Celiac disease is an autoimmune disorder caused by a reaction to gluten, resulting in damage to the small intestine and malabsorption. It is characterized by the absence of intestinal villi and infiltration of lymphocytes into the epithelium. Symptoms include diarrhea, abdominal pain, and malnutrition. Diagnosis is confirmed via small bowel biopsy showing damage to intestinal villi. Treatment requires strict lifelong adherence to a gluten-free diet. Whipple's disease is a rare infection caused by a bacterium that infiltrates the small intestine, causing macrophages to obstruct lymphatic drainage and resulting in malabsorption. It commonly affects the joints and brain and is treated with intravenous antibiotics. Both conditions can lead to complications due to severe vitamin and

1. Malabsorption
Syndromes
Shyala Chand
Group 3

2. Celiac Disease
• Chronic, auto immune inflammatory disorder
of the small bowel occurring in genetically
susceptible individuals.
• Caused by a reaction to Gliadin, a gluten
protein found in wheat, rye and barley
resulting in malabsorption.
• Female dominant, occurring at any age
(common in 1-5 years)

3. • Etiology:
 Environmental- Gliadin
 Immunologic- IgA antigliadin, antiendomysial, anti tissue
transglutaminase (tTG)
 Genetic- HLA-DQ2, HLA-DQ8
• Pathophysiology:
 Helper T cells mediate the inflammatory response.
 Absence of intestinal villi and lengthening of intestinal crypts
characterize the mucosal lesions in untreated celiac disease. More
lymphocytes infiltrate the epithelium (intraepithelial lymphocytes).
 Destruction of the absorptive surface of the intestine leads to a
maldigestive and malabsorption syndrome

4. Clincal Manifestation
• Gastrointestinal symptoms:
Diarrhoea- stools might be watery or
semiformed, light tan or gray, and oily or frothy
and have a characteristic foul odor.
Recurrent abdominal pain, distension, bloating
and cramping.
Malabsorption and anorexia.
Constipation
Lactose intolerance
Pancreatitis/ Hyposplenism

5. • Non GI symptoms
In females, may also cause miscarriages,
infertility and early menopause.

6. Diagnosis
• Lab Investigations:
Full blood count – anemia, features of hyposplenism
(target cells, spherocytes, Howell-Jolly bodies)
Biochemical tests- reduced calcuim, total protein,
albumin, Vit D, Vit B12 and Folic acid levels
Electrolytes
Prothrombin time - prolonged
Antibodies-

7. • Imaging:
 GOLD STANDARD- Endoscopic
small bowl biopsy.
 Findings:
 scalloping of the small bowel
folds
 paucity in the folds
 a mosaic pattern to the mucosa -
cracked-mud appearance
 prominence of the sub mucosal
blood vessels
 a nodular pattern to the mucosa

9. • Treatment:
 Correct existing deficiencies of iron, folate, calcuim and/or Vit D
 Lifelong Gluten-free diet
• Complications:
 Enteropathy associated T-cell lyphoma
 Small bowel carcinoma
 Squamous carcinoma of esophagus
 Ulcerative Jejunitis
 Osteomalacia, Osteoporosis
 Peripheral Neuropathy

10. Refractory Disease
• This may be because:
The disease has been present for so long that
the intestines are no longer able to heal on
diet alone
The patient is not adhering to the diet
 Because the patient is consuming foods that
are inadvertently contaminated with gluten
In this case steroids and immunosuppresents
should be considered

11. Whipple’s Disease
• Chronic, multisystemic disease caused by Gram +
bacillus Tropheryma whipplei.
• Commonly affects middle aged white males (>40 years)
• Pathophysiology:
Infilteration of bacteria within macrophages in bowel
mucosa.
 Villi are widened and flattened, containing densely
packed macrophages in the lamina propria, which
obstruct lymphatic drainage and cause fat
malabsorption.
 Patients with HIV infection do not acquire the disease.

12. Clinical Manifestations
• Opthalmoplegia

13. Diagnosis
• Lab investigations:
Full blood count- anemia due to
malabsorption
Stool Culture
Lumbar Puncture
Polymerase chain reaction- identification of
bacillus

14. • Imaging:
Small bowel biopsy- characteristic foamy
appearance of macrophages
MRI - assess brain involvment

15. • Treatment:
Fatal if untreated
Intravenous ceftriaxone (2mg daily for 2 weeks)
Oral co-trimoxazole for at least 1 year
• Complications:
Relapse (in 30% of patients with severe CNS
maifestations – treated with doxycycline and
hydroxychloroquine).
Severe deficiencies due to malabsorption.