CELIAC

DISEASE

Fildzah Badzlina, S.Gz., M.K.M.

DEFINITION

– An autoimmune disease that damages the small intestinal villous epithelium

when there is ingestion of gluten (gliadin), which is commonly found in the
wheat, rye, barley, and oats of cereal grains
– A multiorgan disease with a strong genetic predisposition associated with
human leukocyte antigen DQ2 (HLADQ2) and HLA-DQ8
– Also known as celiac sprue or gluten-sensitive enteropathy
– The onset and first occurrence of symptoms may appear any time from infancy
to adulthood, but the peak in diagnosis occurs between the fourth and sixth
decade
 Epidemiology

African populations, especially Western

US and Europe ±1% Sahara, have the highest celiac disease
prevalence in the world (5,6%)

Prevalence

Indonesia HLA-DQ2 prevalence is less

Northern European country ±1,5% than 5%, so it is estimated that celiac
disease will be rarely found

(Cummins & Roberts-Thomson 2009; World Gastroenterology Organisation 2016)

Prevalence Celiac Disease in the
World
Symptoms And Conditions Associated
with Celiac Disease
 Pathophysiology

– The major pathophysiologic characteristic: HLA-DQ2 (or HLADQ8) induced CD4+ T-cell–mediated
autoimmune injury to the small intestinal epithelial cells of genetically susceptible individuals
– A combination of four factors: (1) genetic susceptibility, (2) exposure to gluten, (3) an environmental
“trigger,” and (4) an autoimmune response.
– Gluten refers to specific peptide fractions of proteins (prolamines) found in wheat (glutenin and gliadin), rye
(secalin), and barley (hordein). These peptides are generally more resistant to complete digestion by
gastrointestinal enzymes and may reach the small intestine intact. In persons with Celiac Disease, these
peptides travel from the intestinal lumen, across the intestinal epithelium, and into the lamina propria,
where they can trigger an inflammatory response that results in flattening of intestinal villi and elongation of
the crypt cells (secretory cells), along with a more general systemic immune response. The levels of
transglutaminase 2 IgA (TG2) and endomysial IgA autoantibodies closely correlate with the acute phase of
the disease in the presence of gluten.
1 2

3
– The numbers of intraepithelial lymphocytes, atrophy and flattening of villi, crypt hyperplasia in
the upper small intestine, and malabsorption of most nutrients in the presence of cereal gluten
(particularly wheat, rye, and barley) are increased.
1. The atrophy is caused by accelerated shedding of epithelial cells from the villi. To compensate
for this loss, epithelial cell production increases, causing hypertrophy of the crypts of Lieberkühn
(Glands lining the small intestine which secrete the intestinal juice). Increased cell production is
not sufficient to keep pace with cell loss, and the cells are not mature enough to sustain
absorptive functions. The microvilli and brush border disappear, leaving patches of bald mucosa.
The loss of mucosal surface area and brush-border enzymes leads to severe malabsorption
(picture in next page).
2. Damage to the mucosa of the duodenum and jejunum exacerbates malabsorption. The secretion
of intestinal hormones, such as secretin and cholecystokinin, may be diminished. Consequently,
secretion of pancreatic enzymes and expulsion of bile from the gallbladder are reduced,
contributing to malabsorption.
3. Destruction of mucosal cells causes inflammation, and water and electrolytes are secreted, leading
to watery diarrhea. Potassium loss leads to muscle weakness. Magnesium and calcium
malabsorption can cause seizures or tetany. Unabsorbed fatty acids combine with calcium, and
secondary hyperparathyroidism increases phosphorus excretion, resulting in bone reabsorption.
Calcium is no longer available to bind oxalate in the intestine and is absorbed, which causes
hyperoxaluria. Gallbladder function may be abnormal, and bile salt conjugation may decrease. Fat
malabsorption in the jejunum is the major cause of steatorrhea (fatty stools). Deficiencies of fat-
soluble vitamins are common in children. Vitamin K malabsorption leads to hypoprothrombinemia.
In one-third of cases, iron and folic acid malabsorption is manifested as cheilosis, anemia, and a
smooth, red tongue. Vitamin B12 absorption is impaired in those with extensive ileal disease.
Because the absorption of folate and iron is greatest in the proximal small intestine, deficiencies of
these substances are common.
Manifestasi Klinis

Anak-anak <2 tahun Anak-anak >2 tahun Dewasa

Diare Diare Dispepsia/sindrom kolon iritabel
Malnutrisi Defisiensi besi Defisisensi besi
Kembung Nyeri perut Konstipasi
Muntah Dispepsia Osteoporosis
Iritabel Pertumbuhan Artritis
Atrofi otot terlambat Peningkatan transaminase
Anemia Sakit kepala Manifestasi ekstraintestinal
Pubertas terlambat
DIAGNOSIS

Uji Serologi (Pemeriksaan IgA tTG)

Endoskopi
Kapsul Endoskopi
Biopsi Usus Halus dan Histopatologi
Tes Genetik
 Algoritme
diagnosis Celiac
Disease

(Gujral et al., 2012)

Keterangan:
IgA: Immunoglobulin A
IgG: Immunoglobulin G
tTG: Tissue transglutaminase
EMA: Endomysial
HLA: Human leukocyte antigen
CD: Celiac disease
Management

Nutrition
• Gluten Free Diet
• Lactose (milk sugar) intolerance may be present because of damage
to the villi
• Vitamin and mineral supplementation
• Substitute with corn, potato, rice, soybean, tapioca, arrowroot, and
other non-gluten flours
• Calcium and vitamin D administration
• Read food labels carefully for hidden glutencontaining ingredients
• Supplementation with omega 3 fatty acids
KONSUMSI MAKANAN DARI TEPUNG

Mie Instan Kue-kuean

Gorengan Kue kering

Management

Non-Nutrition
• Zat mendegradasi atau membantu pencernaan
gluten
• Mencegah peptida gluten melewati epitel usus
• Menghambat tTG yang mengiduksi peptida gliadin
• Memblok ikatan gliadin terhadap HLA-DQ2
 PEMANTAUAN

Pasien harus diperiksa minimal dua kali dalam satu

tahun pertama setelah diagnosis

Evaluasi menggunakan densitometri pada satu tahun

pertama setelah diagnosis

Pengulangan analisis biopsi enam bulan sampai

dengan dua tahun setelah diagnosis
TERIMA KASIH