Influences of lipedema on quality of life, psychological status and genetics

Lipedema is a chronic, progressive and disabling disorder that affects mainly women. It's presenting in women during puberty or other times of hormonal change such as childbirth or menopause. Symmetric enlargement of nodular, painful subcutaneous adipose tissue in the limbs, sparing the hands, feet and trunk are the most common characteristics of lipedema. Patients affected by lipedema have a classic "column leg" appearance, with masses of nodular fat, easy bruising, and pain. Despite these common symptoms and signs lipedema is still underdiagnose and/or misdiagnose as obesity or lymphedema. As a result, patients with lipedema patients and their families are suffered and have a bad quality of life (QOL). In addition, the psychological consequences are a major challenge for patients with lipedema. Depression, anxiety and social isolation are reported in patients with lipedema Moreover, there is an extremely high demand for therapy since the condition causes major morbidity and affects QOL. In fact, the lacks of appropriate therapy and/or management for lipedema make this disorder more complicated. Additionally, the other factors like physical inactivity, food imbalanced and the bad body image affected QOL and general psychological status. Therefore, the overall aim of this thesis was to investigate the effect of lipedema on QOL, psychological status and genetics variations. In particularly, we investigated the effect of lipedema on health related QOL and psychological status including (depression and anxiety). Further, we evaluated the phenotype of lipedema by investigating the role of polymorphisms related to IL-6 (rs1800795) gene in patients with lipedema. In our first study, we investigated the effect of lipedema on health related QOL and psychological status via narrative literature review. We collected articles through a search into Medline, Embase, Scopus, Web of Science, Physiotherapy Evidence Database (PEDro), and the Cochrane Review. A total of four observational studies were evaluated. The included studies were moderate quality according to the Newcastle–Ottawa Scale. Three of the included studies demonstrated deterioration of health related QOL and psychological status in patients with lipedema. We found also that pain and tenderness are a more common and dominant characteristic. The results of the included articles reported that the health related QOL and psychological status decreased and deteriorated in patients with lipedema. The evidence from the included studies using generic tools to assess health related QOL and psychological status is that patients with lipedema have a poorer psychological adjustment, greater deficits in their ability to function physically and socially and increased anxiety and depression. These studies also identify that pain and tenderness are more common and vii dominant symptoms. These findings indicate that pain, poor skin condition, and reduced limb mobility are factors that can lead to deficits in health related QOL. In the second study, we evaluated the phenotype of lipedema by investigating the role of polymorphisms related to IL-6 (rs1800795) gene in patients with lipedema. Two groups participated to the study: 45 women with lipedema (LIPPY) and 50 women randomly chosen from the population (CTRL). Clinical and demographical variables recorded include: weight, height, body mass index (BMI) and circumference measurements. Fat and lean body mass, bone mineral densities were assessed by Dual energy X-ray and Absorptiometry (DXA). Using saliva sample the genetic tests IL-6 (rs1800795) gene was performed for both groups. LIPPY group showed a significant difference compared with the CTRL group in weight, BMI, waist circumference abdomen circumference, hip circumference, tissue% fat arms, tissue% fat legs, tissue% whole fat, region% whole fat, fat g arms, fat g legs, fat g gynoid, lean g legs and ASMMI. Moreover, specific alleles, related to the IL 6 genes could have in the distribution and localization of body fat, the intragroup comparisons (LIPPY carriers vs LIPPY non-carriers and CTRL carriers vs CTRL noncarriers) showed no statistically significant values. By contrast, the inter-group comparisons (LIP non-carriers vs CTRL non-carriers and LIP non-carriers vs CTRL non-carriers) resulted statistically significant. Finally, in order to assess the relation between the intestinal microbiota in patient with lipedema, the third experiment is conducted to investigate the relationship between the intestinal microbiota in patients with lipedema and body composition which is carried out with anthropometric measurements (age, body weight, stature, and circumference), densitometric measurements, and DXA (densitometry at two energy level). Unfortunately, the results presented in this thesis is a primarily results and still not published