Malabsorption syndromes

Celiac and Whipple Disease

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 G liadin , 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

8. 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

9. 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

10. 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.

11. Clinical Manifestations Opthalmoplegia

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

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

14. 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 .