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2.
Orphanet J Rare Dis ; 13(1): 210, 2018 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-30466460

RESUMO

BACKGROUND: Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability in how the disease can affect an individual's neurologic, cardiovascular, ophthalmologic, or gastroenterological systems. This study describes the health care utilization and cost in patients diagnosed with MD. METHODS: This study was a retrospective claims analysis based on data from the Truven Health Analytics MarketScan Database and Milliman's Consolidated Health Cost Guidelines Sources Database. For the purpose of this study the diagnosis of MD was defined by ICD-9-CM (prior to October 2015), and ICD-10-CM (October 2015 or later), and included patients identified between January 1, 2008 to December 31, 2015. ICD-9-CM code of 277.87 (disorders of mitochondrial metabolism) and the ICD-10-CM codes of E88.40, E88.41, E88.42 and E88.49 (mitochondrial metabolism disorders) were used as inclusive criteria. Patients were included if they had at least six months of exposure after the first MD-related claim occurrence, and either one MD claim in the inpatient setting OR two MD claims in an outpatient setting. Claims of MD patients are compared to those of a general insured total member population, as well as to those from multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) patients. RESULTS: During the study period, 3825 patients between the ages of 0 and 15 (pediatric) and 4358 patients 16 years of age and greater (adult) were identified. Total allowed per member per month (PMPM) cost for pediatric patients was $4829 and $3100 for adults, compared with an average of $202 and $486, respectively, for the total member population. The greatest drivers of costs based on allowed claims came from inpatient, surgery, and prescription medications. In the adult population, MD imposes a PMPM cost burden that was comparable to that observed for multiple sclerosis ($3518) and ALS ($3460) patients. CONCLUSIONS: This retrospective claim study highlights the significant differences in the cost of medical care for MD patients compared to those of a general population. Mitochondrial disorders are associated with multisystem disease manifestations and a greater care and cost burden similar to other devastating neuromuscular diseases.


Assuntos
Custos de Cuidados de Saúde , Doenças Mitocondriais/economia , Adolescente , Esclerose Lateral Amiotrófica/economia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Esclerose Múltipla/economia , Estudos Retrospectivos , Estados Unidos
3.
Mol Genet Metab ; 121(2): 119-126, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28442181

RESUMO

IMPORTANCE: Mitochondrial disease is being diagnosed with increasing frequency. Although children with mitochondrial disease often have severe, life-limiting illnesses, many survive into adulthood. There is, however, limited information about the impact of mitochondrial disease on healthcare utilization in the U.S. across the lifespan. OBJECTIVES: To describe the characteristics of inpatient hospitalizations related to mitochondrial disease in the U.S., to identify patient-level clinical factors associated with in-hospital mortality, and to estimate the burden of hospitalizations on individual patients. DESIGN: Cross-sectional and longitudinal observational studies. SETTING: U.S. hospitals. PARTICIPANTS: Individuals with hospital discharges included in the triennial Healthcare Cost and Utilization Project (HCUP) Kids Inpatient Database (KID) and the National Inpatient Sample (NIS) in 2012 (cross-sectional analysis); individuals with hospital discharges included in the HCUP California State Inpatient Database from 2007 to 2011, inclusive (longitudinal analysis). EXPOSURE: Hospital discharge associated with a diagnosis of mitochondrial disease. MAIN OUTCOME MEASURES: Total number and rate of hospitalizations for individuals with mitochondrial disease (International Classification of Diseases, 9th revision, Clinical Modification code 277.87, disorder of mitochondrial metabolism); in-hospital mortality. RESULTS: In the 2012, there were approximately 3200 inpatient pediatric hospitalizations (1.9 per 100,000 population) and 2000 inpatient adult hospitalizations (0.8 per 100,000 population) for mitochondrial disease in the U.S., with associated direct medical costs of $113million. In-hospital mortality rates were 2.4% for children and 3.0% for adults, far exceeding population averages. Higher socioeconomic status was associated with both having a diagnosis of mitochondrial disease and with higher in-hospital mortality. From 2007 to 2011 in California, 495 individuals had at least one admission with a diagnosis of mitochondrial disease. Patients had a median of 1.1 hospitalizations (IQI, 0.6-2.2) per calendar year of follow-up; infants under 2y were hospitalized more frequently than other age groups. Over up to five years of follow up, 9.9% of participants with any hospitalization for mitochondrial disease were noted to have an in-hospital death. CONCLUSIONS AND RELEVANCE: Hospitalizations for pediatric and adult mitochondrial diseases are associated with serious illnesses, substantial costs, and significant patient time. Identification of opportunities to prevent or shorten such hospitalizations should be the focus of future studies.


Assuntos
Hospitalização/estatística & dados numéricos , Doenças Mitocondriais/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Estudos Transversais , Bases de Dados Factuais , Feminino , Pesquisa sobre Serviços de Saúde , Mortalidade Hospitalar , Hospitalização/economia , Humanos , Lactente , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doenças Mitocondriais/economia , Doenças Mitocondriais/mortalidade , Estados Unidos/epidemiologia , Adulto Jovem
4.
J Pediatr Nurs ; 18(3): 181-6, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12796860

RESUMO

A telephone survey of mothers of children with mitochondrial disease (n = 29) or phenylketonuria (PKU) (n = 29) revealed that mothers of children with mitochondrial disease report greater stress and worry, less satisfaction with social supports, greater difficulty meeting their child's extra care needs, and more impact on multiple aspects of their personal lives. They also reported more missed days of work and used a greater number of health care services and personal resources. Interventions must be developed that address the demands of biochemical genetic disorders, particularly those with the uncertain trajectory of mitochondrial disease.


Assuntos
Efeitos Psicossociais da Doença , Doenças Mitocondriais/economia , Mães/psicologia , Fenilcetonúrias/economia , Estresse Psicológico/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Gastos em Saúde/estatística & dados numéricos , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças Mitocondriais/terapia , New England , Fenilcetonúrias/terapia , Vigilância da População , Fatores Socioeconômicos
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