La importancia de la genética en el estudio de la hipertrigliceridemia / The importance of genetics in the study of hypertriglyceridemia

La hipertrigliceridemia engloba un conjunto de trastornos lipídicos comunes en la práctica clínica, generalmente definidos como una concentración superior a 150mg/dL en ayunas. Existen diversas clasificaciones de la gravedad de la hipertrigliceridemia en función de sus valores séricos, considerándose por norma general moderada cuando los niveles son inferiores a 500mg/dL y severa cuando son mayores de 1.000mg/dL. Su importancia radica en su asociación con otras alteraciones del perfil lipídico, contribuyendo al aumento del riesgo cardiovascular y de pancreatitis aguda, fundamentalmente con concentraciones superiores a 500mg/dL.(AU)

Hypertriglyceridemia encompasses a set of lipid disorders common in clinical practice, generally defined as a fasting concentration above 150mg/dL. There are various classifications of the severity of hypertriglyceridaemia based on serum values, with levels generally considered moderate when below 500mg/dL and severe when above 1000mg/dL. Its importance lies in its association with other alterations in the lipid profile, contributing to increased cardiovascular risk and increased risk of acute pancreatitis, mainly with concentrations above 500mg/dL.(AU)

[The importance of genetics in the study of hypertriglyceridemia]. / La importancia de la genética en el estudio de la hipertrigliceridemia.

Hypertriglyceridemia encompasses a set of lipid disorders common in clinical practice, generally defined as a fasting concentration above 150mg/dL. There are various classifications of the severity of hypertriglyceridaemia based on serum values, with levels generally considered moderate when below 500mg/dL and severe when above 1000mg/dL. Its importance lies in its association with other alterations in the lipid profile, contributing to increased cardiovascular risk and increased risk of acute pancreatitis, mainly with concentrations above 500mg/dL.

Forma monogénica de hipertensión arterial secundaria / Monogenic form of secondary arterial hypertension

Entre las causas de hipertensión arterial secundaria se incluyen múltiples entidades diagnósticas, por lo que un cribado apropiado es fundamental para diagnosticar aquellas patologías potencialmente tratables. Los síndromes genéticos ocupan un pequeño porcentaje de estas causas. Dentro de este último grupo se incluye el síndrome de Liddle, rara enfermedad genética con herencia autosómica dominante, causado por mutaciones de ganancia de función en los genes que codifican para el canal epitelial de sodio (ENaC), implicados en la reabsorción de sodio en los túbulos renales distales. La presencia de historia familiar de hipertensión arterial con aparición a edad temprana e hipopotasemia en alguno de ellos debería llevar a la sospecha de este trastorno genético, que debe confirmarse con pruebas genéticas. Describimos un caso, confirmado genéticamente, en el cual la hipertensión arterial refractaria a tratamiento convencional es la única manifestación de dicho síndrome, dificultando y retrasando el diagnóstico, hasta la edad adulta.(AU)

Multiple diagnostic entities are included among the causes of secondary arterial hypertension, so an appropriate screening is essential to diagnose potentially treatable pathologies. Genetic syndromes occupy a small percentage of these causes. The latter group includes Liddle syndrome, a rare genetic disease with autosomal dominant inheritance, caused by gain-of-function mutations in the genes that code for the epithelial sodium channel (ENaC), involved in sodium reabsorption in the distal renal tubules. The presence of a family history of arterial hypertension with onset at an early age and hypokalemia in some of them should lead to the suspicion of this genetic disorder, which must be confirmed with genetic tests. We describe a case, genetically confirmed, in which hypertension refractory to conventional treatment is the only manifestation of said syndrome, making diagnosis difficult and delayed until adulthood.(AU)

[Monogenic form of secondary arterial hypertension]. / Forma monogénica de hipertensión arterial secundaria.

Multiple diagnostic entities are included among the causes of secondary arterial hypertension, so an appropriate screening is essential to diagnose potentially treatable pathologies. Genetic syndromes occupy a small percentage of these causes. The latter group includes Liddle syndrome, a rare genetic disease with autosomal dominant inheritance, caused by gain-of-function mutations in the genes that code for the epithelial sodium channel (ENaC), involved in sodium reabsorption in the distal renal tubules. The presence of a family history of arterial hypertension with onset at an early age and hypokalemia in some of them should lead to the suspicion of this genetic disorder, which must be confirmed with genetic tests. We describe a case, genetically confirmed, in which hypertension refractory to conventional treatment is the only manifestation of said syndrome, making diagnosis difficult and delayed until adulthood.

