48uep6bbphidcol2|ID
48uep6bbphidvals|1922
48uep6bbph|2000F98CTab_Articles|Fulltext
Oligosymptomatic celiac disease presentation is common among adults and presents a diagnostic challenge. The presence of malabsorption should be considered even in the presence of unclear momentary symptoms.
Case Report
A 47-year-old female presented to Dept. of Gastroenterology, SMS Hospital, Jaipur with complaints of muscle cramps in hands and legs and easy fatigability for the last ten years.
On further questioning, she also reported having 2 to 3 ill-formed stools/day, and borborygmi. She did not have a history of pain abdomen, fever, hematochezia, rectal urgency, or tenesmus. There was no history of any significant weight loss. There was no history of any recent travel or sexual promiscuity. She did not have a history of any significant medical illness like tuberculosis, inflammatory bowel disease, celiac disease, diabetes, or any thyroid disturbance.
On presentation to our institution, she was noted to have spontaneous spasms of her wrists consistent with tetany. Her physical examination was remarkable for carpopedal spasm and positive Chvostek’s and Trousseau’s signs. The examination was otherwise normal.
Laboratory tests revealed profound hypocalcemia with a total serum calcium of 6.7 mg/dl (normal, 9.0-10.5). Serum magnesium level was on the lower side of 1.96 mg/dl (1.8-2.1). Her hemoglobin levels was 9.7 gm/l with a predominantly microcytic picture. Other significant laboratory tests included: Spot urine Ca 2+ of 1 mg/dl, serum phosphorus 7.5 mg/dl (3.5-4.5), serum albumin 3.65 gm/l, serum PTH levels 10.9 pg/ml (11-79.5 pg/ml) and serum Vit D3 levels of 73 ng/ml. Anti-tissue transglutaminase antibody was positive with a level of >100 U/ml. Flattened duodenal folds were found on upper GI endoscopy. The diagnosis of celiac disease was confirmed by marked villous atrophy on duodenal biopsy consistent with Modified Marsh grade 3b” after duodenal biopsy.
The patient was started on a gluten-free diet, along with oral calcium, magnesium, and iron supplementation. She reported improvement in cramps and stool frequency within two weeks on follow up. On two month follow up; she had no episodes of tetany or diarrhea.
Discussion
Celiac disease is an autoimmune disease characterized by small intestinal damage typically associated with loss of absorptive villi and hyperplasia of the crypts, leading to malabsorption.1 Emphasis must be given on the clinical manifestations of the disease in adults ranging from common gastrointestinal symptoms like diarrhea, abdominal pain and weight loss to completely atypical presentations including anemia, hypocalcemia and osteoporosis.2-4
Makharia et al. had earlier emphasized that more than half of adult patients with celiac disease present with atypical manifestations. According to their analysis, chronic diarrhea was the presenting manifestation in 44% patients whereas 55% presented with other symptoms such as refractory anemia in 22.2%, short stature in 13.3%, secondary infertility or delayed menarche in 8.8%, chronic liver disease in 6.6% and metabolic bone disease in 4.4%.5
Hypocalcemia, which was the most prominent finding in our patient, is attributed to calcium malabsorption. Normally, Vitamin D absorption occurs by single passive diffusion in the small intestine, while calcium transport is via an active transcellular and a passive paracellular diffusion process. Under common dietary conditions, both human and animal studies show that duodenum is the predominant site for active calcium transport, whereas passive paracellular transport occurs throughout the small intestine. In human cumulative calcium absorption is more in jejunum and ileum due to large surface area and prolonged contact with nutrient.
Thus, in a celiac patient, three main factors contribute to reduced intestinal calcium absorption: defective active (and passive) calcium transport due to lesions in the small intestinal mucosa; reduced absorption of fat-soluble vitamins, with subsequent vitamin D deficiency; chemical binding of intraluminal calcium and magnesium to non-absorbable fatty acids and thus the formation of insoluble soaps, which are again secreted into the stool. These factors explain that signs of vitamin D deficiency and hypocalcemia may be the only symptom of celiac disease.
The tetany seen in this case was caused by hypocalcemia and hypomagnesemia as a result of malabsorption from celiac disease. Tetany is a less common presenting feature of celiac disease, despite known reports of hypocalcemia.6,7 The presence of diarrhea and anemia was an essential clue to making the correct diagnosis.
Only a few series report cramps/ tetany as the presenting symptom in biopsy-proven adult-onset celiac disease. Corazza et al. (1991)8 reported that 20% of adult celiac patients had tetany as the presenting complaint whereas another series by Dawson and Kumar (1985)9 reported cramps in 4% of adult celiac patients as the first complaint.
The clinical response to a gluten-free diet is most often dramatic, as shown in this patient. As illustrated in this case, celiac disease should be considered in patients with tetany and diarrhea.
Conclusion
Oligosymptomatic celiac disease presentation is common among adults and presents a diagnostic challenge. The presence of malabsorption should be considered even in the presence of unclear momentary symptoms. Tetany may be seen as a presentation, caused by hypocalcemia and hypomagnesemia as a result of malabsorption from celiac disease.
References
- Trier JS. Celiac sprue. N Engl J Med. 1991 Dec 12;325(24):1709-19.
- Rampertab SD, Pooran N, Brar P, Singh P, Green PH. Trends in the presentation of celiac disease. Am J Med. 2006 Apr;119(4):355.e9-14.
- Tursi A, Giorgetti G, Brandimarte G, Rubino E, Lombardi D, Gasbarrini G. Prevalence and clinical presentation of subclinical/silent celiac disease in adults: an analysis on a 12-year observation. Hepatogastroenterology. 2001 Mar-Apr;48(38):462-4.
- Mc Nicholas BA and Bell M. Coeliac disease causing symptomatic hypocalcaemia, osteomalacia and coagulopathy. BMJ Case Rep. 2010; Available from: doi:10.1136/bcr.09.2009.2262.
- Makharia GK, Baba CS, Khadgawat R, Lal S, Tevatia MS, Madan K et al. Celiac disease: variations of presentations in adults. Indian J Gastroenterol. 2007 Jul-Aug;26(4):162-6.
- Cano Ruiz A, Barbado Hernandez FJ, Martin Scapa MA, ómez-Cerezo J, Vázquez Rodríguez JJ. Adult Celiac disease presenting as tetany. An Med Interna. 1996 Dec;13(12):592-4.
- Bottaro G, Cataldo F, Rotolo N, Spina M, CorazzaGR.The clinical pattern of subclinical/silent celiac disease: An analysis on 1026 consecutive cases. Am J Gastroenterol. 1999 Mar;94(3):691–6.
- Corazza GR, Frisoni M, Treggiari EA et al. Clinical features of adult coeliac disease in Italy; in Mearin ML & Mulder CJJ (eds): Coeliac Disease: 40 Years Gluten Free.Dordrecht: Kluwer Academic Publishers. 1991;p117-21.
- Dawson AM & Kumar PJ. Coeliac disease; in Booth CC & Neale G (eds): Disorders of the Small Intestine. Oxford: Blackwell. 1985;153-78.