ABSTRACT
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onset fatal diseases, as Huntington's disease, protocols for pre-symptomatic genetic testing (PST) are available since decades. For ATTRv, limited experience has been reported to date, mostly gathered before the availability of approved therapies. We aimed at developing recommendations for a safe and feasible PST protocol in ATTRv in the era of emerging treatments, taking also into account Italian patients' characteristics and healthcare system rules. After an initial survey on ongoing approaches to PST for ATTRv in Italy, two roundtable meetings were attended by 24 experts from 16 Italian centers involved in the diagnosis and care of this disease. Minimal requirements for PST offer and potential critical issues were highlighted. By November 2019, 457 families affected by ATTRv with 209 molecularly confirmed pre-symptomatic carriers were counted. The median age at PST was 41.3 years of age, regardless of the specific mutation. Half of the Italian centers had a multidisciplinary team, including a neurologist, an internist, a cardiologist, a medical geneticist and a psychologist, although in most cases not all the specialists were available in the same center. A variable number of visits was performed at each site. Experts agreed that PST should be offered only in the context of genetic counselling to at risk individuals aged 18 or older. Advertised commercial options for DNA testing should be avoided. The protocol should consist of several steps, including a preliminary clinical examination, a pre-test information session, an interval time, the genetic test and a post-test session with the disclosure of the test results, in the context of an experienced multidisciplinary team. Recommendations for best timing were also defined. Protocols for PST in the context of ATTRv can be refined to offer at risk individuals the best chance for early diagnosis and timely treatment start, while respecting autonomous decisions and promoting safe psychological adjustment to the genetic result.
Subject(s)
Amyloid Neuropathies, Familial , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Consensus , Genetic Testing , Humans , ItalyABSTRACT
UNLABELLED: Two surveys were carried out to assess ALS patients and caregivers' care and treatment needs in Liguria Region mainly during the first stage of the disease. One inquiry concerned patients during their first year of illness--the other concerned caregivers during different stages of the disease, excepting the terminal one. METHODS: A semistructured interview was given to 18 patients during first year from diagnosis. The Caregivers Needs Assessment questionnaire was administered to 27 caregivers during different phases of their parents' illness. RESULTS: The clinical interview emphasized that the patients need to be prepared for the future. In spite of strong (75%), or uncontrolled (50%) emotional aspects, in our group an active and fighting attitude (45%) prevailed. Caregivers' needs appeared to be generally high for the whole group, they mainly requested to be enabled to meet the appropriate assistance, to be informed on the cure and to cooperate and be involved in decision taking. Needs for spiritual, psychological or self-help and support group were apparently little required but during the first year emotional and social support are more desired. CONCLUSION: This survey shows that the psychological support for such patients must be planned for each of them and trimmed upon their single peculiarities after a careful evaluation and enhancement of their capability in facing difficulties. Caregivers barely asked for personal help or support--rather they asked to be enabled to tackle the practical aspects of the disease and for an improved cooperation share with doctors.