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CC BY-NC-ND 4.0 · Ibnosina Journal of Medicine and Biomedical Sciences 2021; 13(04): 236-239
DOI: 10.4103/ijmbs.ijmbs_74_21
Case Report

Challenges in the diagnosis and management of gaucher's disease in a young adult libyan arab female

Nada Fawaris
1   Department of Internal Medicine, Tripoli Central Hospital, Tripoli
,
Mohamed Esaadi
1   Department of Internal Medicine, Tripoli Central Hospital, Tripoli
,
Ali Tumi
1   Department of Internal Medicine, Tripoli Central Hospital, Tripoli
,
Aisha Elhamedi
2   Department of Pathology, Tripoli University Hospital, Tripoli
,
Ahmed Al Montasir
3   Department of Internal Medicine, TMSS Medical College
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Gaucher's disease is a rare lysosomal storage disease that can present with a wide range of clinical symptoms according to type and severity, ranging from mild general wellbeing, organomegaly, pancytopenia, neurological symptoms, lung involvement, and even death, making the diagnosis and work up challenging to reach a diagnosis. We report a Libyan Arab female presented with bruises after minor trauma, bone aches, and fatigue. A 35-year-old female from Libyan–Arab ethnicity attended the hematology clinic complaining of bruises after minor trauma, bone aches, and undue fatigability. She mentioned and evident from her medical record that she has been suffering from these complaints for 5 years and does not have any definite diagnosis. Mild splenomegaly was the only finding on clinical examination this time. There was no fever and no lymphadenopathy. Thrombocytopenia with a platelet count 90 × 10 and quot; 3/ml, and splenomegaly of 16 cm was found on investigations. She was diagnosed with cryptogenic thrombocytopenia, and she was advised for a follow-up visit. Our patient attended a follow-up visit twice in the next 18 months with similar complaints of manageable bruising, bone pain, and fatigability. Hematology reports showed thrombocytopenia in each visit. An ultrasonogram of the abdomen revealed a gallbladder stone and spleen have a size of 17 cm. Bone marrow biopsy was done, and a blood test confirmed glucocerebrosidase enzyme deficiency. Considering the diagnosis of Gaucher's disease, treatment with imiglucerase infusion was started. Unfortunately, she failed to continue the treatment due to a shortage of supply of the medication. A few months later, she got pregnant and developed threatened abortion, which ended with a miscarriage. This case illustrates the need to consider this disease in the differential diagnoses when dealing with unexplained thrombocytopenia, anemia, hepatomegaly, and splenomegaly. There are several challenges in the diagnosis and treatment of Gaucher's disease, particularly in resource-limited settings.

Key-words:

Delayed diagnosis - Gaucher's disease - Libya - treatment challenges

Financial support and sponsorship

Nil.




Publikationsverlauf

Eingereicht: 07. Oktober 2021

Angenommen: 06. November 2021

Artikel online veröffentlicht:
14. Juli 2022

© 2021. The Libyan Authority of Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is given appropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Birch CA. Gaucher's disease. Phillipe Charles Ernest Gaucher (1854-1918). Practitioner 1973;210:580.
  • 2 Bali DS, El-Gharbawy A, Austin S, Pandya S, Kishnani PS. Glycogen storage disease type I. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LH, Mirzaa G. et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/. [Last accessed on 2006 Apr 19; Last updated on 2021 Oct 14].
  • 3 Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372:1263-71.
  • 4 Gaucher E. Primary epithelioma of the spleen: Idiopathic hypertrophy of the spleen without leukemia: Thesis for the doctorate in medicine presented and defended on January 28, 1882. Thesis: Medicine: Paris: 1882.
  • 5 National Gauchers Foundation. Living a Better Today. Available from: https://www.gaucherdisease.org. [Last accessed on 2021 Nov 01].
  • 6 Beutler E, Grabowski GA. Glucosylceramide lipidosis-Gaucher disease. In: The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. New York: Mc Graw-Hill; 2001. p. 3635-68.
  • 7 Zimran A. How I treat Gaucher disease. Blood 2011;118:1463-71.
  • 8 Ash Image Bank. Waldenström macroglobulinemia with pseudo-Gaucher cells. Blood 2010;116:3388.
  • 9 Shawky RM, Elsayed SM. Treatment options for patients with Gaucher disease. Egypt J Med Hum Genet 2016;17:281-5.
  • 10 The Genetic Epidemiology of Orphan Diseases in North Africa, Published Online by Cambridge University Press; December 02, 2019. Available from: https://www.cambridge.org/core/books/abs/genetics-of-african-populations-in-health-and-disease/genetic-epidemiology-of-orphan-diseases-in-north-africa/C7FD4B4B0E1E9E7EA2FE8E9F480C1EBE. [Last accessed on 2021 Nov 01].
  • 11 Bouayadi O, Lyagoubi A, Aarab A, Lamrabat S, Berhili A, Bensalah M, et al. Gaucher disease: An underdiagnosed pathology in the eastern Moroccan population. EJIFCC 2019;30:82-7.
  • 12 Goldblatt J, Beighton P. Gaucher's disease in South Africa. J Med Genet 1979;16:302-5.