Latest news with #amyloidosis
Medscape
02-07-2025
- Health
- Medscape
Fast Five Quiz: Transthyretin Amyloid Cardiomyopathy Management
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a type of systemic amyloidosis that causes restrictive cardiomyopathy and can affect the peripheral and autonomic nervous systems. After diagnosis, patients should be referred to consultation with cardiologists as well as other specialists to develop a treatment plan based on their symptoms. Because this condition can affect several different organ systems, disease management requires a multidisciplinary approach. Are you up to date on your understanding of ATTR-CM management ? Test your knowledge with this quick quiz. ATTRwt, the more common type of ATTR-CM, usually occurs as a function of age, whereas hATTR usually occurs as a result of TTR mutations. Several siRNA agents and ASOs are available to treat polyneuropathy associated with either type. Liver transplantation, which removes mutant TTR from the blood, has been used to treat hATTR, but the development of newer medications has reduced the need for transplant. Patients with ATTR-CM should be treated with interventions that address all their symptoms, including heart failure, arrhythmias, conduction system disorders, and extracardiac manifestations. Learn more about treatment considerations for hATTR and ATTR-CM. Volume management is an essential element of cardiac amyloidosis treatment, especially if heart failure symptoms are present. In patients with ATTR-CM and heart failure symptoms, loop diuretics are used to maintain euvolemia. Because diuretics can reduce preload, blood pressure should be carefully monitored to prevent adverse effects on renal perfusion and cardiac output. Renin-angiotensin system inhibitors can exert vasodilative effects and have been shown to cause hypertension in this setting. Beta-adrenoceptor blockers have been shown to exert negative chronotropic effects and can worsen symptoms of heart failure Cardiac glycosides, such as digoxin, are usually not recommended in patients with ATTR-CM. Learn more about treating cardiac involvement in ATTR-CM. Transthyretin stabilizers, including tafamidis, vutrisiran, and acoramidis, are approved to treat cardiomyopathy in both hATTR and ATTR-CM in adults. They work to reduce cardiovascular mortality and cardiovascular-related hospitalization. However, they have not been shown to reverse existing damage. Clinical trials have demonstrated that this medication class significantly reduced all-cause mortality and lowered hospitalization rates in addition to slowing disease progression. This medication class was also generally well tolerated in most patients with minor side effects, including urinary tract infection. Clinical data also showed that starting this medication class earlier in the disease course might provide improved long-term outcomes. Learn more about transthyretin stabilizers for ATTR-CM. OH is defined as a reduction of ≥ 20 mm Hg in systolic blood pressure or 10 mm Hg in diastolic blood pressure within 3 minutes of standing or upright tilt; further, it is a common complication of ATTR-CM. Nonpharmacologic management of OH can include compression stockings (which can produce ≥ 15-20 mm Hg of pressure) and elastic abdominal binders. Reduced fluid intake has been shown to worsen OH but specifics regarding intake amount in the setting of ATTR-CM can be individualized according to the patient. Though magnesium supplementation has been shown to help manage blood pressure in certain cases, there is limited evidence regarding its role in the treatment of OH associated with ATTR-CM. Evidence regarding vitamin D supplementation in this setting is also limited. Learn more about managing different conditions associated with ATTR-CM. siRNAs and ASOs, considered to be TTR ' silencers,'work in similar ways to 'knock down' the production of TTR in the liver. Their mechanism of action involves targeting TTR mRNA for degradation. This prevents it from being translated, reducing the amount of TTR protein in circulation and disables retinol (vitamin A) transport. TTR stabilizers bind thyroxine 4 into one of two transthoracic echocardiography interdimeric binding pockets. This prevents dissociation into amyloidogenic TTR monomers and oligomers, thereby increasing the stability of the tetramer. Learn more about how different medications treat ATTR-CM. Editor's Note: This article was created using several editorial tools, including generative AI models, as part of the process. Human review and editing of this content were performed prior to publication.
