WHAT IS AMYLOIDOSIS
Amyloidosis is a progressive cardiac disease caused by misfolded proteins that infiltrate the heart, muscle, kidneys, eyes and nerves. Signs and Symptoms Amyloidosis typically presents with symptoms of:
1. Heart failure
2. Autonomic neuropathy
3. Bilateral carpal tunnel
4. Sensorimotor polyneuropathy
WHEN TO SUSPECT THE DIAGNOSIS
Red flags for the diagnosis of amyloidosis include:
1. Heart failure
2. Unexplained LVH
3. Orthostatic hypotension
4. Polyneuropathy esp. in lower limbs
5. Bilateral carpal tunnel
6. Spinal stenosis
7. Biceps tendon rupture
8. Sexual dysfunction Gastroparesis
9. Severe constipation or diarrhea
HOW TO DIAGNOSE AMYLOIDOSIS
Nuclear imaging is the gold standard for the diagnosis of ATTR amyloidosis.(Canadian Guidelines 2021)Technetium labeled pyrophosphate localizes to cardiac transthyretin deposits and detects 99% of treatable forms of ATTR amyloidosis. Patients with suspected amyloidosis require prior testing to exclude light chain disease. MRI and Echo strain imaging can increase suspicion but are not sufficient for diagnosis. Genetic testing is important to identify hereditary amyloidosis (hATTR) for which there is a specific effective therapy. A small subset require endomyocardial biopsy to confirm the diagnosis.
EARLY DETECTION IS ESSENTIAL
Because symptoms mimic more common conditions, diagnosis is often delayed for many years with multiple doctor visits. Untreated, ATTR amyloidosis causes progressive cardiac and neurologic disability, reducing quality of life with early mortality. There are now effective disease modifying therapies that improve outcomes for both cardiac and neurological presentations. The diagnosis and management of amyloidosis requires teamwork. Corcare as your community partner has the resources to support your patients.