Celiac disease physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Common physical examination findings of celiac disease include [finding 1], [finding 2], and [finding 3].
Physical Examination
Appearance
The patient may appear pale and fatigued.
Skin/Mucous Membrane
- Dermatitis herpetiformis
- Alopecia
- Scaly dermatitis
- Easy bruisability
HEENT
Gastrointestinal
The diarrhoea characteristic of coeliac disease is pale, voluminous and malodorous. Abdominal pain and cramping, bloatedness with abdominal distention (thought to be due to fermentative production of bowel gas) and mouth ulcers[1] may be present. As the bowel becomes more damaged, a degree of lactose intolerance may develop. However, the variety of gastrointestinal symptoms that may be present in patients with coeliac disease is great, and some may have a normal bowel habit or even tend towards constipation. Frequently the symptoms are ascribed to irritable bowel syndrome (IBS), only later to be recognised as coeliac disease; a small proportion of patients with symptoms of IBS have underlying coeliac disease, and screening may be justified.[2]
Coeliac disease leads to an increased risk of both adenocarcinoma and lymphoma of the small bowel, which returns to baseline with diet. Longstanding disease may lead to other complications, such as ulcerative jejunitis (ulcer formation of the small bowel) and stricturing (narrowing as a result of scarring).[3]
Musculoskeletal
- Non-specific bone and/or joint pain
- Fractures - Osteopenia
- Tetany
Neurological
The changes in the bowel make it less able to absorb nutrients, minerals and the fat-soluble vitamins A, D, E, and K.
- The inability to absorb carbohydrates and fats may cause weight loss (or failure to thrive/stunted growth in children) and fatigue or lack of energy.
- Anaemia may develop in several ways: iron malabsorption may cause iron deficiency anaemia, and folic acid and vitamin B12 malabsorption may give rise to megaloblastic anaemia.
- Calcium and vitamin D malabsorption (and compensatory secondary hyperparathyroidism) may cause osteopenia (decreased mineral content of the bone) or osteoporosis (bone weakening and risk of fragility fractures).
- A small proportion (10%) have abnormal coagulation due to deficiency of vitamin K, and are slightly at risk for abnormal bleeding.
- Coeliac disease is also associated with bacterial overgrowth of the small intestine, which can worsen malabsorption, or cause malabsorption after treatment.[4]
Miscellaneous
Coeliac disease has been linked with a number of conditions. In many cases it is unclear whether the gluten-induced bowel disease is a causative factor or whether these conditions share a common predisposition.
- IgA deficiency is present in 2% of patients with coeliac disease, and in turn this condition features a tenfold increased risk of coeliac disease.[5][6] Other features of this condition are an increased risk of infections and autoimmune disease.
- Dermatitis herpetiformis; this itchy cutaneous condition has been linked to a transglutaminase enzyme in the skin, features small bowel changes identical to those in coeliac disease[7] and occurs more often (in 2%) in patients with coeliac disease.
- Neurological associations: epilepsy, ataxia (coordination problems), myelopathy and peripheral neuropathy have all been linked with coeliac disease, but the strength of these associations and the causality is still subject of debate.[8]
- Growth failure and/or pubertal delay in later childhood can occur even without obvious bowel symptoms or severe malnutrition. Evaluation of growth failure often includes coeliac screening.
- Miscarriage and infertility.
- Hyposplenism (a small and underactive spleen) - it is unclear whether this actually increases infection risk in the same way as in other people without a functioning spleen.[9]
- Other auto-immune disorders: diabetes mellitus type 1,[10] autoimmune thyroiditis,[11] primary biliary cirrhosis[12] and microscopic colitis.[13]
References
- ↑ Ferguson R, Basu M, Asquith P, Cooke W (1976). "Jejunal mucosal abnormalities in patients with recurrent aphthous ulceration". Br Med J. 1 (6000): 11–13. PMID 1247715.
- ↑ Spiegel BM, DeRosa VP, Gralnek IM, Wang V, Dulai GS (2004). "Testing for celiac sprue in irritable bowel syndrome with predominant diarrhea: a cost-effectiveness analysis". Gastroenterology. 126 (7): 1721–32. PMID 15188167. Unknown parameter
|month=ignored (help) - ↑ "American Gastroenterological Association medical position statement: Celiac Sprue". Gastroenterology. 120 (6): 1522–5. 2001. PMID 11313323.
- ↑ Tursi A, Brandimarte G, Giorgetti G (2003). "High prevalence of small intestinal bacterial overgrowth in celiac patients with persistence of gastrointestinal symptoms after gluten withdrawal". Am J Gastroenterol. 98 (4): 839–43. PMID 12738465.
- ↑ Crabbé P, Heremans J (1967). "Selective IgA deficiency with steatorrhea. A new syndrome". Am J Med. 42 (2): 319–26. PMID 4959869.
- ↑ Collin P, Mäki M, Keyriläinen O, Hällström O, Reunala T, Pasternack A (1992). "Selective IgA deficiency and coeliac disease". Scand J Gastroenterol. 27 (5): 367–71. PMID 1529270.
- ↑ Marks J, Shuster S, Watson A (1966). "Small-bowel changes in dermatitis herpetiformis". Lancet. 2 (7476): 1280–2. PMID 4163419.
- ↑ Pengiran Tengah D, Wills A, Holmes G (2002). "Neurological complications of coeliac disease". Postgrad Med J. 78 (921): 393–8. PMID 12151653.
- ↑ Ferguson A, Hutton M, Maxwell J, Murray D (1970). "Adult coeliac disease in hyposplenic patients". Lancet. 1 (7639): 163–4. PMID 4189238.
- ↑ Holmes G (2001). "Coeliac disease and Type 1 diabetes mellitus - the case for screening". Diabet Med. 18 (3): 169–77. PMID 11318836.
- ↑ Collin P, Kaukinen K, Välimäki M, Salmi J (2002). "Endocrinological disorders and celiac disease". Endocr Rev. 23 (4): 464–83. PMID 12202461.
- ↑ Kingham J, Parker D (1998). "The association between primary biliary cirrhosis and coeliac disease: a study of relative prevalences". Gut. 42 (1): 120–2. PMID 9518232.
- ↑ Matteoni C, Goldblum J, Wang N, Brzezinski A, Achkar E, Soffer E (2001). "Celiac disease is highly prevalent in lymphocytic colitis". J Clin Gastroenterol. 32 (3): 225–7. PMID 11246349.