Wolman Disease and Liver Transplantation: Case Report

Wolman disease (WD) is an autosomal recessive lysosomal storage disorder, caused by a deficiency of lysosomal acid lipase. Affected infants usually develop abdominal distension, hepatosplenomegaly, steatorrhea, severe malabsorption and malnutrition, and adrenal calcification. Despite treatment attempts, the clinical outcome is poor. We report a case of a 4-month-old girl with WD, presented with a rapidly progressive liver failure and a liver transplantation was performed. The graft was retrieved from her mother. The postoperative period was uneventful. The child was in a satisfactory condition about 8 weeks after surgery and the enzyme replacement therapy (ERT) was started. During the treatment weight loss and vomiting persisted and a diarrhea started. Patient died due to severe respiratory failure seven weeks after starting ERT

Results of enzyme replacement therapy in Bulgarian patients with a severe form of hunter syndrome: A 42-month follow-up

Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked disease caused by a deficiency of the enzyme iduronate-2-sulphatase (IDS), which results in the lysosomal accumulation of the undegraded glycosaminoglycans (GAGs) dermatan and heparan sulfate in various tissues and organs. Enzyme replacement therapy (ERT) with recombinant iduronate-2-sulphatase is the first disease-specific treatment for Hunter syndrome. Clinical trial data for the use of idursulfase to treat severe Hunter patients are limited and controversial. Our study analyzes therapeutic responses after ERT over 42 months of five Hunter patients and further expanding the knowledge of benefits and disadvantages of such therapy. Five boys with the severe form of MPS II (age range, 5−17 years) were treated with idursulfase for a minimum period of 8 months to a maximum period of 42 months. ERT with idursulfase in patients with the severe form of MPS II was associated with improvements in urinary GAG excretion and spleen size, stabilization of cardiac disease, and not effective on joint contractures, and on liver volume. MPS II is a progressive disease and response to ERT is influenced by the severity of the phenotype at treatment initiation

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation. Since the considerable number of MPS IVA patients in the region, particularly adults, the study mainly focused on MPS IVA management and treatment. ----- Results: 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. ----- Conclusions: The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions, regarding epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists