Jejunal Diverticulosis With Perforation as a Complication of Fabry's Disease

Kirkham, Sara; Thistlethwaite, J. Richard; Platika, Doros; Kolodny, Edwin H.; Schuffler, Michael D.

doi:10.1016/s0016-5085(84)80028-1

Cited by 43 publications

(23 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Histopathological descriptions show vacuolization of ganglion cells and surrounding axons, with intracellular glycosphingolipid deposits typical of Fabry disease (Fig. 3) (20)(21)(22)(23)(24)(25)(26). An increase in size of the ganglion cells higher than twice their normal size has also been reported (22).…”

Section: Discussionmentioning

confidence: 89%

See 1 more Smart Citation

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Politei

Thurberg²,

Wallace

et al. 2015

Clinical Genetics

View full text Add to dashboard Cite

Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (FD), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (FD) who manifested early gastrointestinal involvement.

show abstract

Section: Discussionmentioning

confidence: 89%

“…3). (21)(22)(23)(24)29). Jardine et al, describe a 50-year-old male patient with intestinal necrosis secondary to superior mesenteric artery infarction (20).…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Politei

Thurberg²,

Wallace

et al. 2015

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…Jejunal diverticulosis with perforation and abscess formation as a complication of AFD has been reported (31). Light microscopy studies disclosed glycolipid deposition in the neurons and nerve fibers of the intestinal nerve plexuses and smooth muscle.…”

Section: Autonomic Dysfunctionmentioning

confidence: 98%

Anderson-Fabry Disease

Kolodny¹,

Pastores²

2002

Journal of the American Society of Nephrology

Self Cite

View full text Add to dashboard Cite

“…The available reports state that gastrointestinal symptoms occur in approximately 60% of hemizygous males (Gold et al 20002;MacDermot et al 2001b;Miners et al 2002;Sheth et al 1981) and between about 30% and 60% of heterozygous females (MacDermot et al 2001a;Sheth et al 1981). Of note is the fact that gastrointestinal symptoms are the major or sole clinical manifestation of Fabry disease in some patients (Friedman et al 1984;Rowe et al 1974). Among these, abdominal pain and diarrhoea are prominent.…”

mentioning

confidence: 99%

Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease

Dehout¹,

Roland

Granseigne³

et al. 2004

J of Inher Metab Disea

View full text Add to dashboard Cite

Gastrointestinal symptoms, including diarrhoea and abdominal pain, are one of the earliest and most frequently reported signs of Fabry disease, a rare X-linked lipid storage disorder. As the disease progresses, renal, cardiac and cerebrovascular complications develop, resulting in more serious symptoms and early mortality. The present study evaluated the effects of enzyme replacement therapy (ERT) with agalsidase alfa on the gastrointestinal symptoms of Fabry disease. Following 6 months of treatment, both the severity ( p < 0.02) and frequency ( p < 0.02) of abdominal pain decreased. For those patients who had received agalsidase alfa for more than 6 months, the observed improvement was generally maintained. This is the first study indicating a significant beneficial effect of ERT on gastrointestinal symptoms in a group of patients treated for Fabry disease.

show abstract

Jejunal Diverticulosis With Perforation as a Complication of Fabry's Disease

Cited by 43 publications

References 21 publications

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Anderson-Fabry Disease

Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease

Contact Info

Product

Resources

About