Von Hippel Lindau Disease: Two Sisters and one Disease

Abstract

Introduction: Von Hippel-Lindau disease is an autosomal dominantly inherited condition, which predisposes individuals to multiple malignancies. Germline pathogenic variants of the VHL gene induce individuals to specific types of benign, malignant and cyst-like tumors in many organ systems. Evaluation and treatment of these patients require a multidisciplinary approach. Penetrance is incomplete, but high in mutation carriers, so that almost all have developed characteristic tumors before the age of 60 years. The average life expectancy was less than 50 years before the current follow-up protocols, which should be started in childhood. Prognosis depends on early detection and treatment of these tumors.

Objective: To describe the evolution of the disease and the follow-up performed so far in the two sisters with similar diagnoses, but with different forms of evolution of the disease, despite being a genetic disease.

Case presentation: The case of two sisters with the same genetic disease is presented, with different cysts and tumors, as well as complications typical of their evolution, and classic images of these and their behavior are shown.

Conclusions: According to the proposed classifications for the disease, 80% are Type 1, with absence of pheochromocytoma, as in the cases of this research. The infrequent nature of the disease, the genetic characteristics and the variability of lesions in the same patient, benign and malignant, have an independent expression in each subject, as well as the response to established treatments.