New Developments in Treatment and Awareness of Amyloidosis

Amyloidosis is a rare disease that has gone without awareness for a long time. This lack of awareness led to slow developments in treatment, issues with obtaining a diagnosis, and a struggle for those affected. A recent influx in awareness has resulted in multiple advances in treatments for this disease. These new therapies are providing viable treatments for more people than ever before, but with new developments come new issues. The main problem of these therapies is the cost. People are asking: what is the point of these new treatments if nobody can afford them?

About Amyloidosis

Amyloidosis is characterized by stiff organs that have issues with function. These problems are caused by an accumulation of a protein, called amyloids, in the organs. The buildups form deposits. There are multiple forms of this disease, and they can influence the symptoms and treatment that one experiences.

Symptoms can vary between individuals; they depend on which organ is affected. If the heart experiences the accumulation of amyloids, symptoms will include nausea, weight loss, insomnia, fatigue, dizziness, shortness of breath, leg swelling, palpitations, and chest pains. If the nervous system is affected, symptoms are peripheral neuropathy, sensorimotor impairment, and autonomic neuropathy. Buildups in the digestive tract cause nausea, diarrhea, constipation, issues with bladder control, weight loss, and a loss of appetite. An accumulation in the kidneys will cause nephrotic syndrome, renal issues, and swelling in the arms, legs, lungs, and abdomen.

The form of amyloidosis can influence the cause. It can be caused by another disease, mutated genes, dialysis, or have no known cause at all. Regardless of the cause, the main diagnostic techniques are blood tests, urine tests, and biopsies. A diagnosis will be confirmed through a protein sequence analysis or DNA sequencing. After it is confirmed to be amyloidosis, treatment is symptomatic.

Diagnosing Amyloidosis

The increase in awareness of amyloidosis has also helped doctors to recognize some of the trends that this disease presents, which helps with diagnosis. A characteristic symptom of cardiac amyloidosis has been discovered: the right ventricular wall becomes thicker than the rest of the heart. Other cardiac symptoms that have been associated with this disease are thickened mitral and tricuspid valves, biatrial enlargement, small pericardial effusion, and reduced global longitudinal strain. The recognition of these signs have helped doctors to diagnose cardiac amyloidosis.

These advances in diagnosis are helpful, as it is often very difficult to obtain a diagnosis of amyloidosis. Many people live with this disease for years without doctors noticing it, which holds them back from receiving the proper treatment. People will also be misdiagnosed, which could result in the wrong treatment. Common misdiagnoses are heart disease and hypertrophic cardiomyopathy. Despite advances in diagnostic techniques, this disease still goes unnoticed for a scary percentage of those affected.

New Treatments for Amyloidosis

The most recent advance in treatment is tafamidis, which was studied in ATTR-ACT study. This study was a placebo-controlled, 30 month long trial that included 441 participants. The results, which were published in the New England Journal of Medicine, showed that tafamidis reduced the risk of mortality and hospitalization. It also helped to maintain the quality of life of those with amyloidosis. These results led to the approval of this drug and other variations of it in 2019.

Tafamidis is not alone in its status as a new treatment for amyloidosis. Inotersen, patisiran, RNA inhibitors, stabilizers, and monoclonal antibodies are all being developed. Researchers hope that these treatments will have positive results like the ATTR-ACT study.

The Cost of Treatment

While many are excited by these new developments in treatment, there have been some loud criticisms about the price. For example, tafamidis is priced at $225,000 per year, a price that the majority of people cannot afford. Other new drugs cost even more, priced around $450,000. Both doctors and patients have shown their disdain for the high cost.

These prices incredibly difficult to pay and they cause anxiety for patients. Bills are already stressful enough, and they become even more worrisome when they impact one’s health. This is true especially for those who are on Medicare.

Many pharmaceutical companies understand the worries over the pricing and have created programs to make these treatments more accessible. There are copay assistance programs and pre-medicines programs for those who lack the insurance or money to pay for their treatment.

While there are issues with the pricing of these treatments, the advances are positive nonetheless. Many now have viable treatment options that did not previously exist for them, and many are receiving diagnoses. Medical professionals hope that these developments continue.

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