Fabry Disease

WHAT IS IT?

Fabry disease is a lipid storage disorder. 

WHAT CAUSES IT?

An alpha galactosidase A deficiency is the base cause of this condition. 

WHY IS IT CONCERNING MEDICALLY?

 

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: 04.20.2017