Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma
| Autor: | M. Judith Peterschmitt, Uma Ramaswami, Moeenaldeen Al-Sayed, Aimee Donald, Alex Broomfield, Magy Abdelwahab, Han-Wook Yoo, Wuh-Liang Hwu, Hadeel M. Seif El Dein, Abdelkrim Berrah, Selena Freisens, Eugen Mengel |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Lung Diseases Pediatrics medicine.medical_specialty Anemia Endocrinology Diabetes and Metabolism Hepatosplenomegaly Lymphadenopathy Disease 030105 genetics & heredity Biochemistry 03 medical and health sciences 0302 clinical medicine Endocrinology Genetics medicine Humans Substrate reduction therapy Enzyme Replacement Therapy Molecular Biology Gaucher Disease business.industry Incidence (epidemiology) Protein losing enteropathy Enzyme replacement therapy medicine.disease Pulmonary hypertension medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Molecular genetics and metabolism. 133(4) |
| ISSN: | 1096-7206 |
| Popis: | Background Gaucher disease (GD) is a rare lysosomal storage disorder classically subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is typically characterized by clinical manifestations including anemia, thrombocytopenia, hepatosplenomegaly, bone lesions, and (in more severe forms) neurological impairment. However, less-commonly reported and often under-recognized manifestations exist, which potentially have a significant impact on patient outcomes. Greater efforts are needed to understand, recognize, and manage these manifestations. Objectives This review provides a synthesis of published information about three under-recognized GD manifestations (pulmonary involvement, lymphadenopathy, and Gaucheroma) and recommends diagnostic, management, and treatment strategies based on the available literature and author experience. The authors aim to raise awareness about these serious, progressive, and sometimes life-threatening conditions, which are often diagnosed late in life. Conclusions Little is known about the incidence, pathophysiology, prognostic factors, and optimal management of pulmonary involvement, lymphadenopathy, and Gaucheroma in patients with GD. Enzyme replacement therapy (ERT) has shown limited efficacy for the prevention and treatment of these manifestations. More research is needed to evaluate the potential effect of substrate reduction therapy (SRT) with glucosylceramide synthase (GCS) inhibitors, and to develop additional approaches to treat these GD manifestations. Improvements in data collection registries and international data-sharing are required to better understand the impact of these manifestations on GD patients, help develop effective management strategies, and, ultimately, improve patient outcomes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect