Amyloidosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]

Overview

Amyloidosis needs to be differentiated from systemic diseases including acute myocarditis, bronchiectasis, and multiple myeloma.

Differentiating Amyloidosis from other Diseases

Amyloidosis should be differentiated from the following systemic diseases:

Cardiac Amyloidosis

Cardiac amyloidosis (AL and TTRwt) should be differentiated from other causes of heart failure:

Differential Diagnosis History and Symptoms Physical Examination Laboratory Findings Imaging Findings
Cardiac amyloidosis
  • Elevated jugular pressure

Periorbital purpura: Often occurs with sneezing, coughing or with minor trauma. Indicates capillary involvement of AL type amyloidosis.

  • Macroglossia
  • Abnormal phonation
  • Hepatomegaly
  • Ascites may be present in the setting of heart failure
  • Valvular involvement murmurs of mitral and tricuspid regurgitation (systolic).


  • Normocytic mormochromic anemia
  • Serum free-light-chain assay positive
  • Increased BNP, ANP and β2 microglobulin
  • Voltage-to-mass ratio is more sensitive than EKG, 2D Echo and nuclear scanning alone
ST Segment Elevation Myocardial Infarction
  • Chest pain with possible radiation to left arm and lower jaw
  • Squeezing, crushing chest pain
  • Sweating
  • Nausea and vomiting
  • Anxious patient in pain with diaphoresis
  • Signs of heart failure may be present
  • Arrhythmia
  • ST elevation, new left bundle branch block, and Q wave on EKG
  • Elevated cardiac biomarkers
  • Either complete or subtotal occlusion of an epicardial coronary artery on coronary angiography
  • Confluent hyperenhancement extending from the endocardium
Non ST Elevation Myocardial Infarction
  • Crushing, left-sided substernal chest pain or pressure that radiates to the neck or left arm
  • Same as ST-elevation MI
  • ST-segment depression or T-wave inversion on EKG
  • Elevated cardiac biomarkers
Pericarditis
  • Chest pain relieved by sitting up and leaning forward and worsened by lying down
  • Fever, anxiety, difficulty breathing
  • Pericardial friction rub
  • Signs of cardiac tamponade may be present
  • PR segment depression and electrical alternans on EKG
  • A flask-shaped, enlarged cardiac silhouette on CXR
  • Pericardial thickness of more than 4 mm on MRI
  • Pericardial effusion and cardiac chamber indentation or collapse on echo when cardiac tamponade is present
Alcoholic Cardiomyopathy
  • History of alcohol abuse
  • Fatigue, weakness, anorexia, palpitations, and shortness of breath on activity
  • Leg swelling and pedal edema
  • Signs of heart failure such as presence of S3 and S4 heart sounds, pedal edema, and jugular venous distension
  • Signs of alcoholic liver disease may be present
  • Elevated MCV and MCHC on CBC
  • Elevated LDH, AST, ALT, creatine kinase, gammaglutamyl transpeptidase, malic dehydrogenase, and alpha-hydroxybutyric dehydrogenase
  • Q waves and non specific ST and T wave changes on EKG
  • Cardiomegaly, pulmonary congestion, and pleural effusions on CXR
  • Left ventricular dilatation on echo

References



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