CELIAC DISEASE IN PAKISTAN: CHALLENGES AND OPPORTUNITIES

Abstract

Celiac disease is a permanent intolerance to gluten (a
protein present in wheat, rye and barley), which
causes damage to the small intestinal mucosa by an
autoimmune mechanism in genetically susceptible
individuals. The villous atrophy that ensues can lead
to malabsorption of a variety of macro and
micronutrients including iron, calcium, folate and fat
soluble vitamins.1 Celiac disease was thought to be a
rare malabsorptive disorder of infancy and childhood.
However, it is now considered to be a common,
chronic, multi-system disorder that can present at any
age when gluten is present in the diet.
Typical symptoms of celiac disease are
abdominal pain, diarrhoea and weight loss. However,
many individuals present with non-gastrointestinal
(atypical) symptoms including anaemia, extreme
weakness, short stature, osteoporosis, elevated liver
transaminases, neuropathy, menstrual irregularities
and infertility. Additional symptoms in children
include vomiting, delayed growth and puberty and
dental enamel defects. Dermatitis herpetiformis (DH)
is '˜celiac disease of the skin' and presents with a
chronic, severely itchy, blistering rash that is poorly
responsive to conventional therapies. A skin biopsy
helps confirm the diagnosis of DH.
Celiac disease is a hereditary disorder. Both
first and second-degree relatives of the patient with
celiac disease have a significant (5-15%) risk of
developing the disorder. Other high-risk groups
include patients with autoimmune disorders, e.g.,
type 1 diabetes, thyroiditis, and Down syndrome.
Highly sensitive and specific serological
tests are available to screen for celiac disease.2,3 The
currently recommended tests are the serum IgAtissue transglutaminase antibody (TTG) and the IgAendomysial antibody (EMA). These tests have a
sensitivity and specificity of greater than 90%. The
TTG is currently the test of choice and is widely
available worldwide. IgA deficiency is common in
celiac disease and hence total serum IgA level must
also be measured to avoid a false-negative result. The
serological tests are less reliable in children under 3
years of age. Also, the patient must be consuming a
normal, gluten-containing diet at the time of testing.
A negative test does not rule out celiac disease.
Serological screening is recommended for all highrisk individuals. Patients with a positive TTG test
should be referred for endoscopic small intestinal
biopsies for confirmation of the diagnosis.
Endoscopic biopsies, still remain the gold standard
for diagnosis.
Celiac disease can be effectively treated by a
strict, life-long adherence to a gluten-free diet.
However, a gluten-free diet should not be started
before a biopsy is done, as the diet will heal the
intestinal lesion and affect the interpretation of the
biopsy making confirmation of the diagnosis
difficult.
Celiac disease is one of the most common
chronic gastrointestinal disorders in the world. The
disease occurs in about 1% of the population.1-3
However, it is estimated that 90% of these
individuals remain undiagnosed. The prevalence of
celiac disease in Pakistan is unknown. However, it is
felt to be a very common disorder both in children
and adults.
It is well recognised that awareness of celiac
disease amongst health professionals is poor and
delays in diagnosis are common. Unrecognised or
poorly treated celiac disease can lead to a variety of
complications including nutritional deficiencies like
anaemia and osteoporosis, reproductive disorders,
increased risk of developing other autoimmune
disorders and intestinal lymphoma. Serological
screening of minimally symptomatic patients or those
with atypical/non-gastrointestinal complaints can
significantly increase the rate of diagnosis of celiac
disease.4
While the gastrointestinal medical
community's main focus is on chronic viral hepatitis
and infectious diarrhoeal disorders, celiac disease
may not be getting its due attention in Pakistan. Two
aspects of this issue need to be addressed:
1. Determining the scope of celiac disease in
Pakistan
This is not known and needs to be
investigated. How common is this disease and how
does it present clinically? To answer these questions,
data from various medical institutions across the
country should be collected to study the patient
characteristics and various clinical presentations and
manifestation of celiac disease. This information
should be used for improving awareness of celiac
disease in the medical community.
J Ayub Med Coll Abbottabad 2009;21(3)
2 http://www.ayubmed.edu.pk/JAMC/PAST/21-3/Editorial.pdf
With the availability of serological testing, a
study to investigate the prevalence of celiac disease
in Pakistan should be feasible.
2. Availability of gluten-free foods in Pakistan
Although a gluten-free diet provides
effective treatment for celiac disease, this diet is
complex, costly and socially restrictive. The problem
is further compounded by the fact that wheat is the
most affordable and readily available grain in the
Pakistani diet. Alternates like rice are expensive and
outside the reach of the general population especially
for long term use. Maize can provide a less costly
alternative but contamination with gluten-containing
grains remains a concern in the flour production
process.
A gluten-free diet poses several other
challenges. Contamination with gluten-containing
grains always remains a concern. The patients live in
constant fear of this possibility. The problem can be
remedied somewhat by accurate labelling of food
products. Unfortunately, adequate food labelling laws
do not exist in Pakistan. Lobbying with the
government to enforce mandatory and accurate
labelling laws can get this process moving forward.
Availability of manufactured gluten-free
foods in Pakistan is limited. Gluten-free foods
imported from foreign countries are very expensive
and will never be affordable for masses. North
American data shows that gluten-free foods are at
least 2.5 times more expensive than their regular
counterparts. Therefore, efforts must be made in
getting the food producers and suppliers to create
gluten-free foods from locally available ingredients.
Compliance with a gluten-free diet will improve if it
is easily available and affordable.
Patient information and education remains a
cornerstone in the management of any disorder.
Pakistani Celiac Society is a recently established
national, volunteer, non-profit organization whose
mission is to provide support and services to
individuals and families with celiac disease through
programmes of awareness, advocacy and education.
The web site of the Society (www.celiac.com.pk)
contains information on various aspects of celiac
disease and gluten-free diet both in Urdu and English
languages. Printable brochures are also available
which can serve as a source of useful information
both for the patients and health professionals.
Advocacy strategies by the Society include getting
the medical profession involved in the process,
creating patient forums for sharing information and
ideas and liaison with food industry for better and
affordable locally manufactured gluten-free products.
In summary, there celiac disease in Pakistan
comes with many challenges. However, at the same
time there are some exciting opportunities. This is a
good time for medical professional organizations to
partner with patient support groups in order to
improve awareness of celiac disease in the country.
These efforts will eventually result in timely
diagnoses of celiac disease and better availability of
affordable gluten-free food products for patients. The
task is uphill but can be accomplished with
dedication and commitment.