Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease.
Gaucher's disease (GD) may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy with imiglucerase. GD is associated with cytopenia, bone complications, hepatosplenomegaly, hypermetabolism, and hyperactivity of the immune system manifested by polyclonal hyper gamma-globulinemia and an increased incidence of monoclonal gammopathies. High ferritin and presence of autoimmune antibodies may present and because of these abnormalities, clinical similarities with primary liver diseases may occur. We report on two patients who suffered diagnostic delay that could potentially lead to life-threatening manifestations of GD. Potential complications include: avascular necrosis, severe bleeding, chronic bone pain, life-threatening sepsis, pathologic fractures, growth failure, and liver pathology. Physician awareness will increase the likelihood of prompt detection of GD and improve its management.
Saadi
Tarek
T
Liver Unit, Technion-Israel Institute of Technology, Haifa, Israel.
Rosenbaum
Hana
H
Veitsman
Ella
E
Baruch
Yaacov
Y
D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D001323:Autoantibodies / Q000097:blood; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005293:Ferritins / Q000097:blood; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology / Q000628:therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D013163:Splenomegaly / Q000628:therapy
D001323:Autoantibodies; D005293:Ferritins; D000410:Alanine Transaminase; D005962:Glucosylceramidase; C090568:imiglucerase