Von Hippel-Lindau Disease

WHAT IS IT?

Von Hippel-Lindau disease is a genetic condition that is characterized by the presence of capillary hemangioblastomas in the retina brainstem, and/or cerebellum. It is also characterized by congenital cysts/neoplasms in the kidney, liver, and pancreas. 

WHAT CAUSES IT?

This condition is caused by a deletion of the VHL gene (chromosome 3). VHL is a tumor suppressor, and it inhibits hypoxia inducible factor 1a. This results in an autosomal dominant inheritance pattern for this condition. 

WHY IS IT CONCERNING MEDICALLY?

Patients are at increase risk for renal cell carcinoma which can be bilateral. 

It is also associated with pheochromocytoma 

WHAT IS THE INTIAL PRESENTATION?

Patient Chief Complaints:

 

Detected Medical Problems:

 

WHAT ARE IMPORTANT ELEMENTS OF THE MEDICAL HISTORY?

Risk Factors:

 

Medical History:

 

WHAT ARE IMPORTANT FEATURES OF THE PHYSICAL EXAM?

Vital Signs:

 

Other:

 

CLINICAL WORKUP: SERUM STUDIES

 

CLINICAL WORKUP: IMAGING

 

CLINICAL WORKUP: OTHER

 

HOW DO WE NARROW THE DIFFERENTIAL?

Conditions that present similarly and how to exclude them:

 

WHAT IS OUR THRESHOLD FOR DIAGNOSING THIS CONDITION?

 

PATIENT MANAGMENT: SYMPTOM RELEIF

 

PATIENT MANAGEMENT: DISEASE TREATMENT

 

PATIENT MANAGEMENT: PROPHYLACTIC MEASURES

 

COULD THIS HAVE BEEN PREVENTED?

 

ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

 

Page Updated: 04.06.2017