A multidisciplinary approach to management of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).
We present a case of an 18-year-old Caucasian man with a rare autosomal recessive disorder called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). This patient had manifestations of all clinical components of this multisystemic disease which included intestinal failure secondary to autoimmune enteropathy. We present a unique multidisciplinary management for this genetic condition. Although patients with APECED do not always have all the disease components (a total of eight exist), the majority have at least 3-5 components. This excludes the psychosexual implications which are often ignored. This case highlights the importance of (1) management of APECED in a multidisciplinary nature that includes a gastroenterologist, immunologist, endocrinologist, dietitians, etc and the (2) management of intestinal failure component of APECED is best suited in a specialist intestinal failure unit where expertise is available for complex malabsorption disorders.
Department of Colorectal Surgery, St. James's University Hospital, Leeds, UK. mg_ramzy@yahoo.com
Mohammed Ramzy
MR
Gouda
Azzam
A
Al-Amin
Heike
H
Grabsch
Clare
C
Donnellan
D000293:Adolescent; D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use; D002178:Candidiasis, Chronic Mucocutaneous / Q000209:etiology; D002180:Candidiasis, Oral / Q000209:etiology; D003113:Colonoscopy; D004378:Duodenal Diseases / Q000209:etiology / Q000473:pathology; D004386:Duodenum / Q000473:pathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D044342:Malnutrition / Q000209:etiology; D044623:Nutrition Therapy; D010348:Patient Care Team; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D000069283:Rituximab
D058846:Antibodies, Monoclonal, Murine-Derived; D007166:Immunosuppressive Agents; D000069283:Rituximab