Case Report
Ileocecal Appendix Involvement in Fabry Disease Mimicking an Acute Abdomen
Cristi E1*, Massari A1, Ranalli TV1, Gomes VV2, Giannakakis K2 and Feriozzi S3
1Department of Pathology, Belcolle Hospital, Viterbo, Italy
2Department of Radiology, Oncology and Pathology "Sapienza" University of Rome, Italy
3Department of Nephrology and Dialysis, Belcolle Hospital, Viterbo, Italy
- *Corresponding Author:
- Emanuela Cristi
Belcolle Hospital, sammartinese street
snc 01100 Viterbo, Italy
Tel: +39 3388447201
Fax: +39 339318
E-mail: emanuela.cristi@gmail.com
Received date: September 08, 2014; Accepted date: November 17, 2014; Published date: November 24, 2014
Citation: Cristi E, Massari A, Ranalli TV, Gomes VV, Giannakakis K, et al. (2014) Ileocecal Appendix Involvement in Fabry Disease Mimicking an Acute Abdomen. J Gastrointest Dig Syst 4:239. doi:10.4172/2161-069X.1000239
Copyright: © 2014 Cristi E, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body. The clinical picture is highly variable and depends on cellular storage deposition ranging from neurological, cutaneous and renal symptoms to cardiac and gastrointestinal ones. We are reporting about the case of a young female carrier of alpha-galactosidase A (agalA) gene mutation who was treated at our out-clinic practice for minimal neurological involvement (achroparaestesia). She was subsequently admitted in order to undergo appendectomy because of an acute severe abdominal pain. The histological examination of her appendix revealed only a deposition of globotriaosylceramide (Gb3) without any sign of acute inflammation. This case confirms the extreme clinical variability of Fabry disease and how the gastrointestinal involvement diagnosis can be missed
