Cardiac
What kind of cardiomyopathy is associated with cardiac amyloidosis?
Restrictive cardiomyopathy, causing Heart failure with preserved ejection fraction
What non-cardiac physical exam findings can be seen with amyloidosis? Name 2 of 5
Hepatomegaly, macroglossia, carpal tunnel, autonomic instability, easy bruising
What minimally invasive first step can be used to diagnose amyloidosis in general? (Name 1/2)
Abdominal fat pad aspiration or rectal mucosa,
Classic Congo red stain with with apple-green biorefringence when examined under polarized light.
This treatment is indicated for isolated end-stage organ involvement in selected patients.
Transplant (e.g. heart, liver, etc.)
What are the 5 types of systemic amyloidosis? (Name 3/5)
AL amyloidosis, AA amyloidosis, wild type ATTR, hereditary ATTR, dialysis-related amyloidosis
What is the most sensitive and specific test for cardiac amyloidosis?
Cardiac MRI
Order this when Echo, physical exam, and EKG point towards cardiac amyloidosis
What is the most commonly affected organ in amyloidosis? How does it present?
Kidneys, presents with massive nephrotic syndrome-level proteinuria
A patient diagnosed with AL amyloidosis by biopsy should undergo what to evaluate for plasma cell dyscrasias (multiple myeloma, MGUS, etc)?
SPEP/UPEP, bone marrow biopsy
Never give what medication to amyloidosis patients due to autonomic dysfunction
Beta blockers
Which type of amyloidosis has the most rapidly progressive clinical course?
AL Amyloid (median survival without treatment is 1-2 years)
What echo findings are suggestive of cardiac amyloidosis?
Echo showing increased thickness >12mm and apical sparing.
Apical sparing means the apex is contracting harder than the rest of the heart, normally is the other way around. Can help distinguish from HCM
Autonomic complication causing syncope in systemic amyloidosis
Orthostatic hypotension (amyloid plaques building up in autonomic ganglia, causing dysautonomia)
A negative fat pad biopsy does NOT exclude amyloidosis of this organ.
The heart
ATTR can still be missed on fat pad biopsy, use echo, ekg, and physical exam to decide for further workup
What is the treatment for AA amyloidosis?
Treating the underlying condition (RA, IBD, etc)
This condition is the leading cause of death in patients with systemic amyloidosis.
Cardiac involvement, advanced diastolic heart failure
What EKG findings suggest cardiac amyloidosis?
low voltage EKG (paradoxical wall thickening but low voltage)
What chronic inflammatory conditions are associated with AA amyloidosis? (Name 2 of 5)
RA, IBD, SLE, Familial Mediterranean Fever, any chronic infection
Inflammation causes the liver produces massive amounts of SAA protein, splits into AA protein, then deposits in tissues
This gold-standard technique is used to definitively to type the exact type of amyloid deposits after getting a biopsy
Mass spectrometry
What is the treatment for AL amyloidosis?
Chemotherapy with melphalan and corticosteroids, and suitable patients may be referred for autologous stem cell transplant
What 2 infections are most commonly affiliated with amyloidosis (AA)
TB and osteomyelitis
chronic inflammation of the infection leads to release of AA proteins from the liver
Once confirmed by cardiac MRI, what 2 tests can differentiate the 2 types of cardiac amyloidosis?
SPEP/UPEP (AL amyloidosis) and 99-tech PYP scan (ATTR)
Get SPEP/UPEP first, if negative, then get PYP scan
This muscle rupture often precedes ATTR amyloidosis for years
Biceps tendon rupture
Staging system used for prediction of survival in AL amyloidosis
Mayo Clinic staging system
Uses cardiac markers as cardiac involvement biggest predictor of death
Troponin T ≥ 0.025 ng/mL or Troponin I ≥ 0.1 ng/mL
NT-proBNP ≥ 1800 ng/L
serum free light chain ≥ 18 mg/dL
What medication can be given to patients with ATTR amyloidosis? (Newer drugs)
Tafamidis (stabilizes ATTR and prevents breakdown into amyloid proteins, FDA-approved, guideline-recommended therapy that reduces mortality and cardiovascular hospitalization)
Patisiran and inotersen, (reduces hepatic production of transthyretin, indicated for ATTR polyneuropathy and may have benefit for ATTR cardiomyopathy)
What is the most common form of amyloidosis in developed countries and what is it associated with?
Light chain (AL Amyloidosis), associated with multiple myeloma or other plasma cell dyscrasias
Plasma cells dumping λ or κ light chains which deposits everywhere in the body