Gaucher’s disease in Rwandan patients, diagnostic and therapeutic challenges: a case series

INTRODUCTION: Gaucher disease is a rare genetic disorder due to deficiency of glucocerebrosidase. Its symptoms are similar to the common hematological, tropical and neurological diseases challenging most of the clinicians.
Prompt treatment is crucial to prevent life-threatening complications but high cost of the enzyme replacement therapy (ERT) makes its management very challenging in resource-limited setting as reported in two cases below.

CASES
We report on two children who presented with a history of nose bleeding, abdominal distension, fever, and recurrent anemia needing repetitive transfusions. Both had hepatomegaly and very massive splenomegaly.
The first child was treated as a case of tropical splenomegaly for a year without improvement and later the inborn error of metabolism was suspected and Gaucher disease confirmed after being transferred to India for testing. A homozygous missense mutation c.1448T>C p.(Leu483Pro) was identified in GBA gene. According to HGMD Professional 2019.1, this variant has previously been described as disease causing for Gaucher disease type 1.
The ERT became available later under the support from Pfizer then the patient was treated and he improved his clinical condition.

The second patient presented at 2 years of age with symptoms while her twin was completely healthy. She was diagnosed to carry the same missense mutation c.1448T>C p.(Leu483Pro) causing Gaucher disease type 1. Unfortunately, she died as the pediatric team was still trying to get ERT. The remaining twin was also diagnosed with Gaucher disease type 1 and later on she started having episodes of anemia and thrombocytopenia. Her ERT was promised by SANOFI Genzyme and she was still waiting for treatment when we reported these observations.

CONCLUSION
Reporting these cases highlights the need for awareness and consideration of Gaucher disease among differential diagnoses made by clinicians. It also stresses the need for timely affordable and accessible diagnostic tools and treatment, as early diagnosis and treatment are crucial for good outcome..

Keywords
Gaucher disease; glucocerebrosidase; lysosomal storage; Enzyme Replacement Therapy; macrophage