Gastrointestinal · Year 2 · from Gastrointestinal
Case 1: Celiac Disease
Patient Presentation
Demographics: 32-year-old female
Chief Complaint: Chronic diarrhea, bloating, and fatigue for 2 years
History of Present Illness: The patient reports 2 years of loose, pale, foul-smelling stools (3-4 per day) with excessive gas and bloating. She has lost 15 pounds despite normal appetite. She experiences persistent fatigue and has noticed a pruritic, blistering rash on her elbows and knees. Her menstrual periods have become irregular.
Past Medical History: Iron deficiency anemia treated with oral iron (poor response), hypothyroidism
Family History: Maternal aunt has "gluten problems," mother has type 1 diabetes
Physical Examination
- Vital Signs: BP 108/68 mmHg, HR 88 bpm, BMI 19
- General: Thin female appearing fatigued
- Abdomen: Mildly distended, hyperactive bowel sounds, mild diffuse tenderness
- Skin: Groups of small vesicles and erosions on extensor surfaces of elbows and knees (dermatitis herpetiformis)
- Musculoskeletal: Tenderness over tibiae (suggest osteomalacia)
Workup and Results
- CBC: Hemoglobin 10.2 g/dL, MCV 76 fL (microcytic)
- Iron Studies: Low ferritin, low iron, elevated TIBC
- tTG-IgA: 156 U/mL (markedly elevated, normal <20)
- Total IgA: Normal (ruling out IgA deficiency)
- Upper Endoscopy with Duodenal Biopsies: Scalloped duodenal folds, mosaic pattern; histology shows Marsh 3b (subtotal villous atrophy), crypt hyperplasia, >40 intraepithelial lymphocytes per 100 enterocytes
- DEXA: Osteopenia (T-score -1.8)
Duodenal biopsy showing villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes characteristic of celiac disease (Marsh 3). Normal villous architecture is lost.
Image Source: Wikimedia Commons, CC BY-SA 3.0
Diagnosis
Celiac Disease with Dermatitis Herpetiformis
Clinical Correlation
Celiac disease is an immune-mediated enteropathy triggered by gluten (gliadin in wheat, hordein in barley, secalin in rye) in genetically susceptible individuals carrying HLA-DQ2 or HLA-DQ8. Tissue transglutaminase deamidates gliadin peptides, creating epitopes that trigger CD4+ T cell responses. The resulting inflammation causes villous atrophy, reducing absorptive surface area and causing malabsorption. Iron deficiency anemia results from duodenal iron malabsorption. Dermatitis herpetiformis is the skin manifestation, pathognomonic for celiac disease. Untreated celiac disease increases risk for osteoporosis, infertility, and enteropathy-associated T-cell lymphoma.
Treatment
- Strict, lifelong gluten-free diet (avoid wheat, barley, rye)
- Dietitian referral for education
- Monitor tTG-IgA levels (should normalize with adherence)
- Iron, calcium, and vitamin D supplementation
- Repeat endoscopy to confirm mucosal healing
- Screen first-degree relatives
- DEXA monitoring and treatment of osteopenia