Demographic Profile and Clinical Presentation of Celiac Disease in the Pakistani Population: A Systematic Review and...

Celiac disease (CD) is an increasingly recognized autoimmune enteropathy triggered by gluten ingestion. While its global prevalence is well-documented, data from South Asia, particularly Pakistan, remain fragmented. This systematic review and meta-analysis aimed to consolidate available evidence on the demographic characteristics and clinical presentations of CD in the Pakistani population.

A comprehensive literature search of PubMed, Google Scholar, and Cochrane databases was conducted in accordance with PRISMA guidelines. Studies were selected based on predefined PICOS criteria, including biopsy and serology-confirmed CD cases from Pakistan. Data extraction focused on demographics, symptoms, histology, laboratory parameters, and autoimmune associations. Statistical analysis was performed using a random-effects model.

Fourteen studies encompassing 1,578 patients were included. The pooled female prevalence was 51.5%, with mean ages of 7.6 years in pediatric and 35.5 years in adult patients. Iron deficiency anemia (65.9%) and diarrhea (64.6%) were the most common clinical presentations. Atypical presentations like bloating, oral ulcers, and psychiatric symptoms were also reported. Histologically, villous atrophy (96.9%) and intraepithelial lymphocytosis (84.5%) were predominant. Celiac disease was associated with autoimmune diseases, notably psoriasis (25%), hypothyroidism (12.6%), and autoimmune hepatitis (12.5%). Family history was reported in 10.6% of cases. Laboratory findings revealed low mean hemoglobin (9.57 gm/dL) and albumin (2.88 gm/dL), indicating nutritional compromise.

Celiac disease in Pakistan presents with a diverse clinical spectrum and frequent extraintestinal manifestations. Delayed diagnosis, nutritional deficiencies, and autoimmune overlap are common. Enhanced awareness and diagnostic accessibility are urgently needed to improve early recognition and management.