title: Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates.
abstract: Gaucher disease (GD) is a lysosomal storage disorder characterized by accumulation of glucosylceramide in macrophages, so-called Gaucher cells, as a result of a deficiency of the lysosomal enzyme glucocerebrosidase. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. Bone manifestations among GD patients demonstrate a large variation including increased osteoclastic bone resorption, low bone formation and osteonecrosis. The purpose of the current case series is to describe the histological features observed in undecalcified bone samples, obtained from three GD patients, and evaluate the relationship with clinical features in these patients. Bone fragments were obtained from three adult type 1 GD patients with variable degrees of bone disease during orthopedic surgery. Specimens were embedded without prior decalcification in methylmethacrylate and prepared for histology according to standardized laboratory procedures. Histology revealed a heterogeneous pattern of bone involvement. High cellularity of bone marrow, abundant presence of Gaucher cells (GCs) and high turnover were observed in a patient with a history of multiple bone complications, while minimal bone turnover and few GCs were detected in the mildest affected patient in this series. An intermediate picture with relatively low bone turnover and a substantial amount of Gaucher cells was demonstrated in the third, moderately affected patient. No gross abnormalities in three biochemical markers of bone turnover (osteocalcin, N-terminal propeptide of type 1 procollagen and type 1 collagen C-terminal telopeptide) were noted. Plastic embedding and subsequent Goldner and TRAP staining offered a unique possibility to study bone histological findings in GD. Our data show that bone manifestations in GD may vary both clinically as well as histologically and bone disease in GD will likely require a personalized approach.
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: l.vandussen@amc.uva.nl.
authors.forename: L
authors.initials: L
authors.lastname: van Dussen
authors.affiliation: Endocrine Section, Department of Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Lips
authors.affiliation: Endocrine Section, Department of Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: H W
authors.initials: HW
authors.lastname: van Essen
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: C E M
authors.initials: CE
authors.lastname: Hollak
authors.affiliation: Endocrine Section, Department of Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: Bravenboer
mesh_terms: D000135:Acid Phosphatase / Q000378:metabolism; D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D015214:Antigens, Differentiation, Myelomonocytic / Q000378:metabolism; D001847:Bone Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000378:metabolism / Q000601:surgery; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D015675:Osteocalcin / Q000097:blood / Q000378:metabolism; D010446:Peptide Fragments / Q000378:metabolism; D011347:Procollagen / Q000378:metabolism; D000071681:Tartrate-Resistant Acid Phosphatase; D000097382:CD68 Molecule
chemical_list: D000135:Acid Phosphatase; D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D007527:Isoenzymes; D015675:Osteocalcin; D010446:Peptide Fragments; D011347:Procollagen; D000071681:Tartrate-Resistant Acid Phosphatase; C067980:CD68 antigen, human; D000097382:CD68 Molecule; C047202:procollagen Type I N-terminal peptide
keywords: Bone; Gaucher disease; Histology