RESUMO
OBJECTIVE: To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. STUDY DESIGN: Case series of adolescents referred to a tertiary clinic for the evaluation of CFS. All subjects had 2-dimensional echocardiography, tests of orthostatic tolerance, and examinations by both a geneticist and an ophthalmologist. RESULTS: Twelve patients (11 female), median age 15.5 years, met diagnostic criteria for CFS and EDS, and all had either postural tachycardia or neurally mediated hypotension in response to orthostatic stress. Six had classical-type EDS and 6 had hypermobile-type EDS. CONCLUSIONS: Among patients with CFS and orthostatic intolerance, a subset also has EDS. We propose that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences. These observations suggest that a careful search for hypermobility and connective tissue abnormalities should be part of the evaluation of patients with CFS and orthostatic intolerance syndromes.
Assuntos
Síndrome de Ehlers-Danlos/complicações , Síndrome de Fadiga Crônica/complicações , Hipotensão Ortostática/complicações , Adolescente , Adulto , Pressão Sanguínea , Criança , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Fadiga Crônica/diagnóstico , Feminino , Frequência Cardíaca , Humanos , Hipotensão Ortostática/diagnóstico , MasculinoRESUMO
Five out of six albino persons in Puerto Rico suffer from the Hermansky-Pudlak syndrome. This syndrome has been reported also in other countries such as Great Britain, the Netherlands, Belgium, and Mexico, among others. Due to the geographical isolation of the island it is likely that these patients share a common ancestor. In explaining how the gene may have arrived to Puerto Rico the following possibilities are considered: (1) British soldiers attacking the island since 1595. (2) Dutch attackers in 1625. (3) aboriginal tribes. (4) slave traders.