ROLE OF THE NURSE NAVIGATOR IN AMYLOIDOSIS CARE

Role of the Nurse Navigator in Amyloidosis Care

Speaker: Elizabeth Brandes

Clinical Pearls:

Lessons in this section:

Basic Concepts, Amyloid Light Chain, Amyloid Transthyretin: Chris Bell ACNP

Genetic Counseling in ATTR - Emily Brown

Clinical Pearls

• Amyloid = starching substance, protein found in the body
• Three subtypes of cardiac amyloidosis: AL, ATTR hereditary, and ATTR Wild Type
• Red Flag Symptoms of cardiac amyloidosis: Left Ventricular Hypertrophy seen in echo, EKG with voltage disproportionate to LVH, refractory arrhythmia, Low flow AS, Bilateral carpal tunnel release and/or spinal stenosis, motor/sensory polyneuropathy
• AL – blood dyscrasia of plasma cells, closely related to, but distinct from multiple myeloma
• Untreated, medical survival from the onset of heart failure symptoms is less than 6 months in AL
• TTR is involved in the transport of Thyroxine and Vitamin A and it is produced in the liver
• TTR tetramer breaks apart into monometers that misfold and aggregate together
• TTR Wild Type – develops with age – acquired, where normal TTR destabilize
• Hereditary TTR- due to a genetic mutation in the TTR gene that leads to abnormal TTR protein
• It is important to do SPECT with PYP scan to rule out blood pooling of the dye – mistakenly diagnosing ATTR
• Genetic Counseling is Absolutely critical for the diagnosis of ATTR hereditary – it has consequences for generations

• ATTR hereditary is genetic -Inheritance pattern of mutation: Autosomal Dominant (one of the 2 alleles of the TTR gene carries a mutation)
  All first-degree relatives carry a 50% chance of carrying the mutation and develop the condition
• Homozygous or compound heterozygous – mutation on both alleles
• Certain presentations (phenotypes) are correlated to certain mutations (genotypes) – some could have cardiac presentation, neuro presentation, or both
• Reduced penetrance – not everyone that carries the mutation will develop the disease
• Genetic testing should be done after TTR has been diagnosed
• Genetic testing is recommended even when Mass Spectrometry done on a tissue (biopsy) and it has identified a mutation or not as mass spec can miss mutations and cannot differentiate between heterozygous and homozygous
• Implications of a positive result – subtyping of ATTR, Eligibility for medications or clinical trial participation
• When to start testing is based on age and specific mutation as some present earlier vs later in life
• A positive genetic test does not mean that the patient will go on and develop the disease
• Role of genetic counselor: Explaining test results, discussing psychosocial implications, discussed results with and providing resources
• Pre-symptomatic genetic testing – survival’s guilt, anxiety if positive result, etc
• GINA – Genetic information non-discrimination act – protects against health insurance companies or employers based on a genetic test result but does NOT include life insurance or long- term disability insurance policies – discuss these before genetic testing
• Patient tools – patient handouts
• Mutations are like “misspelling” words in our DNA
• Amyloidosis Support Groups Association and Amyloidosis Research Consortium are important resources for patients and families with Amyloidosis

Diagnostic Process & Pitfalls

Role of the Nurse Nav Intro & Take-Home Points

Diagnostic Testing for AL

Diagnostic Testing for ATTR

Disease Modifying Therapies

Therapies for AL

Diagnostic Process & Pitfalls Infiltrative Cardiomyopathy: AL Cardiac Amyloidosis - Dr. Ajay Kadakkal, MD FACC

Clinical Pearls
-Amyloidosis should be considered in all patients with increased LV wall thickness on echocardiogram
-Pattern recognition: this helps to identify “red flag” symptoms of amyloidosis
-Echocardiogram, EKG, and clinical history can provide diagnostic clues
-When amyloidosis is suspected, diagnosis starts with serum and urine immunofixation plus serum free light chains to look for a monoclonal gammopathy
-Cardiac MRI provides both diagnostic and prognostic information, based on the presence/absence of late gadolinium enhancement
-When a monoclonal gammopathy is identified, collaboration with hematology is key and patients will need a biopsy of the affected organ to make a diagnosis
-When there is no monoclonal gammopathy, technetium pyrophosphate (PYP) scan can be used for diagnosis if performed correctly
-TTR amyloidosis has an insidious onset, while AL patients tend to “fall off a cliff”
-Genetic counseling and testing are needed for accurate diagnosis of TTR subtype even in patients with a biopsy confirming the diagnosis
-Significant advances in treatment make early diagnosis and treatment essential

SYMPTOM MANAGEMENT & ADVANCED THERAPIES IN CARDIAC AMYLOIDOSIS

Speaker: Cynthia Bither CRNP

Clinical Pearls:
-Amyloidosis is a restrictive cardiomyopathy, meaning patients have a narrow window of euvolemia
-Volume management is challenging; daily weights might not present the full picture and edema can be multifactorial
-Traditional GDMT is not used in patients with amyloidosis and beta blockers should be avoided
-Home management is helpful: home blood pressures, visiting nurses, and even home IV diuretics may prevent hospitalizations
-Orthostatic hypotension is common and can be severe
-Medical and nonmedical treatments for orthostatic hypotension can be used: midodrine, support hose, recumbent exercise, small frequent meals
-High risk of stroke in patients with amyloid: consider routine ambulatory monitoring, AC regardless of CHADS-VASC
-Atrial arrhythmias with RVR are poorly tolerated and there is a high risk of recurrence even after ablation
-High risk of sudden cardiac death, esp in patients with documented NSVT; may benefit from ICDs outside of typical guideline recommendations
-Due to advances in treatment, advanced therapies including heart transplant may be an option for patients with cardiac amyloidosis
-Non-cardiac organ involvement and/or frailty may limit use of advanced therapies; multi-disciplinary evaluation is required
-Mechanical circulatory support, including VAD, are rarely successful in patients with cardiac amyloidosis. Inotropes may be beneficial even for patients with advanced disease.
-Palliative care referral is appropriate early in treatment course given the need for symptom management and goals of care

Neuro Amyloidosis Involvement
Speaker: Hannia Ramos

Pharmacologic Therapies
Speaker: Jocelyn McAdoo

Clinical Pearls

• Multidisciplinary holistic team approach to Amyloidosis is essential to patient care
• The Multidisciplinary team includes nurses, physicians, and advanced practice providers across a wide range of specialites
• The Amyloidosis Nurse Navigator may provide guidance to bridge a communication gap
• Amyloidosis Nurse Navigators provide education, triage phone calls, monitors labs/test results, and act as liaison between providers and patients/families