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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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Noncardiac Manifestations of Hereditary Amyloidosis

Sami L Khella1

  • 1Department of Neurology, Penn Presbyterian Medical Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

The American Journal of Cardiology
|November 11, 2022
PubMed

Insights

Cardiac amyloidosis is a serious, underdiagnosed condition. Recognizing noncardiac symptoms early can lead to quicker diagnosis and better outcomes for patients.

Area of Science:

  • Cardiology
  • Internal Medicine
  • Nephrology

Background:

  • Cardiac amyloidosis is a progressive and life-threatening condition.
  • It is frequently underrecognized, leading to delayed diagnosis and treatment.
  • Symptoms can affect multiple organs and mimic other common diseases.

Purpose of the Study:

  • To highlight the importance of noncardiac manifestations in early cardiac amyloidosis diagnosis.
  • To emphasize how recognizing these symptoms can improve patient prognosis.
  • To underscore the need for increased clinical awareness of this condition.

Main Methods:

  • Review of clinical presentations of cardiac amyloidosis.
  • Analysis of symptom timelines and diagnostic delays.
  • Correlation of noncardiac symptoms with cardiac involvement.

Main Results:

  • Noncardiac manifestations typically precede cardiac symptoms by several years.
  • Symptom overlap with other conditions complicates early diagnosis.
  • Delayed diagnosis is common due to the insidious and diverse nature of symptoms.

Conclusions:

  • Early recognition of noncardiac signs is crucial for timely diagnosis of cardiac amyloidosis.
  • Increased physician familiarity with diverse manifestations can improve patient outcomes.
  • Prompt diagnosis enables earlier treatment initiation, potentially altering the disease's progressive course.

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