Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy

Abstract

Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients and methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire exploring their physical, psychological, and social well-being and perceived impact of the disease. Descriptive analyses and comparison with general population norms were conducted.

Results: Of 175 eligible patients, 109 (84% of women) were included, either with familial partial (n = 93) or congenital generalized (n = 16) lipodystrophy. Health-related quality of life based on physical and mental scores was significantly decreased compared to the French general population of similar age and gender (P < .001 for both). Forty-one percent of patients reported moderate or severe depression and 69% dealt with chronic pain. Half of respondents had taken tranquilizers, sleeping pills, or antidepressants over their life. Female participants with genetic lipodystrophy were more frequently unemployed due to health issues as compared to the general population. Social discrimination was highly prevalent (73%), coming, in 34% of cases, from health professionals. More than half of affected women reported a very negative impact of lipodystrophy on body image, significantly associated with depressive symptoms.

Conclusion: This study highlights the need of psychosocial support in patients with lipodystrophy. An integrated approach and evaluation of psychological and physical symptoms by physicians should be made available to organize specialized care and set up specific therapeutic educational programs.

Keywords: lipodystrophy syndrome; psychosocial impact; quality of life; rare disease; self-report; well-being.

Figure 1.

Depression in patients with genetic lipodystrophy. (A) Distribution of total PHQ-9 score of depression among the cohort of patients with genetic lipodystrophy. The median score is depicted as a horizontal line. (B) Proportion of patients with genetic lipodystrophy, for each level of depression, according to the PHQ-9 questionnaire.

Figure 2.

Distribution of the painful parts of the body in patients with genetic lipodystrophy according to the Brief Pain Inventory questionnaire (n = 71). Percentages of the whole group of patients with genetic lipodystrophy answering to the BPI question: “what part(s) of your body are painful?”.

Figure 3.

Participants’ responses to the Treatment Burden Questionnaire (n = 100). Percentage of response to each item of the TBQ questionnaire of the whole group of patients with genetic lipodystrophy. The English version of the TBQ questionnaire is composed of 15 items rated on a Likert scale ranging from 0 (not a constraint, percentage of response depicted in white) to 10 (major constraint, percentage of response depicted in black), with percentages of responses ranging from 1 to 9 sequentially depicted in gray. The TBQ questionnaire assesses the burden associated with taking medicine as a reminder of chronic condition, following advice of dietary changes, doctor appointments, advice of physical activity recommendations, appointment planning, laboratory tests and other examinations, effort to remember to take medication, administrative tasks, financial constraints, self-monitoring, relationship with health care professionals, medication intake frequency, specific conditions of medication intake, galenic form, and social impact of the treatment. The mean score ± sSD for each item is depicted at the right side of the figure.

Figure 4.

Body image in women with genetic lipodystrophy. (A) Percentages of responses to Body Image Scale questionnaire of women with genetic lipodystrophy (n = 84). (B) Body parts for which women CGL (n = 10) reported dissatisfaction. (C) Body parts for which women with FPLD (n = 64) reported dissatisfaction. Percentages of responses to each item of the Body Image Scale (BIS) questionnaire of women with genetic lipodystrophy, depicted in white (“not at all”, score 0), gray (“slightly”, score 1, or “moderately”, score 2), or black (“very much”, score 3).