Table 2.

System-Based, Clinical Presentation of AL Amyloidosis Patients and Key Diagnostic Findings

Organ	Frequency of Involvement	Common Presenting Signs/Symptoms	Diagnostic Findings	Consensus Criteria for Involvementa
Heart	60%-75%	•Dyspnea on exertion •Orthopnea •Paroxysmal nocturnal dyspnea •Lower extremity edema •Pleural effusions •Jugular venous distension •Arrhythmia •Syncope •Anginab	ECG •Low QRS voltage •Conduction system disease •Atrial fibrillation •Poor R-wave progression in precordial leads TTE •Increased wall thickness •Diastolic dysfunction with preserved LVEF •Reduced GLS •CMR •Late gadolinium enhancement •RHC •Restrictive physiology	NT-proBNP > 332 ng/Lc OR Mean IVSd >12 mm
Kidney	50%-70%	•Lower extremity edema •Anasarca •Uremia	•Glomerular proteinuria (albuminuria) •Acute kidney injury •Hypercholesterolemia •Hypercoagulability	Proteinuria ≥0.5 g/24 h (mostly glomerular proteinuria, thus albumin)
Liver	20%	•Right upper quadrant tenderness •Early satiety •Weight loss	•Hepatomegaly •Isolated increase in alkaline phosphatase •Coagulopathy caused by coagulation factor deficiencyd	Liver span >15 cme OR Alkaline phosphatase elevation >1.5 times upper limit of normal
Gastrointestinal tract	10%-20%	•Diarrhea •Weight loss •Malabsorption •Hematochezia or melena		Direct biopsy verification
Lungf	30%-90%f	•Shortness of breath •Dry cough •Recurrent pleural effusions	•Pleural effusions •Interstitial pulmonary nodules	Direct biopsy verification
Peripheral nervous system	10%-20%	•Distal sensorimotor PN	•EMG: symmetric, axonal sensorimotor polyneuropathy	Clinical diagnosis
Autonomic nervous system	10%-20%	•Orthostatic hypotension •Early satiety •High (pseudo-obstruction, vomiting), or low (constipation alternating with diarrhea) intestinal dysmotility •Erectile dysfunction •Voiding dysfunction	•Delayed gastric emptying •Positive tilt test	Clinical diagnosis
Soft tissue	10%-20%	•Periorbital (or upper body) purpura •Macroglossia •Arthropathy •Myopathy •Ecchymotic bullae •Jaw or buttock claudicationg •Carpal tunnel (often bilateral)		Clinical diagnosis

The table outlines incidence of organ involvement and frequent signs/symptoms and diagnostic findings in patients with AL amyloidosis based on pattern of organ involvement (125,126). Consensus criteria for diagnosis also reported.

CMR = cardiac magnetic resonance; ECG = electrocardiogram; EMG = electromyography. GLS = global longitudinal strain; IVSd = interventricular septal wall thickness at end diastole; LV = left ventricular; LVEF = left ventricular ejection fraction; NT-proBNP = N-terminal pro–B-type natriuretic peptide; PN = peripheral neuropathy; RHC = right heart catheterization; TTE = transthoracic echocardiogram.

^aAlternative etiologies must be excluded.

^bTypical of patients with amyloid deposition in the smaller vessels within the heart wall, mimicking coronary artery disease in the absence of large-vessel disease.

^cIn the absence of renal failure or atrial fibrillation.

^dFactor X deficiency can occur independently of liver involvement caused by direct absorption of factor X by amyloid fibrils.

^eIn the absence of congestive hepatopathy secondary to heart failure.

^fDepending on single institution series, often asymptomatic and detected postmortem.

^gPresumed related to vascular deposition of amyloid.