Rare  disease  from  an  NHS  clinician's  perspective

Charles  van  HeyningenFRCPath.  

Questions  How  does  the  current  system  work?

Where  does  it  work  well and  where  not?

Are  patients  sent  from  department  to  department?  

Do  you  need  interdisciplinary  teams  to  make  a  diagnosis?

What  makes  it  challenging?

What  would  you  like  to  change?

Referral:  obvious  or  subtle.

Unusual  test  results

• Total  cholesterol.                4.0• Triglycerides.                              2.8• HDL-­‐cholesterol.            <  0.1  • LDL-­‐ cholesterol.                  1.1    mmol/L

Rapid  diagnosis:

• Specialist  • protocols  • network

Difficult  diagnosis

Need  for  specialist labour  intensive  tests

Patient  puzzled.  Information  overload.

Multiple specialties:  Blood  sciences,  genetics,  histopathology,  

radiology.

Good  quality  information

European  porphyria  initiative

What  would  I like  to  change?