RESUMO
Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can cause lung and liver disease in adults and children. Homozygosity for the Z phenotype is the principal cause of AATD. There are about 100,000 people with AATD in the United States (not including the Island of Puerto Rico), and about the same number in Europe. Despite being one of the most common potentially lethal genetic diseases among Caucasian adults, AATD often remains unidentified, in part because related pulmonary symptoms often do not manifest until midlife when significant pulmonary functional degradation has already occurred. Our study aims to determine what is the prevalence of AATD in a specific population in Puerto Rico.
Assuntos
Deficiência de alfa 1-Antitripsina/epidemiologia , alfa 1-Antitripsina/sangue , Adulto , Alelos , Feminino , Genótipo , Humanos , Masculino , Prevalência , Porto Rico/epidemiologia , Kit de Reagentes para Diagnóstico , População Urbana , alfa 1-Antitripsina/genéticaRESUMO
Sleep complaints are very common among the general population and are usually accompanied by significant medical, psychological and social disturbances (Redline S, Strohl K, Otolaryngol Clin North Am, 132:303, 1999). A higher prevalence of sleep complaints has been described in the elderly (Vgontzas AN, Kales A, Annu Rev Med, 50:387-400, 1999). It is manifested by breathing disturbances during sleep, loud snoring, difficulties maintaining sleep, fatigue, daytime sleepiness, mood effects and impairment of daily activities (Lugaresi E, Cirignotta F, Zucconi M et al., Good and poor sleepers: an epidemiological survey of the San Marino population, Raven, New York, pp 1-12, 1983; Kales A, Soldatos CR, Kales JD, Am Fam Physician, 22:101-108, 1980). It has been associated with cardiovascular, endocrine and neurocognitive manifestations. Growing interest in early diagnosis and treatment has been noted in recent years based on emerging knowledge about the potential health consequences when the disease goes untreated (Nanen AM, Dunagan DP, Fleisher A et al., Chest, 121:1741, 2002). The veteran population in the mainland has a higher tendency for obesity, high blood pressure (HBP), sleep disorders and chronic alcohol consumption (Mustafa M, Erokwu N, Ebose I, Strohl K, Sleep Breath, 9:57-63, 2005). The Hispanic veteran population has never been studied in detail for sleep disorders and related conditions. We used previously validated screening tools for sleep disturbance breathing. Two hundred and forty-five questionnaires were administered. We found a higher prevalence of Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) in our population compared with data from the mainland (USA). The mean age was 64 years (+/-11). Ninety seven per cent were males. The mean body mass index was 25 kg/cm(2); mean Epworth Sleepiness Scale score was 8. Thirty-four per cent met high-risk criteria for sleep apnea, 53% for insomnia, 13% for symptoms suggestive of narcolepsy and 13% for those suggestive of restless leg syndrome. There were high incidences of alcohol consumption (37.6%), diabetes (32.7%), hypercholesterolemia (31.8%), depression (31.8%), hypertension (39.6%) and post-traumatic stress disorder (PTSD) (9.8%).