Dersleri yüzünden oldukça stresli bir ruh haline sikiş hikayeleri bürünüp özel matematik dersinden önce rahatlayabilmek için amatör pornolar kendisini yatak odasına kapatan genç adam telefonundan porno resimleri açtığı porno filmini keyifle seyir ederek yatağını mobil porno okşar ruh dinlendirici olduğunu iddia ettikleri özel sex resim bir masaj salonunda çalışan genç masör hem sağlık hem de huzur sikiş için gelip masaj yaptıracak olan kadını gördüğünde porn nutku tutulur tüm gün boyu seksi lezbiyenleri sikiş dikizleyerek onları en savunmasız anlarında fotoğraflayan azılı erkek lavaboya geçerek fotoğraflara bakıp koca yarağını keyifle okşamaya başlar


Ileocecal Appendix Involvement in Fabry Disease Mimicking an Acute Abdomen | OMICS International
ISSN: 2161-069X
Journal of Gastrointestinal & Digestive System

Like us on:

Make the best use of Scientific Research and information from our 700+ peer reviewed, Open Access Journals that operates with the help of 50,000+ Editorial Board Members and esteemed reviewers and 1000+ Scientific associations in Medical, Clinical, Pharmaceutical, Engineering, Technology and Management Fields.
Meet Inspiring Speakers and Experts at our 3000+ Global Conferenceseries Events with over 600+ Conferences, 1200+ Symposiums and 1200+ Workshops on Medical, Pharma, Engineering, Science, Technology and Business

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

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.

Visit for more related articles at Journal of Gastrointestinal & Digestive System


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


Anderson-Fabry disease; Gastrointestinal involvement; Ileocecal appendix involvement; Alpha-galactosidase A


The Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alpha-galactosidase A. This causes a derangement of the degradation of many glycosphingolipids with the intra-lysosomal accumulation, mainly globotriaosylceramide (Gb3) [1].

The disease usually occurs in childhood; males and females can be affected although the disease is usually milder in females and has a later onset [2]. Affected hemizygous males, with no residual α- galactosidase A activity, may display all the characteristics of the clinical picture while heterozygous females can have symptoms which range from very mild to severe [1,3].

The clinical symptoms are proteiform depending on many factors such as the amount of cellular storage deposition, organ involvement, genetics and others [4].

Characteristic symptoms are neurological (pain in the extremities, or acroparaesthesia), cutaneous (angiokeratoma), renal (proteinuria, renal failure), cardiovascular (cardiomyopathy, arrhythmia), cochleavestibular and cerebrovascular (transient ischemic attacks, strokes), and gastrointestinal (pain, diarrhoea, constipation) [5]. Gastrointestinal symptoms are due to the accumulation of Gb3 within enlarged ganglion cells of the myenteric plexus. However, all the cells and systems that contribute to intestinal structure and function may be affected: epithelial cells, smooth muscle, myofibroblasts, vascular endothelial cells and immune cells [6].

We are describing a case of a young female with acroparaesthesia who underwent a surgical procedure due to clinical suspicion of acute appendicitis.

Case Report

The case of a 24 year old young female carrier of a mutation of the α-galactosidase A (GLA) gene (IVS6 1G>A) with normal enzymatic activity in leucocytes 370.42 ± 58.20 nm/mg/h (normal value 2589.43 ± 3360.63 nm/mg/h) is reported. Her father died five years ago and had been affected by a severe Fabry cardiac and renal involvement.

She was following clinical and laboratory follow-ups every six months at our outpatient practice. The only AFD symptom present was the acroparaesthesia of the upper fingers when she played volleyball. All other investigations included in the Fabry observational studies for the heart, kidney and central nervous system were negative.

In October 2013, the patient suffered acute abdominal pain and was referred to the hospital emergency department. A physical examination and all laboratory tests were negative. An ultrasound investigation of abdominal organs did not display any alteration. However, due to the persistent, intense abdominal pain, acute appendicitis was suspected and an appendectomy was carried out on the patient. After the procedure, the pain disappeared and the patient was fine and consequently she was discharged from the hospital a few days after the operation.

