miércoles, 20 de septiembre de 2017

The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study | Orphanet Journal of Rare Diseases | Full Text

The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study | Orphanet Journal of Rare Diseases | Full Text

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Orphanet Journal of Rare Diseases



The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study

Orphanet Journal of Rare Diseases201712:156
Received: 27 June 2017
Accepted: 5 September 2017
Published: 19 September 2017


Abstract

Background

Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families.

Methods

The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30–45-min follow-up telephone interview. Feelings and thoughts at each stage of the disease journey were captured on a 0–10 rating scale, while the impact of disease on overall health status was measured via the EuroQoL 5 domains, 3 levels (EQ-5D-3L) questionnaire (descriptive and visual analogue scale).

Results

Of four patients identified, three (two female, one male) were recruited to participate in the study; the male patient did not complete the pre-interview task or consent to a family member interview. Demographics and medical history differed among patients in terms of age at symptom onset, their journey to LPLD diagnosis, treatments, the number of attacks of pancreatitis and lengths of hospitalisations. Health-related quality of life, assessed by the EQ-5D-3L, was poor during acute attacks of pancreatitis but was minimally impacted by their condition at interview. Patients described feeling apprehensive, frightened, anxious, depressed or frustrated during and after hospitalisations; spouses of the two female patients also reported being worried or afraid. LPLD affected many aspects of daily living, including diet; socialising and building relationships; state of mind (fear of another attack of pancreatitis or lack of disease control); college and working life (through absenteeism and consequent financial implications); and being reliant on family and friends for support.

Conclusions

The interviews of the three patients with LPLD highlighted several concerns and emphasised the need for improved education, support, dietary advice and appropriate disease management. Additional support services would ease the fear and uncertainty surrounding attacks of pancreatitis, and would allow for improved treatment during hospitalisations.


Keywords

Burden of disease Chylomicronaemia Health-related quality of life Hypertriglyceridaemia Lipoprotein lipase deficiency Pancreatitis


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