Volanesorsén, esperanza terapéutica para el síndrome de quilomicronemia familiar / Volanesorsén, therapeutic hope for family chylimicronemia syndrome

Objective: To reduce severe hypertriglyceridaemia and episodes of pancreatitis in patients with familial chylomicronemia syndrome (FCHS), in whom the response to diet and triglyceride (TG) lowering treatment has not been sufficient. Method: A 46-year-old woman diagnosed with genetically confirmed FFCS, with heterozygous presence of two variants and very severe elevation of triglycerides (≥2000 mg/dL), multiple admissions for acute pancreatitis since the age of 19, with associated side effects such as pancreatoprive Diabetes Mellitus with need for insulin and severe hepatic steatosis with grade I fibrosis diagnosed by liver biopsy. Given the intolerance to fibrates and insufficient response to diet and high doses of ω-3 fatty acids, we started treatment with Volanesorsen. Result: After 6 admissions for acute pancreatitis from January to April 2020, treatment with Volanesorsen was started on 7 August. Platelets at the start of treatment were 283x103/mm3 and triglycerides 1878 mg/dL. Platelet monitoring was performed every 2 weeks and at all times the figure remained >140x103/mm3. The treatment was well tolerated and after three months, the targets for continuing Volanesorsen were reached, reducing TG by more than 25% and reaching 624 mg/dL with platelets in the normal range. Conclusion: Volanesorsen is indicated as an adjunct to diet in adult patients with genetically confirmed FQS at high risk of pancreatitis, in whom the response to diet and triglyceride-lowering treatment has not been sufficient. (AU)

Objetivo: Reducción de la hipertrigliceridemia severa y episodios de pancreatitis en pacientes con síndrome de quilomicronemia familiar (SQF), en quienes la respuesta a la dieta y al tratamiento de reducción de triglicéridos (TG) no ha sido suficiente. Material y método: Mujer de 46 años diagnosticada de SQF confirmado genéticamente, con presencia en heterocigosis de dos variantes y con elevación muy grave de triglicéridos (≥2000 mg/dL), múltiples ingresos por pancreatitis agudas desde los 19 años, con efectos colaterales asociados como Diabetes Mellitus pancreatopriva con necesidad de insulina y esteatosis hepática severa con fibrosis grado I diagnosticada por biopsia hepática. Ante la intolerancia a fibratos e insuficiente respuesta a la dieta y altas dosis de ácidos grasos ω-3, iniciamos tratamiento con Volanesorsén. Resultado: Tras 6 ingresos por pancreatitis aguda desde enero hasta abril de 2020, el 7 de agosto inicia tratamiento con Volanesorsén. Plaquetas al inicio del tratamiento de 283x103/mm3 y triglicéridos 1878 mg/dL. Se realizó una monitorización plaquetaria cada 2 semanas y en todo momento la cifra se mantuvo >140x103/mm3 . El tratamiento fue bien tolerado y tras tres meses, se alcanzan los objetivos para poder continuar con Volanesorsén, reduciendo los TG más del 25% y alcanzando 624 mg/dL con plaquetas en rango de la normalidad. Conclusión: Volanesorsén está indicado como complemento a la dieta en pacientes adultos con SQF confirmado genéticamente y con riesgo alto de pancreatitis, en quienes la respuesta a la dieta y al tratamiento de reducción de triglicéridos no ha sido suficiente. (AU)

Impacto de un cribado oportunista de hipercolesterolemia familiar (estudio CRIBACOL) en el area sanitaria de Vigo / Impact of an Opportunist Screening for Family Hypercholesterolemia (CRIBACOL study) in the sanitary area of Vigo

Objective: To assess the effectiveness of the diagnosis of Familial Hypercholesterolemia (FH) through opportunistic screening in the health area of Vigo. Material and Methods: An opportunistic screening was carried out retrospectively on all patients in the Vigo Health Area who had been requested to determine their LDLc during 2018. The inclusion criterion was LDL>250 mg/dL, and the exclusion criteria (TSH >4 mIU/L, A1C>6.5%, fasting glucose>126 mg/dL, Triglycerides>150 mg/dL, GGT>55 IU/L and/or alkaline phosphatase>135 IU/L, proteinuria>3g/ L and serum albumin <30g/L). Opportunistic screening was performed using the Modulab Gold (IZASA) program. Results: The total number of LDL determinations was 236,528 out of 185,095 patients. 233 patients met the inclusion criteria. 162 were discarded due to the exclusion criteria. 71 patients with a possible diagnosis of HF were obtained. These patients underwent a clinical interview applying the criteria of the Dutch Lipid Clinics Network (DLCN). The results were: men (21.12%) and women (78.87%); the mean age was 58 years; had hypertension (22.53%), diabetes (1.4%), smoker (23.49%), received statins (63.38%). The results of applying the DLCN criteria were diagnosis possible (53.52%), probable (32.39%) and certain (14.08%). Conclusion: HF is an underdiagnosed and undertreated disease. The application of an opportunistic screening method with an alarm system for health professionals who request lipid profiles can make an early diagnosis of this disease with high cardiovascular risk. (AU)

Mujer con paragangliomatosis múltiple: una revisión del aspecto genético / Multiple paraganglioma in a female patient: review of genetic features

Presentamos el caso de una paciente con clínica de exceso de catecolaminas, con confirmación bioquímica y pruebas de imagen compatibles con paraganglioma. Aunque presentó datos de hiperparatiroidismo e hipergastrinemia que obligaron a descartar una neoplasia endocrina múltiple tipo 1 y 2 (MEN), finalmente se diagnosticó de paragangliomatosis múltiple. Esta entidad se asocia a mutaciones de los genes SDHB-C-D, que en nuestro caso se confirmó la mutación del último. El conocimiento de la genética, mutaciones, tipo de transmisión, vías de tumorogénesis, de estas entidades está en pleno desarrollo, por lo que se presenta una revisión de los últimos datos (AU)

We report the case of a female patient who presented with symptoms of catecholamine excess. Urinary catecholamines were elevated. Radiologic tests were compatible with paraganglioma. High parathyroid hormone and gastrin values were also detected, which excluded multiple endocrine neoplasia type 1 and 2. Finally, the patient was diagnosed with multiple paraganglioma. This entity is associated with mutations in the SDHB-C-D genes. An SDHD mutation was found in our patient. The genetic bases, mutations, genotype-phenotype associations, and tumorigenesis of SDH are currently being studied. The present article provides a review of the most recent data (AU)

Multiple paraganglioma in a female patient: review of genetic features.

We report the case of a female patient who presented with symptoms of catecholamine excess. Urinary catecholamines were elevated. Radiologic tests were compatible with paraganglioma. High parathyroid hormone and gastrin values were also detected, which excluded multiple endocrine neoplasia type 1 and 2. Finally, the patient was diagnosed with multiple paraganglioma. This entity is associated with mutations in the SDHB-C-D genes. An SDHD mutation was found in our patient. The genetic bases, mutations, genotypephenotype associations, and tumorigenesis of SDH are currently being studied. The present article provides a review of the most recent data.