Treatment of cardiac amyloidosis is most effective when all 3 aspects (amyloid type, heart involvement stage and daily symptoms) are managed in unison.
Late diagnosis of cardiac amyloidosis is often made after several months of developing symptoms such as breathlessness, swollen ankles, tiredness and repeated episodes of heart failure, which do not follow the expected clinical course. The Comprehensive Guide to the Treatment of Cardiac Amyloidosis for patients, carers and recently diagnosed young adults outlines the principal treatment strategies, things to ask about and why early specialist input is essential.
Alzheimer’s-related amyloid can form abnormal proteins that can penetrate heart tissue and cause it to become stiff. The treatment for this condition is not one-size-fits-all and first must identify the type of amyloid that is present in the heart tissue. Based on the type of protein that has penetrated the heart tissue, treatment is then determined based on the heart, kidney, and overall quality of life of the patient, as well as any abnormal heart rhythms that are present and the overall functional capacity of the patient’s heart, and how they are affecting the patient’s daily activities.
A useful treatment plan is based on more than just the medication to be given. There are two main cardiac forms of amyloidosis: transthyretin amyloidosis (ATTR) and light-chain (AL) amyloidosis. There are two forms of ATTR (hereditary and wild-type age-related), and AL amyloidosis is caused by abnormal plasma cells in the bone marrow, which can develop rapidly.
I know of cardiac amyloidosis step2 material that details classic clues for diagnosis. In real clinics, however, many other conditions can be present, masking the true cause of heart failure; for example, a patient with atrial fibrillation, kidney disease, spinal stenosis, and slight edema for years before the connection is finally made.
| Type | Main treatment target | Typical urgency |
|---|---|---|
| ATTR | Stabilise or reduce transthyretin protein | Prompt, based on stage and symptoms |
| AL | Stop abnormal light-chain production | Urgent, often within days to weeks |
Identifying cases early can mean treating them at a time when the heart has become stiff, and blood pressure has fallen, but before there are few treatments left that can tolerate to keep the patient out of hospital. Such persistent symptoms need a focused review, particularly in those over 60 years of age and those with a family history of the transthyretin diseases.
A diagnosis of amyloid cardiomyopathy can be made when the heart is found to be thickened on echocardiogram, but the ECG signal is small for apparent reasons. Other signs and symptoms of amyloid disease, including protein in the urine, numbness of the feet, rupture of the biceps tendon, and prior need for carpal tunnel release of both wrists, can be present for years before development of heart failure.
Workup for AL amyloidosis typically starts with a screen of blood and urine for free light chains and monoclonal proteins. If AL amyloidosis is in the differential diagnosis, then imaging studies such as echocardiography with strain, cardiac MRI, and a nuclear study (e.g., PYP, DPD, HMDP, depending on location and availability) are obtained.
For the exam: Cardiac amyloidosis – step 2. But proof is needed for a diagnosis. Thus, if the light-chain tests are abnormal, a biopsy is needed to define the type of amyloid by mass spectrometry or by specialized staining. Genetic testing is recommended in case of a diagnosis of ATTR, because of the hereditary variants and the consequences for relatives and for counseling.
Treating all cardiac amyloid as heart failure of usual type and using, for example, beta blockers, ACE inhibitors, ARBs or mineralocorticoid receptor antagonists in individual cases. Patients with cardiac amyloid often have low blood pressure and are not tolerant of drugs. Thus, in many cases, diuretics are the main tool for controlling symptoms on a day-to-day basis, and their use must be carefully controlled to avoid causing dehydration and damage to the kidneys.
Management is often a multidisciplinary team of cardiology, haematology, neurology and nephrology with occasional input from a specialist amyloidosis centre. Therefore, it is advisable to bring a copy of the current medications, including all the supplements that the patient is taking, on a visit to a doctor's clinic. Small changes can have a significant impact as the stiff heart of amyloid is extremely dependent on achieving a stable amount of fluid in the circulation and a stable heart rate.
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Treatment for ATTR cardiomyopathy focuses on preventing transthyretin from dissociating and forming amyloid fibrils. Tafamidis is proven to reduce mortality and cardiovascular hospitalization in a selected group of patients. The greatest benefit is derived from early initiation of therapy before end-organ damage has occurred. Gene-silencing therapies may also be considered on a case-by-case basis, depending on local guidelines and approval status, and degree of nerve involvement.
