[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease].

Abstract

Fabry disease is a rare X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase, which leads to accumulation of globotriasylceramides (GL-3) in visceral tissues and vascular endothelium, causing multi-organ failure. We presenta case of Fabry disease in a 17-year-old patient with mainly gastrointestinal manifestations, diagnosed 10 years after the manifestation of first symptoms. Significant and progressive weight loss with abdominal pain and vomiting, leading to cachexia, were observed in early childhood. The patient was investigated for non-inflammatory bowel diseases, Raynaud syndrome, polimyositis, mitochondrial cytopathies, intestinal lypodystrophies and others. The symptoms of intenstinal pseudo-obstruction syndrome were observed and surgical treatment was instituted because of necrosis of the colon. There was progressive cachexia and parenteral nutrition had to be instituted. Finally, plasma alpha-galactosidase was measured, and its deficit confirmed Fabry disease. In conclusion gastrointestinal symptoms in the course of Fabry disease can obscure other characteristic symptoms, may be prodromal and leading. Heart and renal failure may not occur in children. Unexplained abdominal pain and malnutrition may be gastrointestinal manifestations of metabolic disorders.

• Authors: Piotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, Anna Smorczewska-Kiljan, Piotr Gietka, Barbara Czartoryska, Anna Tylki-Szymańska
• Journal: Medycyna wieku rozwojowego (Med Wieku Rozwoj) 2011 Jan-Mar Vol. 15 Issue 1 Pg. 69-72 Poland
• Vernacular Title: Rzadka postać choroby Fabry'ego z ciezkimi objawami ze strony przewodu pokarmowego - trudności diagnostyczne.
• PMID: 21786514 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• alpha-Galactosidase

Topics

• Adolescent
• Diagnosis, Differential
• Disease Progression
• Fabry Disease (blood, diagnosis)
• Gastrointestinal Diseases (diagnosis, etiology)
• Humans
• Male
• alpha-Galactosidase (blood)