Nutrition Diet · Supplementary · from Nutrition Diet

Case 3: Celiac Disease with Nutritional Deficiencies

Patient Presentation

Demographics: 38-year-old female elementary school teacher

Chief Complaint: "I've had diarrhea and bloating for years, and now I'm having a rash and my bones ache."

History of Present Illness: Mrs. O'Brien presents with a constellation of symptoms she has experienced to varying degrees for the past seven years. She reports chronic intermittent diarrhea (3-5 loose, bulky, foul-smelling, pale stools daily), abdominal bloating and cramping that worsens after meals, and progressive fatigue. She was previously diagnosed with irritable bowel syndrome and has been on a low-FODMAP diet with partial but incomplete symptom relief.

Over the past 12 months, her symptoms have intensified. She has developed an intensely pruritic, blistering rash on her elbows, knees, and buttocks that she initially attributed to eczema. She reports diffuse bone and joint pain, particularly in her hips and lower back. She has had two episodes of tingling and cramping in her hands and feet. She has experienced difficulty conceiving (18 months of unprotected intercourse without pregnancy). Her weight has decreased by 12 pounds despite maintaining her usual caloric intake.

She reports a history of iron deficiency anemia that was "hard to correct" with oral iron supplements. She was noted to have "low vitamin D" two years ago but did not follow up. She has a maternal cousin who was diagnosed with celiac disease in childhood.

Past Medical History:

• "Irritable bowel syndrome" (diagnosed age 31 — likely misdiagnosis)
• Iron deficiency anemia (recurrent, refractory to oral iron)
• Vitamin D deficiency (identified but not adequately treated)
• Infertility (18 months)
• Childhood history of short stature (5th percentile until age 14)

Medications:

• Dicyclomine 20 mg as needed for cramping
• Ferrous sulfate 325 mg daily (inconsistent use due to GI side effects)
• Loperamide as needed

Social History:

• Elementary school teacher
• Married; actively trying to conceive
• Non-smoker; rare alcohol
• Diet: Standard American diet with bread, pasta, cereals as staples; attempted low-FODMAP with partial relief (notably, low-FODMAP reduces but does not eliminate wheat)

Family History:

• Maternal cousin: Celiac disease (diagnosed in childhood)
• Mother: Hypothyroidism, osteoporosis
• Father: Type 1 diabetes
• Brother: Healthy

Physical Examination

• Vital Signs: BP 108/66 mmHg, HR 92 bpm, RR 16, Temp 98.6°F, BMI 19.8 kg/m²
• General: Thin female appearing fatigued; pale
• HEENT: Pale conjunctivae; angular cheilitis; dental enamel defects (horizontal grooves and pitting on permanent teeth); two aphthous ulcers on buccal mucosa
• Cardiovascular: Tachycardic; soft systolic flow murmur (anemia-related)
• Respiratory: Clear
• Abdomen: Distended; diffuse tenderness without guarding; hyperactive bowel sounds; no organomegaly
• Skin: Grouped, erythematous, vesiculopapular lesions symmetrically distributed on extensor surfaces of elbows bilaterally, knees, and buttocks; many excoriated; herpetiform pattern
• Musculoskeletal: Tenderness over bilateral iliac crests and lower thoracic spine with percussion; no deformities
• Neurological: Intact; mild decreased vibratory sense bilateral feet

Workup and Results

Laboratory Studies:

Imaging/Additional Studies:

• Upper endoscopy with duodenal biopsies: Scalloped duodenal folds; loss of villi on magnification; biopsies show Marsh 3b classification — subtotal villous atrophy with crypt hyperplasia and intraepithelial lymphocytosis (> 40 IELs per 100 enterocytes)
• DEXA scan: Lumbar T-score -2.9; femoral neck T-score -2.4 (osteoporosis)
• Skin biopsy (perilesional): Granular IgA deposits at dermal papillae on direct immunofluorescence (pathognomonic for dermatitis herpetiformis)

Clinical Image

Celiac disease pathology and nutritional consequences: comparison of normal villous architecture versus Marsh 3b villous atrophy, with a diagram of the specific nutrients malabsorbed at each intestinal segment and resulting clinical manifestations (anemia, osteoporosis, dermatitis herpetiformis, coagulopathy, neuropathy). Source: Educational illustration.

