Modelo de gestión para la atención integral de pacientes con enfermedades huérfanas o raras en Colombia

Las enfermedades raras o huérfanas corresponden a aquellas con baja prevalencia en la población, y en varios países tienen una definición distinta de acuerdo con el número de pacientes que afectan en la población. La Organización Mundial de la Salud (OMS), las define como un trastorno que afecta de 650 a 1.000 personas por millón de habitantes, de las que se han identificado alrededor de 7.000. En Colombia su prevalencia es menor de 1 por cada 5.000 personas y comprenden: las enfermedades raras, las ultra-huérfanas y las olvidadas. Los pacientes con este tipo de enfermedades imponen retos a los sistemas sanitarios, pues si bien afectan a un bajo porcentaje de la población, su atención implica una alta carga económica por los costos que involucra su atención, la complejidad en su diagnóstico, tratamiento, seguimiento y rehabilitación. El abordaje de las enfermedades raras requiere un manejo interdisciplinar e intersectorial, lo que implica la organización de cada actor del sistema sanitario para su manejo a través de un modelo que abraque las dinámicas posibles entre ellos y las competencias de cada uno. Por lo anterior, y teniendo en cuenta la necesidad de formular políticas sanitarias específicas para la gestión de estas enfermedades, el presente trabajo presenta una aproximación a la formulación de un modelo de gestión para la atención integral de pacientes con enfermedades raras en Colombia. Esta investigación describe los distintos elementos y características de los modelos de gestión clínica y de las enfermedades raras a través de una revisión de literatura, en la que se incluye la descripción de los distintos actores del Sistema de Salud Colombiano, relacionados con la atención integral de estos pacientes para la documentación de un modelo de gestión integral.

Genetic basis of Sjögren's syndrome. How strong is the evidence?

Sjögren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence of primary SS in siblings has been estimated to be 0.09% while the reported general prevalence of the disease is approximately 0.1%. The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. In this review, the genetic component of SS is discussed on the basis of three known observations: (a) age at onset and sex-dependent presentation, (b) familial clustering of the disease, and (c) dissection of the genetic component. Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder.

Experience in the Surgical Management of Abdominal Compartment Syndrome in the Hospital Occidente de Kennedy

The abdominal compartment syndrome (ACS) is the result of various physiological alterations produced by an abnormal increase of the intra-abdominal pressure. Some of these patients will undergo a surgical procedure for its management. Methods: This is a retrospective case series of 28 patients with ACS who required surgical treatment at the Hospital Occidente de Kennedy between 1999 and 2003. We assessed retrospectively the behavior of McNelis’s equation for prediction of the development of the ACS. Results: The leading cause of ACS in our study was intraabadominal infection (n=6 21,4%). Time elapsed between diagnosis and surgical decompression was less than 4 hours in 75% (n=21) of the cases. The variables that improved significantly after the surgical decompression were CVP (T: 4,0 p: 0,0001), PIM (T: 2,7; p: 0,004), PIA (T1,8; p:0,034) and Urine Output (T:-2,4; p:0,02). The values of BUN, Creatinine and the cardiovascular instability did not show improvement. The ICU and hospital length of stay were 11 days (SD: 9) and 18 days (SD13) respectively. Global mortality was 67,9% (n=19) and mortality directly attributable to the syndrome was 30% (n=8). The behavior of the McNelis’s equation was erratic. Conclusions: The demographic characteristics as well as disease processes associated with ACS are consistent with the literature. The association between physiological variables and ACS is heterogeneous between patients. Mortality rates attributable to ACS in our institution are within the range described world-wide. The behavior of the McNelis’s equation seems to depend greatly upon fluid balance.