Clinical presentation

The symptomology is often complex and relates to which organs that are affected by the amyloid accumulations. During the early phases, symptoms and findings can be vague and uncharacteristic, and it therefore requires special awareness of the diagnosis to reach the suspicion. It is, however, also during this phase that treatment options and prognosis are best, and increased awareness of the diagnosis in the specialties where the patients are first assessed and diagnosed are crucial.

Typical symptoms, clinical findings and early warning signals with regards to organ involvement:

Organ Manifest clinical findings Early warning signs
Heart Heart failure
Arrhythmia (including ventricular, fatal)
EKG with low voltage
EKKO with restrictive myocardial hypertrophy, but not dilation, diastolic dysfunction
Increase of NT-pro-BNP (>332 ng/L; sensitivity 100%)
Kidneys Nephrotic syndrome
Kidney failure
Albuminuria >500 mg/d
Liver Hepatomegaly without ultrasound showing focal abnormalities Increased alkaline phosphatase and gamma GT
Autonomic neuropathy Orthostatic hypotension
Bladder and intestinal dysfunction
Hypotension (diminishing of hypertension)
Erectile dysfunction
Peripheral neuropathy Symmetrical, peripheral, ascending, sensory (axonal)
painful neuropathy
Neuropathic pain and reduced temperature sense
Connective tissue/soft tissue Macroglossia,
Periorbital hemorrhaging,
Amyloid tumors,
Joint deposits/joint tumors/pain
Carpal tunnel syndrome (often bilateral)
Gastrointestinal Malnutrition
Diarrhea
Weight loss
Lungs Dyspnea
Reduced diffusion capacity

During the late phases there may be almost pathognomonic symptoms and findings in the shape of severe macroglossia and periorbital hemorrhaging (“raccoon eyes”). See photos below.