Medscape
17-06-2025
- Health
- Medscape
Fast Five Quiz: ATTR-CM Presentation and Diagnosis
Transthyretin amyloid cardiomyopathy (ATTR-CM) presents with a diverse range of symptoms involving the cardiovascular and peripheral systems. The clinical manifestations of ATR-CM are typically related to the location of amyloid fibrils in various tissues. In individuals with hereditary transthyretin amyloid, the type of TTR mutation also influences the presentation. Owing to the heterogeneity of presentation, diagnosis might be delayed for several years after symptom onset. In addition, the true prevalence of the disease is unknown because many cases go undiagnosed and patients are also often misdiagnosed with more common conditions. Are you up to date on your understanding of ATTR-CM presentation and diagnosis? Test your knowledge with a quick quiz. ATTR-CM can affect several organ systems outside of the heart and periphery, disrupting gastrointestinal, genitourinary, auditory, and vision functions. Ocular manifestations (usually caused by vitreous deposits) include conjunctivitis, dry eye, floaters, reduced visual acuity, and eye pain. Regarding other extracardiac manifestations, neuropathic pain, a consequence of deposits in the peripheral nerves, can result in weakness and impaired sensation, as well as autonomic dysfunction that manifests as sexual or urinary dysfunction. Cardiac manifestations of ATTR-CM can include symptoms associated with chronic heart failure, such as dyspnea on exertion and peripheral edema, and arrythmias (such as syncope). Learn more about the clinical presentation of ATTR-CM. Echocardiography can reveal signs of amyloid deposition within the heart. Characteristic imaging findings can include increased ventricular wall thickness, increased septal thickness, valvular thickening, valvular insufficiency, and atrial enlargement. The myocardium might also appear to have a granular "sparkling" appearance, as indicated by bright spots in the image. Although this sign alone is not sufficient to confirm a diagnosis, it is suggestive of ATTR-CM and can help with diagnosis. Thinning of the valvular walls and reduced septal thickness are usually not indicative of cardiac amyloid deposition. Though increased diastolic volume might be seen in patients with cardiac amyloid deposition, this factor alone is not definitive. Specifically, a common presentation of cardiac amyloidosis is ' rapidly progressive diastolic dysfunction in a nondilated ventricle.' Learn more about cardiac imaging in AT TR-CM. Patients who exhibit possible signs of cardiac amyloidosis should be screened using electrophysiology and imaging to detect any abnormalities due to amyloid deposits. If those results are suggestive of cardiac amyloidosis, additional tests must be ordered to determine the amyloidosis type. The first step in the differential diagnostic pathway includes testing for the presence of monoclonal proteins. A serum/kappa lambda free light chain ratio of < 0.26 or > 1.65 or an abnormal serum/urine immunofixation electrophoresis can indicate amyloid light chain amyloidosis, but alone these factors are usually not definitive for ATTR-CM diagnosis. However, absence of monoclonal proteins and grade 2/3 uptake of 99mTc-pyrophosphate highly indicate AT TR-CM; these factors can be used for diagnosis. TTR mutation does not need to be present for ATTR-CM diagnosis and alone does not strongly indicate this disease; rather, genetic testing for TTR mutations should be conducted to distinguish between hereditary and wild-type ATTR-CM following diagnosis. Learn more about conducting a workup for ATTR-CM. Many neurologic symptoms associated with ATTR-CM overlap with those of other conditions, including Charcot-Marie-Tooth disease. Peripheral neuropathy is a common neurologic symptom of ATTR-CM. Other neurologic symptoms can include autonomic dysfunction, gastroparesis, orthostatic hypotension, erectile dysfunction, and urinary incontinence. As such, ATTR-CM might also be misdiagnosed as other hereditary motor and sensory neuropathies, such as Refsum disease. Therefore, these conditions should be included in a differential diagnosis in patients presenting with neurologic symptoms. Though some with ATTR-CM might experience seizures (usually in cases of patients with leptomeningeal amyloidosis), they are not common. Muscle weakness usually occurs distally in patients with ATTR-CM. Sudden onset of sensory impairment is less common in patients with ATTR-CM and is more characteristic of transthyretin amyloid polyneuropathy. Learn more about performing a differential diagnosis of ATTR-CM. Subcutaneous fat aspiration, which is most commonly used for tissue biopsy, can be sufficient for amyloid detection. While biopsy of samples from organs directly involved in ATTR-CM can be advantageous because sensitivity is reportedly higher, subcutaneous fat aspiration is a less invasive method that can be helpful in diagnosis. However, if tissue biopsy is negative in a patient with a high clinical suspicion of ATTR-CM, or if cardiac scintigraphy is unavailable or negative, endomyocardial biopsy should be performed. It is often used to confirm ATTR-CM diagnosis, along with other forms of cardiac amyloidosis. Learn more about approach considerations for ATTR-CM evaluation.