Arterial hypertension of infrequent cause

Arterial hypertension is generally classified as primary or essential (90%), and secondary (10%). Infrequent causes of the latter include Cushing's syndrome, classified as ACTH-dependent and independent. A small percentage of ACTH-independent cases are due to ectopic ACTH secretion, generally due to neoplasia, and can present as arterial hypertension and hyperglycaemia that are refractory to pharmacological measures, metabolic alkalosis and hypokalaemia that are difficult to control, but which help guide the initial diagnosis. We present two clinical cases with a diagnosis of ectopic ACTH secretion secondary to small cell lung carcinoma, in which one of the debut manifestations was unknown, difficult to control arterial hypertension.(AU)

La hipertensión arterial generalmente se clasifica en primaria o esencial (90%) y secundaria (10%). Entre las causas infrecuentes de esta última se encuentra el síndrome de Cushing, el cual se clasifica en hormona adrenocorticotropa (ACTH) dependiente e independiente. Un pequeño porcentaje de los casos de ACTH independiente son debidos a la secreción ectópica de ACTH, generalmente por neoplasias, pudiendo tener como manifestaciones, hipertensión arterial e hiperglucemia refractarias a medidas farmacológicas, alcalosis metabólica e hipopotasemia de difícil control, que por otra parte, sirven como orientación diagnóstica inicial. Presentamos dos casos clínicos con diagnóstico de secreción ectópica de ACTH secundaria a carcinoma microcítico de pulmón, en los que una de las manifestaciones principales al debut fue una hipertensión arterial no conocida de difícil control.(AU)

Síndrome de encefalopatía posterior reversible (PRES) como forma de presentación de una amiloidosis AL / Posterior reversible encephalopathy syndrome (PRES) as a presentation of AL amyloidosis

El síndrome de encefalopatía posterior reversible (PRES) constituye una entidad clínico-radiológica relacionada con múltiples etiologías con hallazgos similares en neuroimagen. Su incidencia es desconocida y su patogenia es multifactorial, englobando fenómenos de disfunción endotelial y autorregulación del flujo cerebral, entre otros. Existe una gran variedad de condiciones asociadas, siendo las más frecuentes la hipertensión, eclampsia y la terapia inmunosupresora, junto con otros fármacos, drogas, enfermedades autoinmunes e incluso la uremia. Presentamos el caso de un síndrome de encefalopatía posterior reversible secundario a afectación renal como forma de debut de una amiloidosis AL.(AU)

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity linked to multiple aetiologies with similar neuroimaging findings. Its incidence is unknown, and its pathogenesis is multifactorial, encompassing phenomena of endothelial dysfunction and cerebral flow autoregulation, inter alia. There is a wide variety of associated conditions, the most frequent being hypertension, eclampsia, and immunosuppressive therapy, along with other drugs, autoimmune diseases, and even uraemia. We present the case of a reversible posterior encephalopathy syndrome secondary to renal involvement as a debut form of AL amyloidosis.(AU)

[Posterior reversible encephalopathy syndrome (PRES) as a presentation of AL amyloidosis]. / Síndrome de encefalopatía posterior reversible (PRES) como forma de presentación de una amiloidosis AL.

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity linked to multiple aetiologies with similar neuroimaging findings. Its incidence is unknown, and its pathogenesis is multifactorial, encompassing phenomena of endothelial dysfunction and cerebral flow autoregulation, inter alia. There is a wide variety of associated conditions, the most frequent being hypertension, eclampsia, and immunosuppressive therapy, along with other drugs, autoimmune diseases, and even uraemia. We present the case of a reversible posterior encephalopathy syndrome secondary to renal involvement as a debut form of AL amyloidosis.

Arterial hypertension of infrequent cause.

Arterial hypertension is generally classified as primary or essential (90%), and secondary (10%). Infrequent causes of the latter include Cushing's syndrome, classified as ACTH-dependent and independent. A small percentage of ACTH-independent cases are due to ectopic ACTH secretion, generally due to neoplasia, and can present as arterial hypertension and hyperglycaemia that are refractory to pharmacological measures, metabolic alkalosis and hypokalaemia that are difficult to control, but which help guide the initial diagnosis. We present two clinical cases with a diagnosis of ectopic ACTH secretion secondary to small cell lung carcinoma, in which one of the debut manifestations was unknown, difficult to control arterial hypertension.