DECREASED ACTIVITY OF ACID ALPHA-GLUCOSIDASE IN A PATIENT WITH PERSISTENT PERIOCULAR SWELLING AFTER INFUSIONS OF HYDROXYETHYL STARCH

After infusion therapy with hydroxyethyl starch (HES) on account of su dden hearing loss, a 68-year-old woman developed a marked and persiste nt periocular swelling. This extraordinary adverse effect caused us to search for an explanation by means of histopathology, immunohistochem istry, immunoelectron microscopy and biochemistry In lesional periocul ar skin and in normal-appearing skin, lysosomal storage of HES could b e detected with a specific HES antibody in histiocytes, endothelial ce lls, basal keratinocytes and small nerves. In the periocular skin, a s tronger deposition of HES was found in addition to distinct xanthomato us changes as well as features of lymphoedema. In view of lysosomal HE S storage we measured the pH-dependent activity of the lysosomal alpha -glucosidase (GAA) in cultured fibroblasts. We found a 50% decreased a ctivity of the acid GAA, which is consistent with a heterozygous state of glycogenosis type II (Pompe's disease) and potentially of pathogen etic relevance for the intralysosomal accumulation of HES, Xanthomatou s changes and lymphoedema are likely to be secondary effects, but cont ribute considerably to the clinical manifestation of persistent visibl e swelling. This observation could point to a role for GAA in the elim ination of tissue-stored HES. Patients with decreased activities of GA A may be at risk of unusual adverse effects following extraordinary an d prolonged tissue storage of HES, especially if it is infused in larg e quantities.