Peter Gillett Consultant Paediatric Gastroenterologist RHSC Edinburgh Background Early 1970s first published association Many studies confirm association Gastrointestinal problems common Nonspecific presentation ID: 931913
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Slide1
Screening for Coeliac Disease in Down Syndrome: Yes or No?
Peter Gillett
Consultant Paediatric Gastroenterologist
RHSC Edinburgh
Slide2Background
Early 1970’s first published association
Many studies confirm association
Gastrointestinal problems common
Non-specific presentation
Long-term issues
Viability of screening vs expectant watching
Slide3Screening
At least 10 studies….
Failla P 1996 JPGN 7/57 (12.2%)
Carlsson A 1998 Peds 8/43 (18.6%)
Book L 2000 Am J Med genet 10/97 (10.3%)
Hill I 2000 J Peds 2/10 (20%)
Carnicer J 2001 Eur J Gastr Hep 18/284 (6.3%)
Cassandra G 2000 J Peds 11/137 (8%)
Bonamico M 2001 JPGN 55/1202 (4.6%)
Slide4Screening
Why screen?
Patients at identified increased risk
Parents / patient willing and understanding
Accurate and cost effective
Easy for the patient
Treatment acceptable and effective
Know your own population prevalence
Slide5Screening
History and symptoms: Bonamico 2001
diarrhoea,vomiting,FTT,anorexia,constipation,
distension higher in CD +
Hb, Calcium, Iron lower in CD +
69% classic presentation
11% atypical symptoms
20% silent
30.9% autoimmune disorders
Mean delay in diagnosis 3.8 years from onset
Slide6Screening
What to use
Exclude sIgA deficiency
Antigliadin antibodies
disappointing, still useful under age two?
Antiendomysial antibodies
currently most utilised, best validated
cost
Tissue Transglutaminase antibodies
most attractive for screening
Slide7Screening
tTG ELISA
in-house or kit
50p per test (lab cost for consumables, in-house)
Two stage testing
tTG then EmA in positives
Need to know IgA status
DQ typing, ? If cost effective in UK
“Celiac panel” > $200 ? If cost effective
Our lab £10 - 20 for AGA / EmA
Nb Know how good your lab’s results are!
Slide8Screening
How to do it?
Venepuncture vs fingerprick
Gillett HR et al 1997 Horm Res
capillary samples (Monovette) 10-20 microl
filter paper samples
Easy to do this in community and send by post
school nurses
Slide9Screening
Main concerns??
asymptomatics
consequences of positive test (next step)
risks and benefits
how often to screen
problems in other patient groups (parental and professional attitudes to screening)
adherence to diet
Slide10Screening
Case study
45 year old female
iron deficiency anaemia since age 20
tired, occasional loose stools
diagnosis menorrhagia as cause
mother initiated referral
(actually post menopausal on detailed history)
Positive biopsy
Slide11Screening
All about education and awareness
parents
public
colleagues
Slide12Screening
What about long-term worries
Upper GI cancer and lymphoma especially
Satge D 1998 Am J Med Genet 78: 207- 16
cancer in excess in DS
20 fold leukaemia risk
solid tumours globally underrepresented
But lymphoma, gonadal and extra-gonadal, retinoblastoma, pancreatic, bone increased
genetic influence but ? Environmental influence
Slide13Screening
Bone health
? Dietary intake of DS patients
osteoporosis more common in DS
CD found in osteoporotics more commonly
Van Allen M Am J Med Genet 1999 89:100-110
long bone, vertebral fractures 57% overall
None had CD (on clinical grounds, no serology)
Slide14Screening
Other auto-immune conditions and coeliac
Ventura A 1999 Gastroenterology
Coeliac and AI conditions in childhood
prevalence related to duration of exposure
most patients 77.5% AI diagnosed pre-coeliac
BUT Sategna Guidetti C 2001Gut 30% adult CD have at least 1 AI disease 2-3 X controls
35% presented with AI after CD (ie on GFD)
Larizza D 2001 J Ped
CD in AI thyroid disease 7/90 (7.8%)
Slide15Screening: Discussion
DSMIG recommendations / questions
common sensical, practical guide
who to test? All or selective
enough evidence to screen?
how often to test?
long-term issues not clear as to risks
UK prevalence in DS (we don’t know!)
compelling evidence from some studies
National recommendations?