Cardiac AL amyloidosis presenting as recurrent dyspnoea in a patient with cancer: an important clinical clue to an early diagnosis

BMJ Case Rep. 2022 Sep 2;15(9):e245969. doi: 10.1136/bcr-2021-245969.

Abstract

Cardiac amyloidosis (CA) is challenging to diagnose due to its non-specific clinical manifestations early in the disease process. We report the case of a patient who presented with dyspnoea, abdominal distension and leg swelling. Medical history was notable for hypertension, recurrent vulvar squamous cell carcinoma and polysubstance abuse. Over 1 year before the official diagnosis of CA, the patient had multiple hospital readmissions for dyspnoea. Our case illustrates the importance of having a high index of clinical suspicion for an early diagnosis of CA. Furthermore, it highlights the need to re-evaluate a presumed diagnosis when a patient's symptoms recur or do not respond to appropriate treatment and to consider the influence of social factors on diagnostic processes.

Keywords: Cancer - see Oncology; General practice / family medicine; Gynecological cancer; Heart failure; cardiac amyloidosis; cardio-oncology.

Publication types

  • Case Reports

MeSH terms

  • Amyloidosis* / complications
  • Amyloidosis* / diagnosis
  • Amyloidosis* / pathology
  • Dyspnea / etiology
  • Early Detection of Cancer
  • Heart
  • Humans
  • Immunoglobulin Light-chain Amyloidosis* / complications
  • Immunoglobulin Light-chain Amyloidosis* / diagnosis
  • Neoplasm Recurrence, Local