diane & robin rust congress centre london the patient perspective 22nd november 2012 registered...
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DIANE & ROBIN RUSTCONGRESS CENTRE LONDON
THE PATIENT PERSPECTIVE22ND NOVEMBER 2012
REGISTERED CHARITY No. 802727
WHAT IS MARFAN SYNDROME?
• Variable Disorder of Connective tissue
• Picture Left : 9 year old boy undiagnosed until 15 years
• Incidence of Marfan syndrome in the UK is 1 in 3,300
Orphanet: Marfan SyndromeIndication: Criteria for disease: Marfan Syndrome (FBN1)http://www.orpha.netConsultant document, results published by European Marfan Centres
in 2007. Incidence 1 in 3,300 to 1 in 5,000
Page 2 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
INVESTIGATING A POSSIBLE DIAGNOSIS
• Eyes – Dislocation, Detached Retina
• Heart – Aortic Dissection
• Lungs – Pneumothorax
• Extended Extremities and other skeletal deformities
• Hereditary disorder
Page 3 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
TOGETHER WE CAN
Patient & Care Team
Cardiac Surgeon
Ophthalmologist
Cardiac Nurse Specialist
General Practitioner
Orthopaedic Surgeon
Page 4 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
CHALLENGES OF “SYNDROMES”
Less chance of missing a “vital piece of the jigsaw” that helps diagnosis
More people that are screened in the family of any age
Page 5 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
CONTINUITY OF CARE
• Delays hold back the healing process
• Who’s Driving?• Not the patient!
Page 6 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
ONE STOP SHOP
• One Stop Shop• All specialists in the same place
at the same time
• This facilitates early diagnosis• saves time in instigating
treatment• Which saves lives• And money
• And saves patient stress• Travelling time and• fatigue
Page 7 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
REMAINING CHALLENGE
A Very Classic Marfan Case Involving At Least Two Generations
Page 8 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
DIAGNOSTIC CRITERIA CONCERNS
• As the Criteria become more specific it raises doubts concerning diagnosis amongst GPs and Lay People
BERLINGHENT 1GHENT 2
Page 9 18/04/23‘Working with Marfan Syndrome and
Overlapping Disorders’REGISTERED CHARITY No. 802727
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