Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

BACKGROUND: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. The disease is thus associated with a high degree of patient disability. Accordingly, we aimed to describe the psychosocial burden associated with ATTRv in a group of patients, asymptomatic Val50Met carriers, relatives and caregivers in the endemic focus of the disease in Majorca via a survey addressing various aspects related to psychosocial burden. We performed a an observational, descriptive, cross-sectional and multicentre study in order to analyze the prevalence of self-reported impact of ATTRv disease upon their daily life. In addition to the self-knowledge, fear and burden related to the disease. The survey was disseminated during the regular follow up at the outpatient clinic of the Hospital Universitario Son Llàtzer and during the meetings organized by the Andrade's Disease patients' advocacy group from the Balearic Islands. These meetings were attended also by subjects followed up by the Hospital Universitario Son Espases and their caregivers and relatives. Survey was self-administrated. No intervention was done by the investigators. 85 subjects completed the survey: 61 carrying the TTR-V50M variant and 24 caregivers or relatives. RESULTS: Our study revealed that, although most of the population studied had had prior contact with ATTRv through affected relatives, there was still a lack of information regarding disease diagnosis. Fear of the genetic test result and psychological issues were common in our population. Moreover, the disease had a stronger impact on the daily life of our patients than that of our asymptomatic carriers. Autonomic symptoms were the main source of burden for relatives and caregivers. CONCLUSION: Our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.

Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster.

BACKGROUND: Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in age at onset (AO) within each generation. Our aim was to study AC in a large number of ATTRV30M kindred from Majorca (Spain), and gain further insight into parent-of-origin effects. METHODS: In a cohort of 262 subjects with ATTRV30M amyloidosis belonging to 51 families, we found 37 affected pairs. AO is defined as the age at the first symptom and AC (parent's age at disease onset minus that of the offspring) were calculated. Chi-square test, independent t-test and paired t-test were used for comparisons between groups. Association between AO of parents and offsprings were assessed by Pearson's correlation coefficient. RESULTS: Offspring mean AO was 16 years lower than that of the parents (p < .001) regardless of the sex of the parents and the offspring. AC occurred in 31 out of the 37 pairs, with no differences related to the sex of parents or offspring. There was a moderate correlation (r = 0.49; p < .001) between AO of the parents and that of the offsprings. CONCLUSION: AC was no uncommon in our cohort, and AO tended to decrease in successive generations.