Abstract
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic. Descriptive and statistical analyses were performed. They were 84 men and 127 women belonging to three groups: pre-symptomatic carriers, patients, and subjects with no established diagnosis. Most subjects were married/lived with a partner and had children (mean of 4). Most (96.3%) had contact with the disease before having a diagnosis; the affected or at-risk parent was the mother in 53.8% and the father in 43.3%; 71.8% of these had deceased. At their parent’s death, many subjects were aged under 10 (9.9%), 10–14 (15.5%), or 15–24 years (31.7%). Most were under age 14 (44.9%) at their parent’s disease onset; 37.2% referred this brought life changes with psychological and familial impact; most had been parent’s caregivers; 7.5% had not been raised by the parents. Some (8.4%) declined to know their genetic tests results for over 1 year. Parent’s disease and death are very common early in these patient’s lives. During childhood or youth, many subjects became caregivers, implying changes in family roles. This disease and its life implications pose a significant psychosocial burden since childhood. TTR-FAP patients and their relatives are highly vulnerable to emotional stress and psychopathology during their lifetime. Psychological and psychiatric support, implying a multidisciplinary group, must thus be available for all of them.
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The institutional review board of Centro Hospital do Porto approved the study, and written consent was obtained from all study participants.
Conflict of interest
Alice Lopes has received honoraria from Pfizer for presentations at courses of TTR-related FAP for physicians.
Alexandra Sousa has no conflicts to disclosure.
Isabel Fonseca has no conflicts to disclosure.
Margarida Branco has no conflicts to disclosure.
Carla Rodrigues has no conflicts to disclosure.
Jorge Sequeiros has received honoraria from Pfizer for presentations on genetic counseling of TTR-related FAP, at international meetings (ARiA) and courses for physicians, as well as for the preparation of leaflets and webminars on genetic counseling of TTR-related FAP.
Teresa Coelho received support from Pfizer, IONIS Pharmaceuticals, and Alnylam pharmaceuticals to attend scientific meetings and integrates the speakers’ bureau of Pfizer and received honoraria.
Paula Freitas has no conflicts to disclosure.
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Lopes, A., Sousa, A., Fonseca, I. et al. Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study. J Community Genet 9, 93–99 (2018). https://doi.org/10.1007/s12687-017-0338-0
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DOI: https://doi.org/10.1007/s12687-017-0338-0