Page Contents
- 1 WHAT IS IT?
- 2 WHAT CAUSES IT?
- 3 WHY IS IT CONCERNING MEDICALLY?
- 4 WHAT IS THE INTIAL PRESENTATION?
- 5 WHAT ARE IMPORTANT ELEMENTS OF THE MEDICAL HISTORY?
- 6 WHAT ARE IMPORTANT FEATURES OF THE PHYSICAL EXAM?
- 7 CLINICAL WORKUP: SERUM STUDIES
- 8 CLINICAL WORKUP: IMAGING
- 9 CLINICAL WORKUP: OTHER
- 10 HOW DO WE NARROW THE DIFFERENTIAL?
- 11 WHAT IS OUR THRESHOLD FOR DIAGNOSING THIS CONDITION?
- 12 PATIENT MANAGMENT: SYMPTOM RELEIF
- 13 PATIENT MANAGEMENT: DISEASE TREATMENT
- 14 PATIENT MANAGEMENT: PROPHYLACTIC MEASURES
- 15 COULD THIS HAVE BEEN PREVENTED?
- 16 ARCHIVE OF STANDARDIZED EXAM QUESTIONS
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