Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

A nutritional evaluation was carried out in 43 cirrhotic outpatients who came to the Digestive Disease Department of the "Edgardo Rebagliati Martins" Hospital for a checkup. The evaluation included a dietary composition analysis; nutritional status through the analysis of lean and fatty mass through anthropometric parameters (tricipital skin fold thickness, midarm muscle circumference, muscle arm circumference and creatinine excretion in the 24 -h urine/height ratio), measuring of visceral proteins (albumin, transferrin) and bioelectric Impedance. Finally, a nutritional dietary intervention was made according to international standards for cirrhotic patients. The Child - Pugh score was: Child A: 16 patients (37.1%), Child B: 20 patients (46.5%) and Child C: 7 patients (16.4%). The dietary analysis showed the following: Hypoproteic diets in 42 patients (98%), hypocaloric diets in 38 patients (88%), low fat diets in 36 patients (83.7%) only one patient had a normal diet. Nutritional status was normal in 15 patients (35%), 24 patients had protein malnutrition (56%) and 4 patients had protein-calory malnutrition (9.3%). There was an association between Child B and C and the malnutrition diagnosis was (p = 0.045). The nutritional intervention was carried out in 19 of the 43 patients (dietary therapy) during 15 months; the results were 17 hospital admissions in the group without nutritional intervention and 6 in the group that had received nutritional intervention: (p = 0.01). Malnutrition and inadequate diets are becoming a prevalent problem in our cirrhotic population. Nutritional support may provide an additional and valuable therapy to decrease patient morbidity.

Se realizó una evaluación nutricional en 43 pacientes cirróticos que acudieron a la consulta externa del Departamento de Enfermedades Digestivas del Hospital Edgardo Rebagliati Martins, la que incluyó un análisis del tipo de dieta que consumió cada paciente; una evaluación del estado nutricional basado en evaluación de masa magra y grasa a través de parámetros antropométricos (pliegue subcutáneo tricipital, circunferencia muscular del brazo, área muscular del brazo e índice de creatinina urinaria en 24 horas / talla), medición de proteínas viscerales (albúmina, transferrina) y a través de impedancia bioeléctrica, y finalmente se realizó una intervención nutricional dietética basada en los parámetros establecidos a nivel mundial. El score de Child - Pugh fue: Child A:16 pacientes (37.1%), Child B:20 pacientes (46.%) y Child C: 07 pacientes (16.4%). El análisis dietético mostró dietas hipoproteicas en 42 pacientes (98%), hipocalóricas en 38 pacientes (88%), hipograsa en 36 (83.7%) sólo 1 paciente tuvo una dieta normoproteica y normocalórica. 15 pacientes (35%) no mostraron algún grado de desnutrición, 24 pacientes (56%) tuvieron desnutrición proteica aislada y 4 pacientes(9.3%) tuvieron desnutrición calórico - proteica. Hubo asociación entre Child B y C y el diagnóstico de desnutrición (p = 0.05). De los 43 pacientes, 19 recibieron intervención nutricional (terapia dietética) por 15 meses; se produjo 17 hospitalizaciones en el grupo que no recibió intervención nutricional y 6 en los que si recibieron (p = 0.01). La desnutrición y las dietas inadecuadas se convierten en un problema prevalente en nuestra población cirrótica y la intervención nutricional dietética se convertiría en un tratamiento adicional importante que disminuiría la morbilidad en esta población.