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- Title
Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.
- Authors
Dursun, Huseyin; Yildizhan, Esra; Bayram, Fahri
- Abstract
Purpose: To evaluate the demographic and clinical data of patients with type 1 Gaucher disease, a rare disease, at a single centre. Methods: The data of patients with type 1 Gaucher disease who were followed up at the Endocrinology Department of Erciyes University's Medical Faculty Hospital between 2019 and 2021 were evaluated. Results: We evaluated 13 patients with type 1 Gaucher disease who were diagnosed or followed up at our centre and whose data could be accessed. Four of the patients were male, and nine were female. The mean age at the time of diagnosis was 33 (± 11.32) years. Hepatomegaly was present in 11 of the 13 patients. Eight of the 13 patients had splenomegaly. Three patients had undergone splenectomy. The liver and spleen dimensions of two patients were normal. The platelet count was normal in three of the 10 patients without a history of undergoing splenectomy. Bone densitometry revealed that six patients had a lumbar z-score of ≤ − 2.5. Five patients had a score between − 1 and − 2.5, and two patients had a normal z-score. The mean treatment duration was 36 (± 19.46) months. All our patients were administered enzyme replacement therapy. Conclusion: Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystemic disease, patients should be followed up at centres with experience in treating Gaucher disease.
- Subjects
TURKEY; GAUCHER'S disease treatment; GAUCHER'S disease diagnosis; ENZYME replacement therapy; SPLENECTOMY
- Publication
Journal of Rare Diseases, 2023, Vol 2, Issue 1, p1
- ISSN
2731-085X
- Publication type
Article
- DOI
10.1007/s44162-023-00019-6