Family members of late-onset FAP patients face unique challenges
Researchers interviewed relatives in Portugal, where late-onset FAP cases have increased
Family members of people with late-onset familial amyloid polyneuropathy (FAP) may face emotional and practical challenges due to the onset of disease symptoms in late adulthood, with some seeking information and support while others avoiding discussing the disease.
That’s according to interviews of eight adults who were family members of late-onset FAP patients living in Portugal, where FAP is more common and cases of late-onset disease have increased.
While the findings call for better genetic counseling and health policies, “future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers,” the researchers wrote. Their study, “The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease,” was published in the Journal of Community Genetics.
FAP — also known as hereditary, or variant, transthyretin amyloidosis with polyneuropathy — is caused by inherited mutations in at least one copy of the TTR gene, which can be checked by genetic testing. The mutations cause toxic clumps of the transthyretin protein to build up in the peripheral nerves that branch off the spinal cord, leading to widespread nerve damage.
Traditionally, FAP was considered an early-onset disease in Portugal, but studies report more late-onset cases, where symptoms manifest later in life, at age 50 or older, similar to the U.S., Sweden, France, and Italy. Starting FAP treatments early can slow the disease’s progression, replacing a liver transplant as the main option.
FAP can affect families in different ways depending on when it appears in life. In Portugal, where early-onset disease was more common, many children and adolescents experienced the disease of a parent at a young age, sometimes leading to caregiving responsibilities while still in childhood. In countries where the disease appears later, adults face challenges balancing work, parenting, and caregiving. Understanding these differences is important for improving care. Because the frequency of late-onset FAP is increasing in Portugal, studying its psychosocial impact can help improve genetic counseling and health policies.
Different way of coping with late-onset FAP
For the study, the researchers interviewed six women and two men (mean age, 55) over the phone who were relatives of late-onset FAP patients to better understand their emotions, challenges, and coping strategies. They used a qualitative approach, meaning they focused on personal experiences rather than statistics.
Their experiences with late-onset FAP were shaped by three key factors: delayed awareness of the disease; psychological impacts in different areas of adult life, including work; and strategies used to cope with the disease. These factors were closely connected and evolved over time.
All the participants said they only became aware of FAP in adulthood, often through the diagnosis of a close relative, as the disease appeared late in life. This delayed their understanding of their genetic risk, which could bring emotional distress and uncertainty about the future.
“My father was a very active person and the development of the disease coincided with [his father’s] retirement. (…) I didn’t know what [FAP] was,” one participant said. Another said: “I never noticed any symptoms [in the family] related to [FAP] … I had a vague idea that [FAP] wasn’t good, but I didn’t know what it was exactly.”
One participant recalled: “I was 38 years old [when the disease appeared in the family]. … The doctor said that [his father’s] disease was progressing and that even medication didn’t help much.”
Another participant diagnosed with late-onset FAP found they had the disease the same time as their father, who “already had severe locomotion symptoms, ended up in a wheelchair, and died three months after.”
Learning about FAP as adults caused emotional distress and difficulties in different areas of life, including work. “I was 32 years old [when FAP appeared in the family]. It was a horrible time. I had a lot of anxiety … and couldn’t be productive at work or at home,” one person said.
Another recalled that when initially reading about FAP symptoms, they thought they had all of them. Also, “I had nightmares about my father falling and hurting himself.” As their father’s disease progressed, daily life became more challenging. “I stopped working to look after him … Even when I do go out, I’m afraid [the father will fall when he gets up to do something].”
As a way to cope with FAP, most participants sought information and support. One said they started researching reliable sources and connecting with people worldwide to learn more. Another found comfort in support from their friends and their spouse, adding “All this helps me to live with the disease better.”
Some participants preferred to avoid thinking about the disease as a way to maintain a sense of normalcy. One said: “I don’t even think about what I think and feel about [FAP]. I think that the more you think about it, you start to have symptoms without [actually] having them.”
“Studies on the psychosocial experience of different patterns of the condition and on the role of key variables in the family system can contribute to filling gaps in the scientific evidence this population,” the researchers wrote.
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