A Conversation with Dr. Johana Fajardo

Dr. Johana Fajardo, DNP, ANP, is a nurse practitioner specializing in heart failure and director of the left ventricular assist device (LVAD) Quality of Life Program.

Dr. Fajardo has treated general amyloidosis patients for nearly a decade, helping many to survive and even thrive in spite of their condition. Most recently, Dr. Fajardo collaborated with Dr. Daniel Judge to establish an on-site Amyloidosis Center that will leverage the latest in technology and resources. “It allows patients to receive state of the art care by providers who have dedicated their research and clinical work to diagnose and manage the disease,” she explained. “We’re here to promote survival and quality of life.”

What is ATTR-CM?

ATTR-CM falls under the umbrella of amyloidosis. A protein called transthyretin, or TTR, which is produced in the liver, begins to “act up” by breaking apart, misfolding, and building amyloid fibrils that then travel and attach to different organs like the heart and the nerves. There are two different types: wild-type and hereditary. 

What causes wild-type ATTR-CM, and how is it different from hereditary ATTR-CM?

We know wild type appears mostly in Caucasian men in their 60s, but we don’t know the exact pathology. Because patients with wild-type ATTR-CM are older, they often have more comorbidities, so it can be more debilitating. Hereditary ATTR-CM is passed down from a relative and is caused by a gene mutation. The most common mutation associated with hereditary ATTR-CM in the US, V122I, is found almost exclusively in African Americans, although not all individuals with the V122I mutation develop symptoms of hereditary ATTR-CM. Genetic testing can be used to distinguish between hereditary and wild-type ATTR-CM.

How would somebody know to ask their health care professional about ATTR-CM? What are the symptoms?

In adults, ATTR-CM has several red-flag symptoms that involve many body systems, and it mimics other conditions, so diagnosing it can be difficult. For example, it often causes blood pressure to drop, so people who once took hypertension medications may suddenly become hypotensive. That’s a clue that something is wrong. 

They can also develop other problems, such as carpal tunnel syndrome in both hands, as most people just develop carpal tunnel in their dominant hand; and if diagnosed with heart failure, patients may not be able to tolerate the standard heart failure medications. 

Why don’t medications that treat heart failure work for ATTR-CM? 

ATTR-CM patients may not be able to tolerate the traditional medications used to treat heart failure such as ACE inhibitors, beta blockers, and calcium channel blockers, because they tend to lower blood pressure, and ATTR-CM patients often already have low blood pressure. In patients with specific conditions such as irregular heartbeat, we have to use medications to slow their heart rates down but as the disease progresses, their heart rate drops, and we are forced to stop using certain blood pressure medications. 

How is ATTR-CM treated?

Two years ago, there were no treatments, other than organ transplants (heart and/or liver). However, in 2019, an FDA-approved treatment option became available.

How important is early diagnosis and treatment?

Appropriate diagnosis is super important, so we can consider initiating medication for appropriate patients to help slow progression of amyloid build up. Once the protein starts distributing throughout the body to different organs, it cannot be reversed. And once it travels to the heart, it becomes stiff and people develop heart failure, which can lead to the accumulation of fluid and arrhythmias. As a result, their quality of life and overall prognosis is very poor.

What’s the prognosis for somebody diagnosed with ATTR-CM today vs. 10 or 15 years ago?

Although ATTR-CM is a very serious disease, there are available treatments to help slow the progression. We can help patients manage their symptoms. It’s important to put that out there. We still have a lot of work to do, but it’s important for people to know that there’s hope.