Diagnosis

Celiac Disease (Marsh 3b) with Dermatitis Herpetiformis, Iron Deficiency Anemia, Osteoporosis, Secondary Hyperparathyroidism, and Autoimmune Thyroiditis (ICD-10: K90.0, L13.0, D50.9, M81.0, E21.1, E06.3)

Key Diagnostic Criteria:

• Strongly positive serology: tTG-IgA > 10x upper limit of normal; positive EMA (highly specific)
• Duodenal biopsy confirming Marsh 3b (subtotal villous atrophy) — gold standard for diagnosis
• Dermatitis herpetiformis confirmed by granular IgA deposits on perilesional skin biopsy (pathognomonic; considered "celiac disease of the skin")
• Multiple nutritional deficiency states secondary to proximal small bowel malabsorption
• Associated autoimmune condition (Hashimoto's thyroiditis — common comorbidity)

Treatment Plan

1. Strict Lifelong Gluten-Free Diet (GFD): Complete elimination of wheat, barley, rye, and their derivatives; dietitian referral specializing in celiac disease; education on cross-contamination, hidden gluten sources (sauces, medications, communion wafers), and label reading
2. Iron Repletion: IV iron infusion (ferric carboxymaltose 750 mg x 2 doses, 1 week apart) — oral iron poorly absorbed given villous atrophy; target ferritin > 50 ng/mL
3. Vitamin D and Calcium: Vitamin D3 50,000 IU weekly for 12 weeks then 2000 IU daily; calcium citrate 600 mg BID (citrate preferred over carbonate due to better absorption in malabsorptive states); recheck at 3 months
4. Osteoporosis Management: GFD and nutrient repletion are first-line; reassess bone density with DEXA at 1-2 years after GFD; defer bisphosphonates given desire for pregnancy (teratogenic)
5. Zinc and Copper Supplementation: Zinc 30 mg daily; copper 2 mg daily; monitor levels
6. Coagulopathy: Vitamin K 10 mg PO daily for 1 week (mildly elevated INR from fat-soluble vitamin malabsorption); recheck PT/INR
7. Thyroid: Initiate levothyroxine 50 mcg daily for subclinical hypothyroidism with positive TPO antibodies; recheck TSH in 6-8 weeks
8. Dermatitis Herpetiformis: Dapsone 25 mg daily for rapid symptom control while awaiting GFD response (DH may take months to resolve on GFD alone); check G6PD before starting dapsone; monitor CBC and reticulocyte count
9. Fertility: Untreated celiac disease is associated with infertility, recurrent miscarriage, and IUGR; GFD adherence and nutritional repletion may restore fertility; refer to reproductive endocrinology if no conception within 6 months of GFD
10. Follow-up: tTG-IgA at 6 and 12 months (should decline and normalize with strict GFD); repeat endoscopy at 12-24 months to confirm mucosal healing; screen first-degree relatives

Key Learning Points

• Celiac disease affects approximately 1% of the population and is underdiagnosed — the average time from symptom onset to diagnosis is 6-10 years; unexplained iron deficiency anemia refractory to oral supplementation is one of the most common presentations in adults
• tTG-IgA is the recommended initial serological test; values > 10x the upper limit of normal with positive EMA are virtually diagnostic and some guidelines (ESPGHAN pediatric criteria) allow diagnosis without biopsy in this setting; total IgA must always be checked to exclude IgA deficiency (which causes false-negative celiac serology)
• Dermatitis herpetiformis is pathognomonic for celiac disease — it is caused by IgA-epidermal transglutaminase (eTG) antibody deposition in the skin; approximately 15-25% of celiac patients develop DH, and nearly all DH patients have intestinal villous atrophy on biopsy (even if asymptomatic gastrointestinally)
• Celiac disease causes malabsorption predominantly in the proximal small bowel (duodenum and jejunum), where iron, calcium, folate, and fat-soluble vitamins (A, D, E, K) are absorbed; this explains the characteristic pattern of deficiencies
• Celiac disease clusters with other autoimmune conditions — especially type 1 diabetes (5-10% prevalence), autoimmune thyroiditis (5-7%), and autoimmune liver disease; first-degree relatives have a 10% prevalence and should be screened

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