifeVGPR, very good partial responseawarenessdiagnosisfuture therapies

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