Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling

Clin Pediatr (Phila). 1995 Jul;34(7):365-71. doi: 10.1177/000992289503400705.


The diagnosis of Gaucher disease, the inherited deficiency of glucocerebrosidase and the most common inherited disorder of Ashkenazi Jews, can often be missed by clinicians. Medical records from patients with Gaucher disease were reviewed, revealing a wide range of initial misdiagnoses and the frequent use of unnecessary invasive diagnostic procedures. The diagnosis of Gaucher disease is readily established by enzymatic or DNA analyses in conjunction with a thorough history and physical examination. Consequently, greater awareness of the symptoms encountered in these patients could alleviate unnecessary anxiety, testing, and confusion. A definitive diagnosis of Gaucher disease has important implications for genetic counseling and treatment.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Gaucher Disease / classification
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / genetics
  • Gaucher Disease / therapy
  • Genetic Counseling
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Time Factors