Death Anxiety and Symbolic Immortality in Relatives at Risk for Familial Amyloid Polyneuropathy Type I (FAP I, ATTR V30M)

Abstract

This study is an investigation of the impact of familial amyloid polyneuropathy type I (FAP I, ATTR V30M) on death anxiety and symbolic immortality. Templer and Drolet's scales were administered to 524 individuals: (1) 84 relatives at risk, (2) 92 relatives not at risk for FAP I; and (3) a control group (n = 348) with no known hereditary disease in their families. At-risk relatives had, on average, a higher score for death anxiety and a lower score for symbolic immortality, than either those not-at-risk or controls. There were no significant differences in scores on either measure for those not-at-risk versus controls. Being at risk increases death anxiety and threatens the sense of symbolic immortality and psychosocial wellbeing. This may be true for other serious hereditary disorders as well. Genetic counsellors should become familiar with these concepts, feel comfortable initiating discussions about death with their patients, and be able to identify and reinforce their patients' and family members' sense of symbolic immortality.

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

“…The familiar hereditary influence of ATTRv is reflected in the feeling of guilt of a possibility to pass the disease to offspring, as found in the 58.2% of the patients and 39.5% of their relatives. Moreover, it is likely that feelings of loss and worries about the future—frequently reported by patients and relatives in this study—subtend fear of death, sometimes observed in patients with ATTRv and their at-risk relatives [ 16 , 17 , 20 ]. Sixty-six percent of patients and 48.5% of family members were convinced that if the patient had not been ill everything would have been fine in their family.…”

“…Furthermore, these patients sometimes perceive to be discriminated against and negatively judged by others if they plan to have children [ 15 ]. Moreover, both patients with ATTRv and their families are more vulnerable to emotional stress and psychopathology during their lifetimes [ 16 , 17 ], and they have poorer quality of life than the general population [ 18 – 20 ]. In at-risk relatives, significant long-term psychosocial burden and fear of death have also been reported [ 17 , 20 , 21 ].…”

“…Some studies have small sample sizes and were conducted using a qualitative design [ 14 , 20 , 21 ], a methodology which is difficult to apply in routine clinical settings. Furthermore, only a few studies have examined the burden of care both from the patient’s and the relative’s perspective [ 12 , 18 , 20 ], and none has specifically examined the impact of professional or social support on the patient’s or relative’s burden. The lack of representative data on the burden in ATTRv makes it more difficult to develop ad hoc supportive interventions for patients and their families.…”

“…Moreover, both patients with ATTRv and their families are more vulnerable to emotional stress and psychopathology during their lifetimes [16,17], and they have poorer quality of life than the general population [18][19][20]. In at-risk relatives, significant long-term psychosocial burden and fear of death have also been reported [17,20,21]. These studies have several weaknesses limiting the generalizability of their results.…”

“…These studies have several weaknesses limiting the generalizability of their results. Some studies have small sample sizes and were conducted using a qualitative design [14,20,21], a methodology which is difficult to apply in routine clinical settings. Furthermore, only a few studies have examined the burden of care both from the patient's and the relative's perspective [12,18,20], and none has specifically examined the impact of professional or social support on the patient's or relative's burden.…”