Acoramidis (Attruby in the US) is a transthyretin stabilizer used to treat adults with ATTR cardiomyopathy. Those researching the Attruby efficacy in treating disease are encouraged to ask their doctor and/or other healthcare professionals about specific trials, expected benefits, potential side effects, availability of the Attruby drug, as well as whether the stage of disease of the patient matches the specific population that was studied. Other resources to seek out for treatment of ATTR cardiomyopathy and assistance with Attruby, such as coverage, education, etc., are patient support options.
The strategy for treating AL cardiac amyloidosis is similar to that for a plasma-cell disorder. Given that toxic light chains can cause rapid heart injury, treatment regimens can be composed of various combinations of drugs, including daratumumab, bortezomib, cyclophosphamide, and dexamethasone, with dosing tailored to a patient’s level of frailty, degree of kidney dysfunction, and low blood pressure. Some patients may even be candidates for an autologous stem cell transplant.
Monitoring of response to treatment is based on parameters such as levels of abnormal light chains, NT-proBNP, troponin, and other markers of organ damage. In addition, symptoms and exercise tolerance are recorded. There is a need for a rapid decline in abnormal light chains within the first 1-3 months in order to prevent permanent organ damage. Thus, AL referrals should be handled faster than routine referrals for cardiology.
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Control of symptoms: this is very practical and sometimes ‘unglamorous’. Salt intake, daily weights, timing of diuretics, vaccination, monitoring of rhythms, fall prevention. Patients are worse with dehydration, with large meals, with alcohol, and with the diuretic dose that is missed. A two-pound overnight weight gain or a five-pound weight gain in a week must trigger a call from patients if a certain threshold was given by their care team.
Blood thinners are very commonly prescribed for patients with atrial fibrillation as they have the potential to form blood clots even though their heart rhythm may appear to be intermittently irregular. Whether or not to implant a pacemaker or defibrillator for conduction disease or selected arrhythmias is generally a very individual decision. Exercise, when cleared by the physician, is gentle and consistent rather than a very demanding program, i.e., walking for exercise or a supervised cardiac rehab program with light resistance for selected exercises.
It is simple to keep a log to record your weight, blood pressure, pulse, swelling, breathlessness, dizziness, and the dose of your diuretics. Bringing this to your appointments will help to show any patterns that have developed over two weeks. This will often tell more about your health and any symptoms that you are experiencing than a single reading in the clinic.
There are many different types of amyloid and many different stages of disease. Therefore, it is useful to write down the specific amyloid type, genetic test results, disease stage, and treatment goals when comparing and deciding between different treatment options. For ATTR patients asking about the efficacy of attruby (tumarizumab), it is not enough to ask whether it is strong. Instead, patients should ask how much benefit was shown in people like them, over what time frame, with what type of monitoring. Also, if cost becomes an issue, ask whether attruby is covered through forging bridges or another assistance pathway.
This comprehensive guide to cardiac amyloidosis treatment focuses on matching a treatment to the specific type of amyloid before the heart’s reserves are depleted. For the treatment of patients with ATTR amyloidosis, the main goal is to stabilize the transthyretin molecule. For patients with AL amyloidosis, fast treatment of the plasma cells that are producing the offending protein and monitoring of all organs for signs of deterioration are mainstays of care.
While not curable, cardiac amyloidosis can be managed. The outcomes of patients with cardiac amyloidosis are variable and largely determined by the type of amyloidosis and the stage of disease at presentation. Patients with AL amyloidosis can at times achieve deep and durable remission of disease in the blood, whereas the current therapies for ATTR are primarily aimed at slowing disease progression.
Early treatment is critical in the case of AL amyloidosis, which can rapidly deteriorate organs in a matter of weeks. Although the need for treatment for ATTR amyloidosis on a day-to-day basis is less urgent, earlier treatment is associated with improved long-term outcomes.
Heart failure medications are used cautiously, as many patients develop hypotension or develop a “stiff heart” and have poor tolerance of these typical heart failure medications. Diuretics are often the “symptom” medication for patients with heart failure. Clinicians will often consider reducing or discontinuing these typical heart failure medications as patients develop dizziness, changes in kidney function, or fatigue.
Family members can be tested for hereditary forms of ATTR that are found by genetic testing. If a pathogenic variant is found in a family member, then adult relatives can receive genetic counseling and can be tested for the variant. However, as AL amyloidosis is not an inherited condition, family members would not receive screening for this form of amyloidosis.
