Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease

Lopes, Alneu de Andrade; Fonseca, Isabel; Sousa, Alexandra; Rodrigues, Carla; Branco, Margarida; Coelho, Teresa; Sequeiros, Jorge; Freitas, Paula

doi:10.1080/13506129.2018.1428795

Cited by 9 publications

(6 citation statements)

References 65 publications

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“…Sixty percent of patients and key relatives stated they cried or felt depressed in the past 2 months. These findings are in line with those reported by Lopes et al [16] about the prevalence of psychiatric problems in ATTRv patients and by Theaudin et al [12] on marital difficulties and depression in this disease. Feelings of sadness may lead to depression and other minor psychiatric disorders [18].…”

Section: Discussionsupporting

confidence: 93%

“…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 atrisk 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.…”

Section: Discussionmentioning

confidence: 72%

“…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][19][20]. In at-risk relatives, significant long-term psychosocial burden and fear of death have also been reported [17,20,21].…”

Section: Introductionmentioning

confidence: 99%

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

Magliano

Obici

Sforzini

et al. 2021

Orphanet J Rare Dis

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Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients’ and relatives’ socio-demographic variables, patients’ clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives. Methods The study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives’ assessments were performed using validated self-reported tools. Results Overall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support. Conclusions These results show that ATTRv is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this pathology may involve.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 72%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Magliano

Obici

Sforzini

et al. 2021

Orphanet J Rare Dis

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“…These descriptions are compatible with the differences noted between HC and AC in this study. Moreover, studies have shown that being a carrier of the V30M mutation, whether symptomatic or asymptomatic, is associated with more vulnerability to psychopathological symptoms and emotional distress (27), especially with the proximity to the age of onset which can trigger anxiety (28). In future gait analysis studies, the use of an anxiety measurement tool would therefore be very useful to complement the evaluation.…”

Section: Discussionmentioning

confidence: 99%

Clinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis

et al. 2020

Self Cite

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Hereditary amyloidosis associated with transthyretin V30M (ATTRv V30M) is a rare and inherited multisystemic disease, with a variable presentation and a challenging diagnosis, follow-up and treatment. This condition entails a definitive and progressive motor impairment that compromises walking ability from near onset. The detection of the latter is key for the disease's diagnosis. The aim of this work is to perform quantitative 3-D gait analysis in ATTRv V30M patients, at different disease stages, and explore the potential of the obtained gait information for supporting early diagnosis and/or stage distinction during follow-up. Sixty-six subjects (25 healthy controls, 14 asymptomatic ATTRv V30M carriers, and 27 symptomatic patients) were included in this case-control study. All subjects were asked to walk back and forth for 2 min, in front of a Kinect v2 camera prepared for body motion tracking. We then used our own software to extract gait-related parameters from the camera's 3-D body data. For each parameter, the main subject groups and symptomatic patient subgroups were statistically compared. Most of the explored gait parameters can potentially be used to distinguish between the considered group pairs. Despite of statistically significant differences being found, most of them were undetected to the naked eye. Our Kinect camera-based system is easy to use in clinical settings and provides quantitative gait information that can be useful for supporting clinical assessment during ATTRv V30M onset detection and follow-up, as well as developing more objective and fine-grained rating scales to further support the clinical decisions.

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“…The characteristic phenotype of this mutation comprises sensori-motor polyneuropathy of the legs, carpal tunnel syndrome, autonomic dysfunction, constipation, and impotence. [23] While the V122I TTR mutation is notable for its high prevalence in patients of African origin. Roughly 3% to 4% of African Americans are heterozygous for this mutation.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive diagnosis of hereditary transthyretin-related cardiac amyloidosis

Qin¹,

Zhan²,

Li³

et al. 2019

Medicine

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Rationale: Cardiac transthyretin amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of clinical manifestations, routine electrocardiogram, echocardiography and the traditional requirement for endomyocardial biopsy confirmation. Patient concerns: A 68-year-old female had suffered from lumbago for 5 years with progressive weakness, numbness in both lower limb. Diagnosis: The patient's clinical signs were not specific, but cardiac amyloidosis was suspected based on relative left ventricular apical sparing of longitudinal strain on echocardiography and continuous elevated serum levels of cardiac biomarkers (ultrasensitive cardiac troponin I and NT-proBNP). She was finally diagnosed hereditary transthyretin-related cardiac amylodosis by specific findings of cardiovascular magnetic resonance imaging (CMR), 99m -technetium pyrophosphate ( 99m Tc-PYP) scintigraphy and genetic testing. Interventions: The patient received medications including diuretics, beta-blockers and angiotensin-converting enzyme inhibitors at the time of hospitalization. Ultimately, however, she refused further treatments and requested discharge from our hospital. Outcomes: A series of noninvasive technique enables the diagnosis of hereditary transthyretin-related cardiac amyloidosis. Lessons: While endomyocardial biopsy is not able to performed, this case demonstrates that a combination of noninvasive techniques, especially CMR, nuclear imaging, and genetic testing, may help us to make a correct diagnosis of hereditary transthyretin-related cardiac amyloidosis.

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Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease

Abstract: Results point to an important vulnerability of this population for psychological distress and psychiatric disease. Early life events related to disease, being sick and sex are associated with psychopathological distress.

Cited by 9 publications

References 65 publications

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

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

Clinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis

Noninvasive diagnosis of hereditary transthyretin-related cardiac amyloidosis

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