Celiac disease

 

Celiac Disease (CD) is an immune-mediated, multisystem disorder that affects genetically susceptible individuals upon exposure to gluten-containing grains such as wheat, barley, and rye. Also known as gluten-sensitive enteropathy, CD is characterized by an inappropriate immune response to gluten, leading to inflammation and damage of the small intestinal mucosa.

CD is associated with various autoimmune and idiopathic conditions, including:

• Type 1 diabetes mellitus

• Hashimoto’s thyroiditis

• Selective IgA deficiency

• Alopecia areata

• Addison’s disease

• Connective tissue diseases (primarily Sjögren’s syndrome)

• Chromosomal disorders (e.g., Down syndrome, Turner syndrome, and Williams syndrome)

• Neurological disorders (e.g., cerebellar ataxia, peripheral neuropathy, epilepsy with or without occipital calcifications)

• Hepatic autoimmune diseases (e.g., primary biliary cholangitis, autoimmune hepatitis, and primary sclerosing cholangitis)

• Idiopathic dilated cardiomyopathy

Extraintestinal manifestations are common and may include:

• Anemia due to impaired absorption of vitamin B12, folate, or iron

• Coagulopathy due to vitamin K deficiency

• Osteoporosis

• Neurological symptoms such as muscle weakness, paresthesias, seizures, and ataxia

Dermatitis herpetiformis is a pathognomonic extraintestinal manifestation of CD. This papulovesicular, extremely pruritic rash appears on extensor surfaces including the elbows, knees, buttocks, and scalp. It represents an immunologic skin response to gluten and is often referred to as celiac disease of the skin.

Diagnosis involves serologic testing and histologic confirmation:

• Serologic tests include anti–tissue transglutaminase (tTG) antibodies (measured quantitatively by enzyme-linked immunosorbent assay, ELISA) and anti-endomysial antibodies.

• Esophagogastroduodenoscopy (EGD) with small bowel biopsy remains the gold standard for diagnosis, particularly in patients with negative serology but strong clinical suspicion.

• Genetic testing for HLA-DQ2 or HLA-DQ8 alleles may be considered in selected cases, especially when the diagnosis remains uncertain.

Management consists of strict lifelong adherence to a gluten-free diet, which is the cornerstone of treatment and typically results in clinical and histological improvement.