RESUMO
BACKGROUND: Triglyceride (TG) concentrations >2000 mg/dL are extremely elevated and increase the risk of pancreatitis. OBJECTIVES: We characterized five cases and two kindreds and ascertained prevalence in a reference laboratory population. METHODS: Plasma lipids and DNA sequences of LPL, GPIHBP1, APOA5, APOC2, and LMF1 were determined in cases and two kindreds. Hypertriglyceridemia prevalence was assessed in 440,240 subjects. RESULTS: Case 1 (female, age 28 years) had TG concentrations >2000 mg/dL and pancreatitis since infancy. She responded to diet and medium-chain triglycerides, but not medications. During two pregnancies, she required plasma exchange for TG control. She was a compound heterozygote for a p.G236Gfs*15 deletion and a p.G215E missense mutation at LPL, as was one sister with hypertriglyceridemia and pancreatitis during pregnancy. Her father was heterozygous for the deletion and had hypertriglyceridemia and recurrent pancreatitis. Other family members had either the missense mutation or the deletion, and had hypertriglyceridemia but no pancreatitis. In kindred 2, three preschool children had severe hypertriglyceridemia and were homozygous for a GPIHBP1 p.T108R missense mutation. Case 5 (male, age 43 years) presented with pancreatitis and TG levels >5000 mg/dL and had heterozygous GPIHBP1 p.G175R and APOC2 intron 2-4G>C mutations. On diet, fenofibrate, fish oil, and atorvastatin, his TG concentration was 2526 mg/dL, but normalized to <100 mg/dL with added pioglitazone. In our population study, 60 subjects (0.014%) of 440,240 had TG concentrations >2000 mg/dL, and 66.7% were diabetic and had elevated insulin levels. CONCLUSIONS: Extreme hypertriglyceridemia is rare (0.014%); and during pregnancy, it may require plasma exchange.
Assuntos
Hipertrigliceridemia/genética , Gravidez , Receptores de Lipoproteínas/genética , Adulto , Apolipoproteína A-V/sangue , Apolipoproteína A-V/genética , Apolipoproteína C-II/sangue , Apolipoproteína C-II/genética , Progressão da Doença , Feminino , Humanos , Hipertrigliceridemia/epidemiologia , Hipertrigliceridemia/imunologia , Lipase Lipoproteica/sangue , Lipase Lipoproteica/genética , Masculino , Proteínas de Membrana/sangue , Proteínas de Membrana/genética , Mutação de Sentido Incorreto/genética , Pancreatite , Linhagem , Troca Plasmática , Polimorfismo Genético , Complicações na Gravidez , Prevalência , Receptores de Lipoproteínas/sangue , Triglicerídeos/sangueRESUMO
BACKGROUND: The rising cost of hospitalizations for heart failure (HF) care mandates intervention models to address education for self-care success. The effectiveness of memory enhancement strategies to improve self-care and learning needs further examination. OBJECTIVE: The objective of this study was to examine the effects of an education-support intervention delivered in the home setting, using strategies to improve health status and self-care in adults/older adults with class I to III HF. Our secondary purpose was to explore participants' subjective perceptions of the intervention. METHODS: This study used a randomized, 2-group design. Fifty people were enrolled for 9 months and tested at 4 time points-baseline; after a 3-month education-support intervention; at 6 months, after 3 months of telephone/e-mail support; and 9 months, after a 3-month period of no contact. Advanced practice registered nurses delivered the intervention. Memory enhancement methods were built into the teaching materials and delivery of the intervention. We measured the intervention's effectiveness on health status outcomes (functional status, self-efficacy, quality of life, emotional state/depressive symptoms, and metamemory) and self-care outcomes (knowledge/knowledge retention, self-care ability). Subjects evaluated the usefulness of the intervention at the end of the study. RESULTS: The mean age of the sample was 62.4 years, with a slight majority of female participants. Participants were well educated and had other concomitant diseases, including diabetes (48%) and an unexpected degree of obesity. The intervention group showed significant improvements in functional status, self-efficacy, and quality of life (Kansas City Cardiomyopathy Questionnaire); metamemory Change and Capacity subscales (Metamemory in Adulthood Questionnaire); self-care knowledge (HF Knowledge Test); and self-care (Self-care in Heart Failure Index). Participants in both groups improved in depressive scores (Geriatric Depression Scale). CONCLUSIONS: An in-home intervention delivered by advanced practice registered nurses was successful in several health status and self-care outcomes, including functional status, self-efficacy, quality of life, metamemory, self-care status, and HF knowledge.
Assuntos
Nível de Saúde , Insuficiência Cardíaca/terapia , Educação de Pacientes como Assunto , Autocuidado , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Autoeficácia , Resultado do TratamentoRESUMO
Chronic health failure is a leading cause of hospital readmissions and is reaching epidemic proportions in the United States. Explanatory models of illness can provide insight about how people with heart failure perceive their etiology of heart failure. Six themes were found in this descriptive, qualitative study to explore the perceived origin of heart failure in 50 participants. Forty percent of the people were unaware of why they had the diagnosis. Misconceptions and misinformation were common, including confusion about whether the symptoms themselves caused the disease.
