AJGP 2018 0102 Clinical Coeliac
AJGP 2018 0102 Clinical Coeliac
AJGP 2018 0102 Clinical Coeliac
Jason A Tye-Din COELIAC DISEASE is an immune illness, coeliac disease serology, but this is
triggered by dietary gluten, that causes a uncommon and excluding other causes of
broad range of gastrointestinal and extra- villous atrophy (see below) is important.
This article is the second in a series intestinal manifestations.1 Untreated Testing at-risk individuals is strongly
on pathology testing. Articles in this disease reduces quality of life, increases recommended to detect cases before
series aim to provide information about
healthcare use and is associated with substantial morbidity develops.3,6 An
emerging laboratory tests that general
practitioners (GPs) may encounter. substantial morbidity.2–4 Mortality is active case-finding approach can improve
increased because of lymphoproliferative detection of coeliac disease by more than
Background malignancy, sepsis and refractory 40-fold,7 but this only works when doctors
Coeliac disease is one of most prevalent disease.3 As 1.5% of Australians have are mindful of the disease. Approximately
autoimmune illnesses encountered
coeliac disease, it is one of the most 30 at-risk individuals need to be tested
in general practice, and GPs have a
common autoimmune illnesses that to find a positive case of coeliac disease.7
central role in its diagnosis and follow-
up. Key challenges are improving its general practitioners (GPs) will encounter. There is insufficient evidence to support
poor rate of detection, distinguishing it However, its broad and often subtle population screening.8 Figure 2 provides
from ‘gluten sensitivity’, and monitoring presentation makes detection challenging, an outline of a recommended diagnostic
and optimising treatment to enhance and means 80% of Australians with pathway.
long‑term outcomes. coeliac disease remain undetected.5 As
Objective
expeditious diagnosis and treatment with When to test for coeliac disease
The objective of this article is to review a strict, lifelong gluten-free diet (GFD)
the evidence-based use of serology, minimises long-term complications,3 Symptoms and clinical features that
histology and genetic testing in the application of the appropriate tests to identify patients who might benefit
diagnosis and follow-up care of adults ensure accurate diagnosis and follow-up from testing are shown in Table 1.9
and children with coeliac disease. is crucial. ‘Classical’ symptoms caused by intestinal
Discussion inflammation, such as diarrhoea and
Recognition and testing of at-risk Making the diagnosis weight loss, are frequent, but the ‘non-
patients are keys to expediting classical’, extra-intestinal manifestations
the diagnosis of coeliac disease. In clinical practice, suspected patients are even more common. These non-
Knowing when and how to use are generally screened with coeliac classical features include lethargy,
serology, histology, human leukocyte
disease serology. In patients with headaches, osteoporosis, iron deficiency,
antigen typing and gluten challenge
positive coeliac disease serology, the transaminase elevation, infertility, other
will increase the accuracy of both
diagnosis and disease monitoring. diagnosis is confirmed by the presence autoimmune disease and dermatitis
of characteristic small intestinal mucosal herpetiformis. A positive family history
changes. The key diagnostic features are: of coeliac disease carries the strongest
• intestinal histology showing raised predictive value for the disease.
intraepithelial lymphocytes (>25 per
100 enterocytes), crypt hyperplasia and Tips and pitfalls
villous atrophy (Figure 1) • Coeliac disease can develop at any age.
• disease remission confirmed by The median age of diagnosis is 40 years,
symptom resolution, normalised coeliac but do not discount coeliac disease in
disease serology and, most reliably and the young and elderly.
importantly, mucosal healing following • Coeliac disease affects both sexes,
treatment with a GFD.3,6 with a modest female predominance.
Correlation of histology and serology Men with coeliac disease are often
with clinical history is important. Coeliac overlooked.5
disease can be present despite negative • Coeliac disease is a global disorder that
28 | REPRINTED FROM AJGP VOL. 4 7, NO. 1–2, JAN–FEB 2018 © The Royal Australian College of General Practitioners 2018
INTERPRETING TESTS FOR COELIAC DISEASE CLINICAL
© The Royal Australian College of General Practitioners 2018 REPRINTED FROM AJGP VOL. 47, NO. 1–2, JAN–FEB 2018 | 29
CLINICAL INTERPRETING TESTS FOR COELIAC DISEASE
30 | REPRINTED FROM AJGP VOL. 4 7, NO. 1–2, JAN–FEB 2018 © The Royal Australian College of General Practitioners 2018
INTERPRETING TESTS FOR COELIAC DISEASE CLINICAL
Doctor considers
coeliac disease
(Table 1)
Following a gluten-free diet
Positive
tTG and/or DGP
Coeliac disease unlikely
Specialist review
Characteristic Normal
coeliac histology histology Equivocal
Coeliac disease
Specialist review
Not coeliac disease Needs further investigation
Note: If CD serology is such as review of pathology,
consistently positive consider HLA DQ2/8 genotyping, and
Follow-up to confirm ‘potential coeliac disease’ possibly gluten challenge and
improvement on GFD repeat biopsies
underlying nutrient deficiencies, disease. If HLA susceptibility is present the age of four years if they are well
reduced bone density, or have symptom but coeliac disease serology is normal, the and symptom-free.
improvement following a GFD (indicating individual is at risk for future development • Remind your patients with coeliac
they were never asymptomatic), this of the disease. Repeat coeliac disease disease that their relatives are at
means all relatives, irrespective of serology would be recommended if increased risk of the disease and
symptom status, should be considered for they develop suggestive symptoms. If should be considered for testing.
screening.21 First-degree relatives should asymptomatic, some experts recommend
be screened, and if there are several screening every two to three years during Paediatric testing
affected family members second-degree childhood to avoid the detrimental effects
relatives should also be tested. of unrecognised coeliac disease on growth Although similar to adults, there are
Family screening using HLA DQ2/8 and bone health.13 additional considerations when assessing
genotyping with coeliac disease serology children for coeliac disease.22 New
is more informative than serology alone.16 Tips and pitfalls European guidelines, based on evidence
A relative without HLA susceptibility • Screening children with a family history that high-titre tTG is strongly predictive
does not require monitoring for coeliac of coeliac disease can be delayed until of coeliac disease in children, suggest
© The Royal Australian College of General Practitioners 2018 REPRINTED FROM AJGP VOL. 47, NO. 1–2, JAN–FEB 2018 | 31
CLINICAL INTERPRETING TESTS FOR COELIAC DISEASE
32 | REPRINTED FROM AJGP VOL. 4 7, NO. 1–2, JAN–FEB 2018 © The Royal Australian College of General Practitioners 2018
INTERPRETING TESTS FOR COELIAC DISEASE CLINICAL
© The Royal Australian College of General Practitioners 2018 REPRINTED FROM AJGP VOL. 47, NO. 1–2, JAN–FEB 2018 | 33