Early Onset, But Late Diagnosis of a Rare Disease

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Authors

  • Pamela Farah Department of Internal Medicine and Clinical Immunology, University Hospital Center Hotel-Dieu de France, Affiliated to Saint-Joseph University, Beirut, Lebanon
  • Pascale Daniel Department of Internal Medicine and Clinical Immunology, University Hospital Center Hotel-Dieu de France, Affiliated to Saint-Joseph University, Beirut, Lebanon
  • Georges El Khoury Department of Orthopedic Surgery, University Hospital Center Hotel-Dieu de France, Affiliated to Saint-Joseph University, Beirut, Lebanon
  • Rami El Rachkidi Department of Orthopedic Surgery, University Hospital Center Hotel-Dieu de France, Affiliated to Saint-Joseph University, Beirut, Lebanon
  • Aline Tohme Department of Internal Medicine and Clinical Immunology, University Hospital Center Hotel-Dieu de France, Affiliated to Saint-Joseph University, Beirut, Lebanon

DOI:

https://doi.org/10.17140/IMOJ-3-108

Keywords:

Gaucher disease, Bone lesion, Splenomeagly

Abstract

One of the most common sphingolipidosis, Gaucher disease (GD) remains rare till date. A case report of a 56-year-old patient diagnosed with GD is presented herein. Her sister was known to have Gaucher disease. Her personal medical record consisted of splenectomy, anemia, recurrent infections, and bone lesions at a young age. Taking into consideration her personal and familial history, the clinical and paraclinical examinations, she was diagnosed with Gaucher disease which was confirmed with enzyme and gene testing. Upon introduction of specific enzyme replacement treatment for Gaucher patients,much evidence demonstrated the substantial improvement of hematological and visceral parameters. However, it has been observed that the bone tissue does not respond equally to the treatment.
Learning Points
• The physician should always investigate the splenomegaly of unknown etiology before deciding to do a splenectomy

References

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Mucci JM, Rozenfeld P. Pathogenesis of bone alterations in Gaucher disease: The role of immune system. J Immunol Res. 2015; 2015: 192761. doi: 10.1155/2015/192761

Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imi-glucerase treatment. J Inherit Metab Dis. 2013; 36(3): 543-553. doi: 10.1007/s10545-012-9528-4

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Published

2019-07-17

How to Cite

Pamela Farah, Pascale Daniel, Georges El Khoury, Rami El Rachkidi, & Aline Tohme. (2019). Early Onset, But Late Diagnosis of a Rare Disease. Internal Medicine, 3(1), 1–3. https://doi.org/10.17140/IMOJ-3-108

Issue

Vol. 3 No. 1 (2019): Volume 3 Issue 1 2019

Section

Articles

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

All content published in Internal Medicine (IMOJ) is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0). This license allows anyone to copy, distribute, transmit, and adapt the work — including for commercial purposes — provided appropriate credit is given to the original author(s) and source.