Polineuropatía amiloidótica familiar de presentación tardía en la comarca de la Safor (Valencia): presentación de 4 casos

Estébanez, C. Tornero; Soriano, Carlos; Escrich, A. Giménez; Segura, S. Rull

doi:10.1157/13100199

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…According to Munar-Qués et al [22,23], the rate of prevalence amounts to 5/100,000 inhabitants in Majorca and 1/100,000 in Minorca, also a Balearic Island. TTR-FAP has also been described in other areas in Spain, including Valverde del Camino (Huelva), the Safor area (Valencia), Barcelona, Cantabria [24-26], and Vigo (Galicia) [25]. However, the number of patients in these areas is low.…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Reines

Vera

Martín

et al. 2014

Orphanet J Rare Dis

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BackgroundTransthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide, there are descriptions of several endemic foci, such as in Majorca, Balearic Islands, Spain. We aimed at describing a contemporary series of TTR-FAP patients in Son Llàtzer Hospital in Majorca from an epidemiological point of view in order to report their main clinical and laboratory characteristics.MethodsA retrospective, observational study was performed. Medical records from adult patients diagnosed with TTR-FAP from a single hospital were reviewed.ResultsOut of a total of 107 cases, 75 subjects were included: asymptomatic carriers (52.3%) and symptomatic patients (47.7%). Mean age was 58.3 years at the time of the study, and 50.7% were men. Mean age at diagnosis was 49.8 years. In addition, 42 patients (39.2%) had received a liver transplant, and time to liver transplantation was on average 29.56 months from the initial diagnosis. They all had the Val30Met mutation. The organs of the nervous system were those most frequently impaired (57.3%), and 83.9% of the symptomatic patients were fully ambulant (stage 1). Family history was reported in 69.3% of the cases, with the patient’s father being the most commonly affected relative. Comorbidities were frequent, with high blood pressure being the most common.ConclusionsOur findings provide additional information on this condition and are useful for describing the demographic features, clinical presentation, diagnosis, and natural course of TTR-FAP in Majorca.

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Section: Introductionmentioning

confidence: 99%

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Reines

Vera

Martín

et al. 2014

Orphanet J Rare Dis

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“…Neuropathic symptoms directly related to peripheral sensory and motor damage are the main features of this disease [6]. Symptoms are progressive and disabling throughout the four main disease stages (I, II, III, and IV), with severe damage in the nal stage [7]. Autonomic dysfunction and sensory impairment progress from the lower limbs to the upper limbs.…”

Section: Introductionmentioning

confidence: 99%

Occupational therapy in variant transthyretin amyloidosis in the Iberian Peninsula. A qualitative study

Gayà-Barroso,

González-Moreno,

Rodríguez

et al. 2023

Preprint

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Occupational therapy is part of integrated care in health services. However, there is little research on how it is applied to rare diseases. The aim of this study was to investigate the occupational therapy situation and services offered to patients diagnosed with variant transthyretin amyloidosis in Portugal and Spain. A structured interview was carried out by an occupational therapist and a genetic counsellor with six Portuguese and four Spanish occupational therapists to collect opinions about the reality of occupational therapy and variant transthyretin amyloidosis. No occupational therapist working with variant transthyretin amyloidosis or other rare diseases was found. Therefore, general aspects of the discipline were discussed in order to study the situation of this profession in general terms. Four interrelated dimensions were considered. The first was a general perspective on psychosocial resources in health care, addressing questions related to the interventions offered to patients; the second and third were professional perspectives, asking questions about the role of occupational therapy in the Portuguese and Spanish psychosocial realities; and the fourth dimension was a social perspective, addressing questions about the role of occupational therapy in the Portuguese and Spanish psychosocial realities. Although this approach is not designed to generalise, it opens up a relevant avenue to explore in this area. The results highlights the importance of further research to develop and implement the discipline of occupational therapy in a multidisciplinary approach after variant transthyretin amyloidosis diagnosis, creating potential strategies to promote its use.

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Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study

Gayà-Barroso,

González-Moreno,

Rodríguez

et al. 2023

Orphanet J Rare Dis

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Background Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and psychosocial interventions, the impact of occupational therapy (OT) on patients with ATTRv is not well understood. Objective The aim of this study was to develop an OT programme to improve the daily functioning and quality of life of patients with ATTRv. Methods Fourteen patients with ATTRv were interviewed. Together they developed short- and medium-term occupational goals. Patients received the OT intervention for six months. Outcomes were measured using scores for activities of daily living and psychological well-being. Results The study found that OT can have a positive impact as a complementary intervention to medical and other psychosocial treatments. Of the 14 patients, 12 maintained the same scores in activities of daily living. Two deteriorated and eight improved their psychological scores. Conclusion This study highlights the need for further research in this area and the importance of OT in the management of patients with ATTRv. Early intervention is of paramount importance and further research is needed to evaluate the long-term effects of OT interventions in patients with ATTRv.

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Polineuropatía amiloidótica familiar de presentación tardía en la comarca de la Safor (Valencia): presentación de 4 casos

Cited by 5 publications

References 11 publications

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Occupational therapy in variant transthyretin amyloidosis in the Iberian Peninsula. A qualitative study

Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study

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