charles van heyningen - cambridge rare diseases summit 2015
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Rare disease from an NHS clinician's perspective
Charles van HeyningenFRCPath.
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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?
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Referral: obvious or subtle.
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Unusual test results
• Total cholesterol. 4.0• Triglycerides. 2.8• HDL-‐cholesterol. < 0.1 • LDL-‐ cholesterol. 1.1 mmol/L
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Rapid diagnosis:
• Specialist • protocols • network
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Difficult diagnosis
Need for specialist labour intensive tests
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Patient puzzled. Information overload.
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Multiple specialties: Blood sciences, genetics, histopathology,
radiology.
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Good quality information
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European porphyria initiative
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What would I like to change?