title: Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease.
abstract: A 39-year-old male with classical Anderson-Fabry disease (AFD) and long-standing idiopathic splenomegaly, who had been on haemodialysis since the age of 24, was splenectomised for symptomatic pancytopaenia. Spleen enlargement was first noted at clinical presentation, at age 16, but despite thorough investigation its cause remained unclear. Anaemia, leukopaenia and thrombocytopaenia were first observed a few years thereafter, but well before the start of dialytic treatment. On gross pathological examination the spleen weighed 700 g and had a fibrocongestive appearance. Histologically, it showed expansion of the red pulp and decreased white pulp. Some histiocytes and many of the endothelial cells lining the sinusoids had vacuolated cytoplasm with argyrophilic material within, suggesting their involvement in the storage pathology of AFD. In a retrospective review of our cohort of patients with classical AFD (n = 10), complete blood counts showing anaemia, leukopaenia or thrombocytopaenia were found in five, two and four patients, respectively, including a 6-year-old boy, whose spleen was also enlarged. Data from AFD international registries show that peripheral blood cytopaenias, particularly anaemia, are prevalent among these patients. Sinusoidal endothelial involvement resulting in compromise of splenic blood flow may be the cause of congestive splenomegaly and hypersplenism in classical AFD.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Porto, Portugal. jpo@med.up.pt
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
authors.forename: Carmen
authors.initials: C
authors.lastname: Valbuena
authors.forename: António
authors.initials: A
authors.lastname: Baldaia Moreira
authors.forename: Elsa
authors.initials: E
authors.lastname: Fonseca
authors.forename: Carlos
authors.initials: C
authors.lastname: Soares
authors.forename: Elisa
authors.initials: E
authors.lastname: Leão Teles
authors.forename: Stephen
authors.initials: S
authors.lastname: Waldek