‘Profound’ Loss Voiced by People With FAP, hATTR Amyloidosis in Interview Study

Marisa Wexler MS avatar

by Marisa Wexler MS |

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People living with hereditary transthyretin (hATTR) amyloidosis — which includes familial amyloid polyneuropathy (FAP) — report “profound” life changes due to their disease, particularly as it progresses and affects them physically, emotionally, and socially, a study based on patient interviews reported.

These findings emphasize the need for better care of those with hATTR amyloidosis, its researchers said.

The study, “Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being,” was published in the Journal of Patient-Reported OutcomesIt was funded by Akcea Therapeutics, the developer of Tegsedi (inotersen), a FAP treatment.

hATTR amyloidosis is caused by mutations that affect transthyretin, leading this protein to misfold and form deposits that disrupt organ function. FAP is a form of hATTR amyloidosis predominantly characterized by symptoms of nerve damage.

Although the variety of hATTR amyloidosis symptoms can affect patients’ lives in a multitude of ways, research into their experiences is limited, and that which exists often draws on standardized surveys, the study noted.

Researchers with Akcea and other institutions conducted semi-structured interviews with 14 hATTR amyloidosis patients to better understand their lived experiences with the disease.

“Qualitative interview methods allow for a deep exploration of how patients are affected by symptoms and impacts of the disease in ways that go beyond the limitations of multiple-choice responses used in quantitative survey studies,” the team wrote.

People selected ranged in age from 20 to 76; just over half were male. Most were white (93%) and held at least a four-year college degree (79%). All had symptoms of nerve damage; eight also had cardiac symptoms. Eight of these patients could walk unassisted; the rest either required assistance or could not walk.

Each interview lasted about an hour, and all but two were conducted via a phone call. The researchers analyzed the interviews, highlighting themes that were commonly discussed.

The interviewees collectively described a total of 33 hATTR-associated symptoms. Among the most common were pain, numbness, and fatigue, each of which was reported by 86% of these patients.

Other common symptoms included weakness, gut-related symptoms (e.g., constipation and diarrhea), cognitive issues (e.g., memory loss and trouble speaking), and paresthesia (e.g., tingling in the limbs). All said that the effects of their disease had worsened over time.

The patients described a variety of ways in which these symptoms affected their physical functioning, commonly making it difficult to hold things with their hands or to move around. Often, these physical impairments led to interviewees feeling limited in what they could do, and changed interpersonal relationships.

“If I drop something, it takes a long time for me to bend over slowly to pick it up, and then I ask my daughter ‘Oh, could you pick up that for me?’ … [and she replies] ‘Well, why don’t you do it yourself? You look healthy.’ … I keep reminding [her], ‘Honey, I cannot do things’ … I can’t open jars. My fingers [and] thumbs don’t work. I’ve got butterfingers. I drop things,” one interviewee said.

An emotional toll was also evident — many interviewees expressed feelings of frustration, disappointment, and sadness related to their disease.

“I get depressed because I can’t do anything like I did before. My life [has] changed completely around,” one patient said.

Many of the interviewees had seen the disease affect parents or family members, giving rise to fear and anxiety about how it would affect them.

“I knew what my dad had dealt with. And it was horrific … So yes, it was pretty bleak [when I was diagnosed],” said one interviewee.

The disease also took a toll on patients’ social life. Interviewees commonly described feeling unable to engage in social events — including things they had previously found enjoyable — leading to feelings of isolation.

“My friends, we used to be very active. We like to kayak, we like to swim, we like go to down to the river and hang out. And some days, I just, I can’t,” said one interviewee.

“I [used to] coach basketball. And now I can’t. And there’s five [of my grandchildren] starting to play basketball, and I wanted to be able to show them things. Things like [that] really bother me,” said another.

Activities of daily living also were impacted; many interviewees described difficulty dressing, bathing, using the bathroom independently, driving, and doing household chores. Many also said that the disease had interfered with their ability to work.

“I could not work. I went from being fully capable to having to hide because of this disability,” said one patient.

Another, who required help from a caregiver at home because of more limited hand use, said, “You think about all of the things you use your hands for … I mean there are some things that I figured out work-arounds [for], but most things, most activities of daily living I need help with.”

Collectively, these responses point to hATTR amyloidosis having a major impacts on patients’ lives, highlighting the need for early and effective clinical interventions that can preserve  their ability to function and maximize their well-being, the researchers concluded.

“The impacts of hATTR amyloidosis were profound for the patients interviewed for this study. They described a sense of loss as their condition progressed and impacted them physically, emotionally, and socially,” the team wrote.