Young adults at risk of FAP may need tailored healthcare support
Unique psychological, social challenges noted during disease testing: Study
Young adults at risk for familial amyloid polyneuropathy (FAP) face unique psychological and social challenges, and likely would benefit from tailored healthcare support when undergoing pre-symptomatic testing for the rare disease.
That’s according to a new study by researchers in Portugal, who conducted interviews with more than a dozen at-risk individuals going to an outpatient center in the country for such testing.
“In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for [FAP],” the team wrote.
“Given that the young adult population has been reported as the one most affected by the disease in Portugal, this research can provide important data to optimize genetic counseling practices and health policies that respond to the specific needs of this population,” the team wrote.
The study, “Living with a question mark’: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy,” was published in the Journal of Community Genetics.
Interviews conducted with 16 young adults undergoing testing
FAP, also known as hereditary ATTR amyloidosis with polyneuropathy or hATTR-PN, is caused by inherited mutations in at least one copy of the TTR gene, which can be detected by genetic testing. The mutations cause toxic protein clumps to build up in the peripheral nerves that branch from the spinal cord, leading to widespread nerve damage.
Undergoing genetic testing gives individuals positive for an FAP-causing mutation the option to seek early treatment that can slow disease progression. While it can be difficult to cope with the emotions that come with genetic testing, receiving psychological support along with genetic counseling may help ease feelings of anxiety or depression.
The frequency of FAP is higher in certain countries, including Portugal, where the disease typically develops during adulthood, before 50 years of age. For younger adults, who may be asserting their independence and making decisions on their own for the first time, the added challenge of being at risk for FAP during these years can make this period even more difficult, according to the researchers.
Now, the team sought to explore the psychosocial experience of young Portuguese adults at risk of FAP due to family history. To that end, the researchers conducted semi-structured individual interviews with 16 people, ages 18-29, who underwent FAP pre-symptomatic testing (PST) at a single Portuguese center.
PST, referring to testing before any overt disease symptoms are evident, includes genetic counseling and psychosocial support.
The participants were 10 women and six men, most of whom were younger than 22 and had completed secondary education or higher.
Findings note 4 areas that may benefit from tailored healthcare support
Four main themes were identified in the study. The first was about these young adults’ beliefs about the possibility of having the disease and their mental images of FAP and any potentially related social stigma.
While some participants expressed fear related to the disease, others did not.
“[hATTR-PN] isn’t something that scares me. I know it can have implications, but I think anyone who is informed and has seen all sides of the disease can think positively,” one participant said. “If there is no cure, there are alternative responses that have been successful so far.”
The second theme referred to the emotional impacts of FAP, which involved a mix of emotions like suffering, anxiety, and sometimes relief. The uncertainty about whether those tested would develop the disease caused stress, but knowing their genetic status through testing also brought some a sense of relief.
One participant said that being at risk of FAP is experiencing “the suffering of seeing a father with the disease and everything he’s been through [because of it]. I think the accompaniment of all this kills us.”
Another noted: “[Whatever the PST result] I’ll be relieved. I won’t think about the 50/50 [chance of having or not having hATTR-PN] anymore.”
The third theme concerned how these young adults coped with the risk, including undergoing PST to get information about their risk, using strategies to manage their emotions, and seeking support from others.
“I’ve had enough of living with a question mark behind me,” a participant said, adding that taking the PST “is to be sure [whether I’m a carrier of hATTR-PN or not] and to find out about my life.”
Another individual being tested said that, after finding out about the possibility of having the disease, “I was almost always thinking [about it].”
This participant added, “If things have to happen, they will.”
The fourth theme was related to the perceived and expected support provided by the individuals’ families and genetic counselors. Family support was often seen as very important in dealing with the stress of possibly having the disease. Professional support from genetic counselors also was valued for providing information and emotional help.
“In my family, there is a very open view [about hATTR-PN]. (…) I was never pressured [by them] to do [the PST], they simply thought it was better for me to do it. (…) I live [the disease] with my family, I talk about it with my family, we live it like family. So, it belongs to everyone,” one participant said.
Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. … Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response.
One participant said getting information and psychological support during the testing about the disease’s potential impact proved helpful.
“The fact that we talk about this [during PST] makes us more aware of the influence that screening and being diagnosed as positive [i.e., carrier] or negative [i.e., non-carrier of hATTR-PN] have,” this person said.
Altogether, these findings highlight the unique challenges faced by young adults at risk of FAP that can affect their overall well-being. As such, providing the right support with tailored healthcare can help reduce the emotional and psychological burden of being at genetic risk for FAP, the team noted.
“Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults,” the researchers wrote. “Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response.”
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