Cardiac Amyloidosis: Symptoms, Diagnosis & New Treatments

For years, cardiac transthyretin amyloidosis (ATTR-CM) has been a largely overlooked and underdiagnosed condition. However, growing scientific evidence suggests this serious disease is more prevalent than previously believed, impacting thousands and potentially leading to delayed diagnoses and poorer outcomes.

Many patients live with the disease unknowingly, while others endure a frustrating journey seeking answers for worsening symptoms, often consulting multiple doctors without a clear diagnosis. The condition arises when transthyretin, a protein normally produced by the liver, misfolds and forms amyloid deposits that accumulate in the heart. These deposits stiffen the heart muscle, hindering its ability to effectively pump blood, ultimately leading to heart failure, arrhythmias, and progressive heart weakness.

Who is Affected?

ATTR-CM manifests primarily in two forms. The most common is the “wild-type” form, typically appearing in individuals over the age of 70. The other form is hereditary, caused by a genetic mutation. “These patients present symptoms earlier, starting at ages 40 and 50,” explains a cardiologist. While the disease can affect both men and women, it is observed more frequently in men. Notably, individuals of African descent appear to be at a higher risk of developing the hereditary form.

Recognizing the Symptoms

One of the biggest challenges in diagnosing ATTR-CM is the similarity of its initial symptoms to those of more common conditions. Persistent fatigue, tiredness, difficulty breathing, heart failure, atrial fibrillation, and valve problems like aortic stenosis can all mask the underlying cause, making diagnosis difficult. It’s estimated that patients may consult up to three doctors and experience a delay of up to three years before receiving an accurate diagnosis.

Beyond cardiac symptoms, certain signs outside the heart can raise suspicion. These include bilateral carpal tunnel syndrome, kidney problems, and neuropathies. Recognizing these seemingly unrelated symptoms is crucial for prompting further investigation.

An Underdiagnosed Disease

The prevalence of wild-type transthyretin amyloidosis in the United States is estimated to be between 155 and 191 cases per million people. However, this number is likely an underestimate due to underdiagnosis. One cardiologist, upon returning to Puerto Rico a year and a half ago, identified more than ten patients with the disease – a number many physicians may not encounter in their entire careers.

This increased identification is a result of more aggressive screening for the condition. “I am actively looking for this condition more aggressively because it is known that We find more patients than we believe, than previously thought,” the cardiologist stated, emphasizing the historical lack of awareness surrounding the disease.

Historically, the disease has been underdiagnosed, in part, due to a lack of consideration. “Many times, we don’t think about it. If a patient has heart failure, we don’t always look for the reason,” the cardiologist explained.

The Importance of Timely Diagnosis

Identifying ATTR-CM promptly is critical. Without treatment, a patient’s life expectancy can be reduced to as little as five years after the onset of symptoms. While current treatments do not offer a cure, they can effectively halt disease progression. “The earlier it is diagnosed, the faster we stop it from progressing,” the cardiologist emphasized.

New therapies, such as those offered by Pfizer, are stabilizing the transthyretin protein, preventing it from misfolding and accumulating in the heart and other organs. Without intervention, the disease will inevitably progress, leading to cardiovascular complications and, death.

The impact of amyloidosis extends beyond the physical realm, causing significant mental and emotional distress for patients and their families. “One of the saddest things is that the patient continues to be frustrated because he continues to think that there is nothing and he continues with the deterioration, which is continuous,” the cardiologist acknowledged.

A Call for Increased Awareness

Raising awareness about ATTR-CM is paramount. Effective management of this complex disease requires collaboration between cardiologists, hematologists, and other specialists. “This pathology exists. If the patient has symptoms and it has not been possible to reach a diagnosis, do not think that there is nothing, keep looking and listen for the possibility of this disease, which is more common than is believed,” the cardiologist urged.

If symptoms persist and remain unexplained, seeking a second opinion and exploring the possibility of ATTR-CM is crucial. Early diagnosis and treatment can significantly improve outcomes and quality of life for those affected by this often-silent and deadly disease.