ABSTRACT
Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.
Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 8 , Ezetimibe , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Humans , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/diagnosis , Male , Colombia , Phytosterols/adverse effects , Phytosterols/genetics , Intestinal Diseases/genetics , Intestinal Diseases/diagnosis , ATP Binding Cassette Transporter, Subfamily G, Member 8/genetics , Hypercholesterolemia/genetics , Hypercholesterolemia/drug therapy , Hypercholesterolemia/diagnosis , Ezetimibe/therapeutic use , Xanthomatosis/genetics , Xanthomatosis/pathology , Xanthomatosis/diagnosis , Anticholesteremic Agents/therapeutic use , Anticholesteremic Agents/administration & dosage , Mutation , ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , Homozygote , Child , Heterozygote , Lipoproteins/geneticsABSTRACT
INTRODUCCIÓN: Los drusen de papila son depósitos de material hialino calcificado a nivel de la cabeza del nervio óptico. Pueden ser difíciles de distinguir de la verdadera inflamación del nervio óptico y su identificación correcta es relevante debido a la morbilidad visual y sistémica que conlleva el diagnóstico de un verdadero edema de papila. OBJETIVO: Describir los hallazgos clínicos en un grupo de pacientes con drusen de papila. MATERIAL Y MÉTODO: Estudio descriptivo retrospectivo de 39 casos de pseudoedema de papila secundario a drusen de papila. Se recuperaron datos de la historia clínica y se analizaron características oftalmológicas y de los métodos complementarios (campo visual computarizado CVC-, tomografía de coherencia óptica OCT- , ecografía y neuroimágenes). RESULTADOS: Se estudiaron 39 ojos. La edad promedio al diagnóstico fue de 9 años. La mayoría no reporto antecedentes patológicos ni heredofamiliares. El principal motivo de consulta fue control de rutina y el segundo fue cefalea. El 56% tenían una excelente agudeza visual, 20% buena, 2.5% regular y 5% mala agudeza visual. El 36% de los ojos fueron emétropes, 41% hipermétropes y 23% miopes. Los hallazgos más representativos en el fondo de ojos fue la sobreelevación papilar (71,8% IC95% 57,9-86), papila de bordes borrados (43% IC95% 27,4-58,5) y tortuosidad vascular (43,6% IC95% 27,4-58,5). En todos los casos la ecografía fue diagnóstica, mostrando imágenes hiperecoicas dentro del nervio óptico. En el CVC no se encontraron hallazgos relevantes. CONCLUSIONES: Los drusen de papila son una alteración que puede encontrarse con frecuencia en un examen de fondo de ojo de rutina, y que un oftalmólogo debe conocer para evitar errores diagnósticos. (AU)
INTRODUCTION: Papillary drusen are deposits of calcified material at the level of the optic nerve head. It's can be difficult to distinguish from true optic nerve swelling. Its correct identification is relevant due to the visual and systemic implications of the diagnosis of true papilledema. OBJECTIVE: To characterize clinically a group of patients diagnosed with papillary drusen. MATERIAL AND METHODS: A retrospective descriptive study of 39 eyes with papillary pseudoedema secondary to optic nerve drusen was performed. Data from the medical history were retrieved and characteristics of the ophthalmological medical examination and complementary methods such as optical coherence tomography (OCT), computerized visual fields, and ocular ultrasound were analyzed. RESULTS: 39 eyes of 20 patients with papillary drusen were studied. The average age at diagnosis was 9 years. The majority did not report pathological or heredofamilial background. The main complain consultation was routine check out and the second was headache. The 56% had excellent visual acuity, 20% good, 2.5% regular and 5% had poor visual acuity. There were 36% emmetropic eyes, 41% hypermetropics and 23% myopia. The most representative findings in the fundus were swollen disks, appearing in (71,8% IC95% 57,9-86) of the cases, optic nerve with ill-defined and vascular tortuosity, appeating in 43,6% (IC95% 27,4-58,5) of the cases. In all cases the ultrasound was diagnostic, showing hyperechoic images withing the optic nerve. No relevant findings were found at CVC. CONCLUSIONS: Papillary drusen is a frequent disease that can be found in every day practice. Ophthalmologist should be aware of this to avoid misdiagnosis. (AU)
