Atypical Presentations of Celiac Disease in Adult Women: A Practice-Based Reflection from Primary Care
Elena Codruta GHEORGHE and Daniel Robert STANESCU
Celiac disease (CD) is a frequent immune-mediated disorder, yet its diagnosis in adults remains challenging due to heterogeneous and often extra-intestinal presentations. In primary care, patients may present with non-specific symptoms, leading to diagnostic delay and prolonged morbidity.We report three adult female patients (aged 31, 27 and 38 years) presenting to primary care over a two-year period with atypical manifestations ultimately diagnosed as CD. The first patient presented with purpuric lesions of the lower limbs and intermittent polyarthralgia, without gastrointestinal symptoms. Laboratory evaluation revealed normocytic anemia and iron deficiency. Skin biopsy showed neutrophilic dermatosis. Positive celiac serology (anti-tTG IgA, anti-endomysial and anti-gliadin antibodies) led to upper endoscopy, which confirmed villous atrophy. The second patient complained of chronic asthenia and diffuse myalgia. Biological assessment identified persistent vitamin D deficiency despite prolonged supplementation, with otherwise normal findings. Anti-tTG IgA and anti-endomysial IgA antibodies were positive, and duodenal biopsy confirmed villous atrophy. The third patient presented with progressive fatigue, mucocutaneous pallor, headaches, bloating and occasional epigastric pain, significantly affecting daily functioning. Laboratory tests showed moderate hypochromic microcytic anemia with severe iron deficiency. Celiac serology was strongly positive for multiple antibodies, and histology confirmed villous atrophy. In all cases, diagnostic pathways were initiated in primary care and coordinated with gastroenterology. A limitation was the absence of standardized screening criteria for atypical presentations.These cases illustrate uncommon adult presentations of CD, including dermatological, rheumatological and isolated nutritional deficiency manifestations. While such presentations are individually reported, their identification in primary care highlights the need for increased diagnostic vigilance beyond classical gastrointestinal symptoms.CD should be considered in patients with unexplained anemia, persistent vitamin deficiencies or systemic symptoms. Lower thresholds for serological testing in primary care may reduce diagnostic delays.The variability of adult celiac disease challenges traditional symptom-based diagnostic approaches. Primary care plays a crucial role in early recognition, particularly when presentations are subtle or extra-intestinal.A high index of suspicion for celiac disease in primary care, even in the absence of gastrointestinal symptoms, can lead to timely diagnosis and improved patient outcomes. These cases support a more proactive diagnostic approach to atypical presentations.
