RESUMO
Assuntos
Angioedemas Hereditários/epidemiologia , Ansiedade/epidemiologia , Depressão/epidemiologia , Absenteísmo , Angioedemas Hereditários/economia , Animais , Efeitos Psicossociais da Doença , Progressão da Doença , Humanos , Prevalência , Qualidade de VidaRESUMO
This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and the impact of treatment on health care payment systems. Specifically, the cost burden of hereditary angioedema on patients, health care systems, and society is reviewed. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and overall burden of disease is explored. Changes in treatment paradigms to improve effect and reduce cost of treatment are presented.
Assuntos
Angioedemas Hereditários/epidemiologia , Angioedemas Hereditários/terapia , Doenças Raras , Efeitos Psicossociais da Doença , Descoberta de Drogas/economia , Descoberta de Drogas/legislação & jurisprudência , Farmacoeconomia , Saúde Global , Custos de Cuidados de Saúde , Humanos , Prevalência , Mecanismo de ReembolsoRESUMO
Hereditary angioedema (HAE) is a rare genetic syndrome caused by a deficiency in functional C1 inhibitor that results in recurrent episodes of nonpruritic swelling of the hands, feet, arms, legs, trunk, face, genitalia, bowels, and larynx beginning in childhood or adolescence and continuing throughout the patient's lifetime. Treatment for acute HAE attacks in the United States has been transformed by new therapies that inhibit the underlying mechanisms of angioedema- notably ecallantide, a potent and specific inhibitor of plasma kallikrein, and icatibant, a selective bradykinin receptor antagonist. These treatments, combined with safer formulations of plasma-derived C1 esterase inhibitor concentrate for HAE prophylaxis and acute treatment, have greatly improved the quality of life for people with HAE, many of whom can now lead fairly normal lives. This article reviews the current therapeutic landscape for HAE, including treatment for acute angioedema attacks, short- and long-term HAE prophylaxis, and home-based therapy.
Assuntos
Angioedemas Hereditários/tratamento farmacológico , Angioedemas Hereditários/prevenção & controle , Prevenção Secundária/métodos , Adolescente , Angioedemas Hereditários/fisiopatologia , Bradicinina/análogos & derivados , Bradicinina/uso terapêutico , Criança , Ensaios Clínicos como Assunto , Efeitos Psicossociais da Doença , Feminino , Humanos , Masculino , Peptídeos/uso terapêutico , Gravidez , Resultado do Tratamento , Estados Unidos , Adulto JovemRESUMO
Hereditary angioedema (HAE) is characterized by nonpitting, nonpruritic subcutaneous, or submucosal edema that may be accompanied by a nonpruritic serpentine erythematous rash. The swelling in this autosomal dominantly inherited disorder is mediated by uncontrolled localized bradykinin production. The extremities, face, gastrointestinal tract, genitalia, larynx, and trunk are commonly involved. Nearly one-third of patients who are not treated may suffer asphyxiation from a laryngeal attack. HAE symptoms overlap with other conditions that cause swelling. An accurate diagnosis is therefore crucial when considering therapy. Recently approved treatments for HAE swelling attacks include C1 esterase inhibitor concentrate and ecallantide. This case describes a 41-year-old woman who was treated ineffectively for more than 20 years, was switched to an effective therapy, but suffered near fatal laryngeal edema due to a missed dose of the effective therapy. The case underscores the need for increased awareness of HAE among clinicians and the importance of good compliance to therapy among patients with HAE.
Assuntos
Angioedemas Hereditários/complicações , Angioedemas Hereditários/tratamento farmacológico , Proteínas Inativadoras do Complemento 1/uso terapêutico , Edema Laríngeo/etiologia , Adulto , Proteínas Inativadoras do Complemento 1/administração & dosagem , Feminino , Humanos , Unidades de Terapia Intensiva/economia , Intubação Intratraqueal , Edema Laríngeo/terapia , Adesão à Medicação , Resultado do TratamentoRESUMO
Hereditary angioedema (HAE) is a rare, autosomal dominant disorder characterized by recurrent acute attacks of swelling of the larynx, abdomen, and periphery. This study was designed to assess the humanistic burden of illness associated with HAE. HAE burden was assessed via a web-based survey of patients that solicited information on attack characterization, treatment, side effects, pain, and functional and emotional burden of disease management. In addition to HAE-specific sections, the survey used three standardized instruments to compare HAE patient data to normative (healthy) and chronic disease populations: the 12-Item Short Form (SF-12) Health Survey, the Work Productivity and Activity Impairment-General Health (WPAI-GH) questionnaire, and the Hamilton Depression Inventory-Short Form (HDI-SF). A total of 457 HAE patients responded to the survey (response rate, â¼19%). Patients reported significantly poorer health-related quality of life versus population norms, based on the SF-12 Physical Component Summary (mean, 43.7 versus 49.6; p < 0.001) and Mental Component Summary (mean, 42.6 versus 49.4; p < 0.001). HAE patients also had higher mean HDI-SF scores than population norms (8.1 ± 6.5 versus 3.1 ± 3.0; p < 0.001), with 42.5% of HAE patients scoring >8.5, indicative of depressive symptomatology. Productivity was also markedly impaired in all WPAI-GH categories, including 34% overall work impairment. Because of their most recent HAE attack, workers lost a mean of 3.3 days; students lost a mean of 1.9 days. HAE results in considerable humanistic burden to patients across physical and mental health domains; negatively impacts education, career, and work productivity; and compounds the substantial economic burdens that are reported separately.