From the Guidelines
The most likely symptom present in both a 24-year-old female and her grandmother with celiac disease would be chronic diarrhea. This classic manifestation of celiac disease typically presents as persistent, loose, pale, and foul-smelling stools. However, it's essential to note that symptom presentation can vary significantly between different age groups. The younger woman might also experience fatigue, abdominal pain, bloating, and weight loss, while her grandmother might present with more subtle symptoms like anemia, osteoporosis, or neurological issues such as peripheral neuropathy. This difference occurs because celiac disease often manifests differently in older adults compared to younger individuals. The underlying mechanism for these symptoms is the immune-mediated damage to the small intestinal mucosa triggered by gluten ingestion, which leads to malabsorption of nutrients, as explained in the guidelines for best practices in monitoring established coeliac disease in adult patients 1. This autoimmune response occurs in genetically predisposed individuals, which explains the familial pattern seen in this case, with a prevalence of around 1% worldwide 1. The only effective treatment is a strict, lifelong gluten-free diet for both individuals, regardless of symptom severity or presentation, as supported by various guidelines, including those from the American College of Gastroenterology 1. It is crucial to diagnose celiac disease accurately, using a combination of serological tests and intestinal biopsy, to initiate timely treatment and prevent long-term complications, such as osteoporosis, infertility, and small bowel cancer, as highlighted in a systematic review with meta-analysis on the accuracy of serological tests for diagnosing coeliac disease 1. Additionally, guidelines from the British Society of Gastroenterology emphasize the importance of a gluten-free diet in managing celiac disease and discuss the need for robust diagnostic criteria and careful disease work-up 1. In summary, chronic diarrhea is the most likely symptom to be present in both the 24-year-old female and her grandmother with celiac disease, and a strict gluten-free diet is the only effective treatment for this condition. Key points to consider in the diagnosis and management of celiac disease include:
- The use of serological tests, such as IgA anti-tissue transglutaminase (TTG) antibody, for primary detection 1
- The importance of intestinal biopsy in confirming the diagnosis 1
- The need for a lifelong gluten-free diet to prevent long-term complications 1
- The variation in symptom presentation between different age groups, with older adults often presenting with more subtle symptoms 1
From the Research
Presentation of Celiac Disease
The presentation of celiac disease can vary widely among individuals, including a 24-year-old female and her grandmother. Considering the provided evidence, the following findings are likely to be present in both patients upon presentation:
- Diarrhea: This is a common intestinal manifestation of celiac disease, as stated in 2 and 3. Diarrhea is mentioned as a classic presentation of malabsorption in celiac disease.
- Extraintestinal manifestations: Both patients may also present with extraintestinal manifestations, such as iron deficiency anemia, decreased bone mineral density, or neuropathy, as mentioned in 2.
- Association with other autoimmune diseases: There is an increased risk of celiac disease in individuals with other autoimmune conditions, such as type 1 diabetes or autoimmune thyroid disease, as discussed in 4 and 5.
Likely Findings
Based on the provided evidence, the most likely finding to be present in both patients upon presentation with celiac disease is:
- Diarrhea: As it is a common presentation of celiac disease, especially in the classic form, as mentioned in 2, 3, and 6.
Other Considerations
Other options, such as bone disease, neuropathy, and thyroid disease, may also be associated with celiac disease, but they are not as directly related to the presentation of the disease as diarrhea. Bone disease and neuropathy are mentioned as extraintestinal manifestations in 2, while thyroid disease is discussed as an associated autoimmune condition in 4 and 5. However, diarrhea is a more direct and common presentation of celiac disease, making it the most likely finding in both patients.