Essential Fatty Acid Deficiency in a Patient with Vascular Ehlers-Danlos Syndrome

A 30-year-old female with Ehlers-Danlos Syndrome type IV (EDS-4) presented with symptoms including fatigue, diarrhea, abdominal pain, hair loss, and dry skin, along with malodorous, floating, and often orange-colored stools, indicating malabsorption. Despite normal vitamin and mineral levels, she was found to have deficiencies in multiple essential fatty acids. The patient, who had a BMI of 16.9 and lacked subcutaneous adipose tissue, showed no response to bile acid sequestration. After being diagnosed with fat malabsorption and essential fatty acid deficiency (EFAD), she was treated with pancreatic enzyme replacement and a blend of vegetable oils. After six months, her deficiencies were reversed, gastrointestinal symptoms and general strength improved, hair health was restored, and skin dryness resolved. The study suggests that EDS-4 patients may experience fat malabsorption leading to EFAD, potentially due to disordered collagen type III affecting the bowel, pancreatic matrix, or ductal system. Pancreatic enzyme replacement and fatty acid supplementation were effective in this case and may benefit other EDS-4 patients with similar issues.