Nikenza Viceconte: When Should Haematologists Suspect Gaucher Disease?
Nikenza Viceconte, Director Strategic Offerings at CENTOGENE, shared post on LinkedIn:
“An enlarged spleen, unexplained fatigue, or bone pain may be more than isolated symptoms.
Gaucher disease is a rare inherited lysosomal storage disorder caused by reduced activity of the glucocerebrosidase (GCase) enzyme, leading to the accumulation of fatty substances in cells, particularly in the spleen, liver, bone marrow, and bones.
Patients may experience enlarged liver or spleen, anemia, low platelet counts, easy bruising, fatigue, bone pain, or bone complications.
Because these manifestations can resemble other hematological or metabolic disorders, recognizing Gaucher disease can be challenging.
Recognizing the possibility of Gaucher disease can help physicians pursue the appropriate diagnostic pathway. Genetic testing can identify variants in the GBA1 gene and help clarify whether other family members may be at risk.
For families, a confirmed diagnosis can provide clarity and help guide appropriate care, monitoring, and family planning.
Recognizing rare diseases starts with recognizing the signs.”
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