The pathology report describe an ileocecal appendix of 7 cm in length, 0,7 cm in width, formalin fixed.

Paraffin embedded sections of 2-3 μm were set up and stained with hematoxylin and eosin (EE).

A microscopic examination showed only follicular hyperplasia (Figure 1) without any evidence of acute inflammation. The pathological diagnosis was an appendix with follicular lymphoid hyperplasia. Nothing was reported about an AFD involvement.

A few days after the histological diagnosis, the nephrologist referred her clinical history to the pathologist and a review of the specimen was immediately carried out. PAS-diastase (PAS-D) staining (Carlo Erba Periodic Acid-Schiff reactive) was carried out in order to highlight the possible accumulation of glycolipids.

An accumulation of glycolipids in enlarged ganglion cells of the myenteric plexus and in endothelial cells was demonstrated (Figure 2 and 3).


AFD is a rare, progressive, X-linked inherited disorder of the glycosphingolipid metabolism due to a deficiency or absence of the α- galactosidase A enzyme. AFD is pan-ethnic, and the reported annual incidence is variable from 1:17,000 to 1:117,000 and its true prevalence may be underestimated [1,7].

Classically affected hemizygous males with no residual α- galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, reduction of the glomerular filtration rate), cardiovascular (cardiomyopathy, arrhythmia), cochlea-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease. The heterozygous females have a clinical picture with a wide range, from very mild to severe symptoms, which has a later onset and slower progression [2,8]. In this report, the only AFD sign was the acroparaesthesia of the upper fingers while playing volleyball.

Gastrointestinal involvement is frequent in Fabry patients and the incidence is higher in females than in males [4]. Hoffmann [9] described gastrointestinal symptoms in 342 patients with AFD and demonstrated that the overall prevalence of gastrointestinal complaints was 52.0%. Interestingly, female patients reported gastrointestinal symptoms more often than male patients (54.2% vs. 48.9%).

The most prevalent gastrointestinal symptom was a cramping abdominal pain which was present in 32.5% of the patients tested. It is remarkable that no difference was in the prevalence between male and female patients and the median age at onset of abdominal pain was 14.0 years.

The most frequently observed combination of gastrointestinal symptoms in patients with Fabry disease was abdominal pain and diarrhoea (14.3%), followed by abdominal pain and nausea (9.4%), and abdominal pain and constipation (7.3%). Episodes of abdominal pain resembling acute abdomen are reported in the literature [1,5,10]. In our patient pain disappeared after the surgical procedure and that is likely due to a spontaneous remission or it might as well be associated with medications (analgesics and anaesthetics) employed during the surgical procedure.

The abdominal pain associated with AFD is most likely due to Gb 3 deposition in the neuronal and vascular tissue of the bowel submucosa [5,11]. In addition, it is possible that some aspects of gastrointestinal symptomatology in Fabry disease may relate to as yet unidentified and subtle immunological alterations relating to lymphocytes and Gramnegative bacteria [12-14].

From this clinical and histological evidence we can reasonably affirm that the abdominal pain in our patient was a sign of AFD rather than acute appendicitis. As a matter of fact, while the accumulation of glycolipid within enlarged ganglion cells of the myenteric plexus and endothelial cells was proven, there were no signs of the appendix being inflamed. Moreover, this report demonstrates how a diagnosis of AFD can be easily missed, not only in everyday clinical practice, but even in histological specimens without a clinical suspicion. On the other hand, this case confirms the ubiquity presence of foamy cell deposits in the gastrointestinal tract and the importance of data collection in understanding this important aspect of AFD.

Last but not least, the issue arising in this case is the patient’s treatment with enzyme replacement therapy (ERT). The timing in starting ERT in Fabry females is an unresolved question [8] and is not dealt with in this report. At present, the patient in question is undergoing a complete re-evaluation of her disease. We are consulting with neurologists on the central nervous system: the presence of even a minimal lesion [15] could be a signal to start ERT.



Post your comment

Share This Article

Article Usage

  • Total views: 13455
  • [From(publication date):
    November-2014 - Nov 30, 2023]
  • Breakdown by view type
  • HTML page views : 9127
  • PDF downloads : 4328