Nonalcoholic Fatty Liver Disease (NAFLD) is a rapidly emerging disease estimated to afflict 30 to 70 million people in the U.S. in general. NAFLD, if allowed to progress, can result in premature death. Heritability is strong in NAFLD, and those with genetic predisposition are at higher risk for disease progression. Little is known about symptoms and health-related quality of life (HRQOL) in persons with NAFLD. This pilot study will examine the symptom experience and HRQOL in persons at risk of NAFLD progression as defined by the presence of one or two copies of the PNPLA3 gene (rs738409-G) allele vs. persons at lower risk of NAFLD progression as defined by the absence of PNPLA3 gene (rs738409-G) allele.
The specific aims of this study are to: 1) Identify the presence of symptoms in persons with NAFLD at lower risk versus higher risk of disease progression based on PNPLA3 (rs738409) genotype;2) Compare the extent to which the frequency, intensity, and distress of symptoms in persons with NAFLD differ between persons at lower risk versus higher risk of NAFLD progression based on PNPLA3 (rs738409) genotype;3) Determine the difference in health-related quality of life in persons at lower risk versus higher risk of NAFLD progression based on PNPLA3 (rs738409) genotype;and 4) Describe the relationship between symptom distress and health-related quality of life in persons at lower risk versus higher risk of NAFLD progression based on PNPLA3 genotype. The design is a cross-sectional descriptive pilot study of 59 persons ages 21 years and older with previously diagnosed NAFLD via imaging or liver biopsy using convenience sampling. The methods used will be the completion of patient questionnaires and saliva sample collection;genotyping for the presence of PNPLA3 (rs738409-G) allele via saliva sample will be conducted to stratify the population. The Memorial Symptom Assessment Scale, the Charlson Comorbidity Index, and the CDC's Healthy Days Measure will be used to measure symptoms, comorbid conditions, and HRQOL. Chi-square, odds ratios, and general linear modeling techniques will be used to analyze the data using PASW 18 software. This study will provide foundational work upon which the applicant will base her research trajectory examining symptoms, genetics, and HRQOL in persons with NAFLD. The significance of this study is that there is a dearth of knowledge regarding disease symptom burden and HRQOL in persons with NAFLD. This study will provide a foundation of knowledge regarding symptoms and HRQOL in persons with NAFLD to build a symptom profile that may be used to measure the impact of interventions for those at risk of progression, early detection of persons at risk, and management of symptoms in the later stages of NAFLD using HRQOL as a measurement of interventions.
This study will describe symptoms and quality of life in persons with nonalcoholic fatty liver disease who are genetically predisposed versus those who are not genetically predisposed for worsening of the disease to liver cirrhosis or liver cancer. We will compare symptoms in persons with nonalcoholic fatty liver disease who have a particular version of the PNPLA3 gene to persons with nonalcoholic fatty liver disease who do not have that version. Identifying a difference in symptoms and quality of life in those with the PNPLA3 (rs738409-G) may enable the use of these findings to screen and intervene earlier to prevent premature death from nonalcoholic fatty liver disease.
| Houghton-Rahrig, Lori D; Schutte, Debra L; von Eye, Alexander et al. (2013) Exploration of a symptoms experience in people with obesity-related nonalcoholic fatty liver disease. Nurs Outlook 61:242-251.e2 |
