Clinical study of hereditary disorders of connective tissues in a Chilean population

Abstract

Objective. To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS).Methods. Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.Results. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).Conclusion. JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.Hippocrates first described hypermobile joints 2,400 years ago, but the condition of joint hypermobility was not described as a medical problem until 1967, by Kirk et al (1). Although many people have hypermobile joints, the general public as well as many physicians consider hypermobility to be a curiosity rather than a potentially serious medical problem (2,3). The prevalence of hypermobility is difficult to evaluate because it varies with age, sex, and ethnic background and because multiple criteria are being used. It is more frequent in female subjects and children, is more frequent in Asian than in black populations, and is more frequent in both Asian and black populations than in whites. It is generally agreed that it exists in ϳ10% of individuals in Western populations (4) and up to 25% in Iraqis (5). Most cases of joint hypermobility are pauciarticular rather than generalized, which makes the diagnosis more difficult. Because of this, many people are unaware of having lax joints (6). In spite of this laxity in the joints, most people with hypermobility do not experience joint or musculoskelet...

Prevalence of generalised joint hypermobility in school-aged children from east-central European region

“…It ranges from 2% to 71% [3,7,8,11,14,[16][17][18][19]. Age, sex, and ethnic subjection have influenced the prevalence of GJH in different societies [2,3,7,13,15].…”

Prueba de basculación (Tilt Table Testing): Comparación de dos protocolos: isoproterenol versus nitroglicerina

“…Se postula que se debe a la mayor frecuencia de hiperlaxitud ligamentosa en las mujeres [10][11][12] , lo que las predispone a los sínco-pes. Después de los 40 años y hasta los 69, se puede ver una moderada caída en los resultados positivos.…”

“…Después de los 40 años y hasta los 69, se puede ver una moderada caída en los resultados positivos. Esto se debería a la disminución (relativa) en la frecuencia de síncopes en esas edades [10][11][12] . Esta frecuencia vuelve a subir después de los 70 años debido a la aparición de hipotensión ortostática, cardiopatías orgánicas, neuropatías autonómicas y enfermedades degenerativas del sistema nervioso autónomo 5,6,11,13 .…”

Ehlers-Danlos Syndrome or Disease?

“…Grahame, Gazit, Bravo and Bulbena were among the first to make a shift in the clinical perception of the syndrome and progressively added other manifestations (such as pain, dysautonomia, pathological anxiety and digestive disturbances) and found functional limitations which were the cause of disability [11,[15][16][17]. They thus bridged the gap between joint hypermobility syndrome and EDS-hyper mobile type [18], resulting in a reliable clinical entity, characterized by patterns of easy-to-identify clinical symptoms which have very strong diagnostic value on their own and when taken together with the existence of similar cases in a patient's family.…”