Who is most affected 

  • women more common than men (2.3:1)

Incidence/prevalence 

  • annual incidence

    • 0.9 to 12.9 per 100,000 worldwide

    • 6.5 per 100,000 in 2008 in USA

  • prevalence 8.1 to 204 per 100,000

Likely risk factors 

  • family history of CD

  • Down syndrome 

  • HLA haplotype DR3-DQ2 

Possible risk factors 

  • cesarean section 

  • Turner syndrome 

  • Williams syndrome 

Factors not associated with increased risk: in children 

  • breastfeeding duration, age, concurrent infection or gastroenteritis at time of gluten introduction 

  • pertussis, Haemophilus influenzae type b, and measles/mumps/rubella vaccines

Associated conditions 

  • Malignancy 

    • lymphoma

    • small bowel and stomach cancer

    • non-Hodgkin lymphoma 

  • Dermatologic 

    • dermatitis herpetiformis 

    • xerosis

    • keratosis pilaris

  • Immunologic 

    • IgA deficiency 

    • common variable immune deficiency 

  • Rheumatologic 

    • Sjogren syndrome

    • rheumatoid arthritis

  • Gastrointestinal 

    • esophagitis

    • microscopic colitis 

    • irritable bowel syndrome

  • Endocrine 

    • diabetes mellitus type 1

    • thyroid disease in children

  • Neurologic 

    • epilepsy

  • Kidney disease 

    • IgA nephropathy 

  • Liver disease 

    • non-alcoholic fatty liver disease, PBCs, autoimmune cholangitis, elevated liver transaminases

Causes 

  • autoimmune disorder with 2 primary components

    • genetic predisposition (presence of HLA-DQ2 or HLA-DQ8 haplotypes)

    • environmental trigger (ingestion of gluten-a  storage protein found in wheat, barley, and rye)

History 

  • Chief concern 

    • gastrointestinal symptoms may include chronic diarrhea, chronic constipation, abdominal pain, nausea vomiting, distended abdomen, and flatulence

    • abdominal complaints most common clinical presentation among children

  • Review of systems 

    • extraintestinal signs and symptoms may include

      • failure to thrive, stunted growth, delayed puberty

      • chronic anemia, osteopenia/osteoporosis, dental enamel defects, irritability, chronic fatigue, neuropathy, arthritis/arthralgia, amenorrhea, increased alanine aminotransferase (ALT) and aspartate aminotransferase (AST)

Physical

  • Skin 

    • dermatitis herpetiformis

  • HEENT 

    • aphthous stomatitis 

    • teeth discolored or enamel defects

  • Abdomen 

    • abdominal distention, bloating with pain or cramping 

  • Neuro 

    • peripheral neuropathy 

Making the diagnosis 

  • confirm diagnosis if both

    • positive CD-specific serology 

    • histologic changes in small intestinal mucosa include

      • partial to complete villous atrophy

      • crypt lengthening with increase in lamina propria

      • increase in intraepithelial lymphocytes

  • may need gluten challenge testing (if patients already on gluten-free diet, which can lead to normal serology and histology)

Differential diagnosis 

  • other causes of villous atrophy include
    • tropical sprue

    • collagenous sprue 

    • autoimmune enteropathy

    • AIDS enteropathy

  • allergic enterocolitis (milk protein allergy, soy allergy, rice allergy)

  • infectious gastroenteritis

  • microscopic colitis  

  • lymphoma 

This article originally appeared on Cancer Therapy Advisor