Coagulation abnormalities in type 1 Gaucher disease in children

Area of Science:

• Biochemistry
• Hematology
• Genetics

Background:

• Gaucher disease is a prevalent inherited lysosomal storage disorder due to beta-glucocerebrosidase deficiency.
• Type 1 Gaucher disease is the non-neuropathic form, often associated with bleeding issues.
• Bleeding in Gaucher disease is linked to thrombocytopenia, but coagulation and fibrinolysis factors may also be involved.

Purpose of the Study:

• To investigate coagulation parameters in Egyptian children with type 1 Gaucher disease.
• To assess coagulation factor levels in newly diagnosed patients and those on enzyme replacement therapy (ERT).

Main Methods:

• Evaluated coagulation profiles, including specific coagulation factors, in ten Egyptian children with type 1 Gaucher disease.
• Study included five newly diagnosed patients and five patients receiving ERT.

Main Results:

• Newly diagnosed patients showed deficiencies in factors II and VII (40%), factor V (20%), and low fibrinogen (100%).
• Patients on ERT exhibited deficiencies in factors VII and VIII (60%), factor XI (40%), and factors V, X, and XII (20%).

Conclusions:

• Egyptian patients with type 1 Gaucher disease, regardless of diagnosis or ERT status, present with coagulation factor abnormalities.
• These coagulation abnormalities necessitate careful consideration before surgical procedures such as splenectomy.