Ehlers-Danlos Syndrome And CD5 Deficiency In A 22 Year-old Male

Abstract

HISTORY: A previously-active male presented with joint pain at age 15. He is positive for joint hypermobility and dislocation/subluxation, joint pain, food allergies, gastritis, gastroesophageal reflux, and CD5 immune deficiency (diagnosed at age 5, one of eight in the world at the time). He has a family history of aortic aneurysm. PHYSICAL EXAMINATION: The patient exhibited joint paing and extreme hypermobility on examination. Genetic tests were performed on the patient, his mother, and his sister. DIFFERENTIAL DIAGNOSIS: While there exists a family history of hypermobility, along with orthostatic hypotension in this patient (consistent with Ehlers-Danlos Syndrome, or EDS) the patient also exhibits CD5 immune deficiency, psychogenic seizures, a likely pathogenic variant in the AK2 gene (c.656deIT), associated with reticular dysgenesis. His sister also carries this variant. He also carries the variant associated with cystic fibrosis, the congenital bilateral absence of the vas deferens, and chronic pancreatitis. TEST AND RESULTS: We are presently working with this patient to determine if a moderate-intensity exercise program yields a decrease in joint pain, hypermobility, and downregulation of gene expression. FINAL WORKING DIAGNOSIS: This is a work-in-progress of a patient with two rare diseases and a variety of genetic issues., which to our knowledge have never been exhibited in a single patient. TREATMENT AND OUTCOMES: We will present working data and determine if an exercise intervention has a positive impact in this patient.