Coagulation abnormalities in type 1 Gaucher disease in children

Akram Deghady, Iman Marzouk, Ayman El-Shayeb, Yasseer Wali

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Gaucher disease is the most prevalent inherited lysosomal storage disorder caused by deficiency of β-glucocerebrosidase enzyme. Clinically, 3 forms of Gaucher disease are recognized, of which type 1 is the mild to moderately severe, slowly progressive, nonneuropathic form. Bleeding disorders in Gaucher disease are believed to be due to thrombocytopenia but there may be additional factors that influence coagulation and fibrinolysis in Gaucher disease patients. The aim of the present work was to study some coagulation parameters in the Egyptian children with type 1 Gaucher disease. Five newly diagnosed patients and another 5 patients on enzyme replacement therapy (ERT) were enrolled in the study. Their coagulation profile, including coagulation factors, was evaluated. The results showed that in newly diagnosed cases factors II and VII were deficient in 40%, factor V was deficient in 20%, and all the cases had low levels of serum fibrinogen. In patients on ERT, factors VII and VIII were deficient in 60%, factor XI was deficient in 40% and factors V, X, and XII were deficient in 20% of cases. In conclusion, Egyptian patients with type 1 Gaucher disease, whether newly diagnosed or receiving enzyme replacement therapy, experience coagulation factor abnormalities regardless the clinical expression of bleeding diathesis. This should be taken into consideration before these patients are subjected to surgery for, e.g., splenectomy, which is common in these patients.

Original languageEnglish
Pages (from-to)411-417
Number of pages7
JournalPediatric Hematology and Oncology
Volume23
Issue number5
DOIs
Publication statusPublished - Jun 1 2006

Fingerprint

Gaucher Disease
Enzyme Replacement Therapy
Blood Coagulation Factors
Factor VII
Factor V
Factor XI
Hemorrhage
Factor XII
Disease Susceptibility
Factor VIII
Prothrombin
Fibrinolysis
Splenectomy
Thrombocytopenia
Fibrinogen
Enzymes
Serum

Keywords

  • β-glucocerebrosidase enzyme deficiency
  • Egypt
  • Gaucher disease

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology
  • Pediatrics, Perinatology, and Child Health

Cite this

Coagulation abnormalities in type 1 Gaucher disease in children. / Deghady, Akram; Marzouk, Iman; El-Shayeb, Ayman; Wali, Yasseer.

In: Pediatric Hematology and Oncology, Vol. 23, No. 5, 01.06.2006, p. 411-417.

Research output: Contribution to journalArticle

Deghady, Akram ; Marzouk, Iman ; El-Shayeb, Ayman ; Wali, Yasseer. / Coagulation abnormalities in type 1 Gaucher disease in children. In: Pediatric Hematology and Oncology. 2006 ; Vol. 23, No. 5. pp. 411-417.
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