Abstract
Objectives
EDS-4 comprises ∼4% of all EDS, involving mutations in type III procollagen rather than type V. It causes spontaneous vascular and visceral rupture but not large joint or skin hypermotility. Nutritional deficiencies and malabsorption have been described in classical EDS, but not in EDS-4.
Methods
A 30-year-old female with EDS-4, bowel obstruction, spontaneous colon rupture, spontaneous pneumothorax and cholecystitis had fatigue, diarrhea, abdominal pain, hair loss and dry skin. Stools were malodorous and floating; oily and often orange in color. There was no response to bile acid sequestration.
The patient weighed 40.4 KG (BMI = 16.9) with intact muscle mass and near total absence of subcutaneous adipose tissue. There were sparse hair follicles; hair was easily pluckable and lanugo-like. The skin was thin and translucent; dry with flaking and peeling both tibial regions.
Vitamin levels (A, D, E, K1, C, B1, B6, B9, B12) were normal as were zinc, iron, copper and carnitine. Levels of palmitoleic (C16:1w7), hexadecenoic (C16:1w9), linoleic (C18:2w6), alpha linolenic (C18:3w3), gamma linolenic (C18:3w6), vaccenic (C18:3w7), arachidic (C20:0), arachidonic (C20:4w6), docosenoic (C22:1) and nervoic (C24:1w9) acids were deficient. The triene-tetraene ratio was 0.028 (range = 0.01–0.038).
Results
We diagnosed fat malabsorption (FM) with EFAD and began pancreatic enzyme replacement with a blend of vegetable oils (coconut, corn, soy, safflower, olive and avocado). After 6 months, there was reversal of all deficiencies. GI symptoms, general strength and vitality improved. Her scalp hair increased. The hair shafts were less fragile and normal in color. The skin dryness, flaking and peeling had resolved.
Conclusions
EDS-4 patients may present with FM and develop EFAD. The pathogenensis of FM in EDS-4 may involve disordered collagen type III within the bowel wall, pancreatic matrix or ductal system. Dysbiosis and dysautonomia may also play a role. The combination of pancreatic enzyme replacement and fatty acid supplementation was beneficial in this case and may be appropriate for other patients with EDS-4 and FM.
Funding Sources
none.