[P1-170] High risk Screening for Gaucher disease with enzyme assay among epilepsy patients.
Gaucher disease is a lysosome disorder, characterized by accumulation of the substrate glucocerebroside in reticuloendothelial cells due to reduced enzyme activity of glucocerebrosidase. Gaucher disease is classified into 3 types: type 1 with a chief complaint of hepatosplenomegaly, anemia, and bone symptoms; type 2 with rapidly progressing neurological symptoms; and type 3 with slowly progressing myoclonus, abnormal eye movement and other symptoms. Recently, enzyme replacement therapy has become available, prompting establishment of early treatment of Gaucher disease. This has increased the importance of early diagnosis using clinical symptoms as clue. The objective of this study is to develop effective screening method and verify the system in order to establish screening for Gaucher disease with enzyme assay among epilepsy patients with unknown cause.
After obtaining informed consent from subjects, screening test for Gaucher disease was conducted at medical institutions. The study population consisted of epilepsy patients. Blood will be sampled on filter paper and sent to the Department of Pediatrics, Kumamoto University Hospital to measure glucocerebrosidase activity. If measurement detects abnormally low enzyme activity, suggestive of Gaucher disease, in a patient, the patient was examined for hepatosplenomegaly, neurological symptoms, or bone symptoms and undergo bone marrow test as well as blood acid phosphatase (ACP) and angiotensin-converting enzyme (ACE) measurement at the medical institution. Glucocerebrosidase genetic analysis was also be performed with separate consent from the patient. Based on our study, we found one neurological type Gaucher patient with seizure, collodion skin and hepatosplenomegaly. An efficient diagnostic system for high-risk patients could be established to develop an algorithm for early diagnosis and treatment of Gaucher disease.
After obtaining informed consent from subjects, screening test for Gaucher disease was conducted at medical institutions. The study population consisted of epilepsy patients. Blood will be sampled on filter paper and sent to the Department of Pediatrics, Kumamoto University Hospital to measure glucocerebrosidase activity. If measurement detects abnormally low enzyme activity, suggestive of Gaucher disease, in a patient, the patient was examined for hepatosplenomegaly, neurological symptoms, or bone symptoms and undergo bone marrow test as well as blood acid phosphatase (ACP) and angiotensin-converting enzyme (ACE) measurement at the medical institution. Glucocerebrosidase genetic analysis was also be performed with separate consent from the patient. Based on our study, we found one neurological type Gaucher patient with seizure, collodion skin and hepatosplenomegaly. An efficient diagnostic system for high-risk patients could be established to develop an algorithm for early diagnosis and treatment of Gaucher disease.