Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal)  in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...

A number of investigators have attempted to treat Gaucher disease with exogenous glucocerebrosidase. Although at times encouraging biochemical changes and suggestive alterations in organomegaly have been reported, overall, the results of enzyme replacement therapy must be judged to be a failure. In order to understand this lack of success with a promising treatment modality, four aspects of enz...

GOALS To evaluate the quality of life (QoL) of patients with chronic pancreatitis before and after pancreatic enzyme replacement therapy in a prospective, multicentre, follow-up study. STUDY Two groups of patients were evaluated. Group 1 consisted of 31 patients with newly diagnosed chronic pancreatitis who had never been treated with pancreatic enzyme preparations. Group 2 consisted of 39 pa...

Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) with only 26 cases reported worldwide and its outcome remains largely unknown. In this manuscript, we described a 17-year-old girl with GD who has been treated with standard enzyme replacement therapy (ERT) for 16 years. The follow-up of her mesenteric lymphadenopathy began 13 years ago, which is one of the longest follo...

We report on the case of a girl with type 1 Gaucher’s disease, treated from age 9 to 15 with highdose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher’s disease, alternative strategies such as fractionated or further increased ERT, gene th...

We report on the successful desensitization of an adult female with Pompe disease who had previously experienced anaphylaxis to intravenous alglucosidase alfa therapy. The starting alglucosidase alfa dose for desensitization was 10mg/kg with gradual dose escalation and desensitization via serial dilution was completed over five infusions. This methodology serves as a means to desensitize patien...

Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women. The manifestations of this heterogeneous disease are multisystemic and progressive. Prior to the development of enzyme replacement therapy, the management and treatment for Fabry disease was largely nonspecific and supportive. Because enzyme replacement therapy became commercially available in 2001, a ...

The paper by De Fost et al. in the current issue of Blood contains important data with regard to dose-sensitivity in the treatment of Gaucher disease, but the title is misleading. It implies that high-dose enzyme replacement therapy may be superior to low-dose enzyme replacement therapy. However, it is apparent that “superiority” in response is limited to two surrogate markers, serum chitotrios...

We aimed to evaluate the outcome of enzyme replacement therapy (ERT) in Turkish Gaucher patients since it first became available in our country. Eleven patients with type I and one patient with type III Gaucher disease (GD) received therapy as 30-60 U/kg and 120 U/kg every two weeks, respectively, for at least six months, starting a mean period of 4.2 years after the diagnosis. Assessment of re...

This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and m...