How to Differentiate Gaucher Disease Type 1

Gaucher disease commonly mimics the manifestations of many hematological malignancies¹

Include Gaucher disease type 1 in your differential diagnosis. These charts, broken out by specialty, may help.

Please note that not all the signs and symptoms or potential differential diagnoses for Gaucher are included in this chart. Physicians should determine the appropriate differentials according to each patient's condition.

For Hematologist-Oncologists and Orthopedists^2-19

^aAcid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease types A, B, and A/B.

For Gastroenterologists, Hepatologists, and Pulmonologists^2,3,20-27

^aPulmonary symptoms are uncommon for patients with Gaucher disease type 1.

For Primary Care Physicians and Pediatricians^{2,3,5,11,12,15,16,21,22,25,28-31}

^aPulmonary symptoms are uncommon for patients with Gaucher disease type 1.

Molecular testing (DNA testing) can be used to establish a diagnosis of Gaucher disease, as well as carrier status.²

A bone marrow biopsy is typically not necessary or recommended to diagnose GD because although bone marrow biopsy specimens can rule out hematologic malignancies, they are not reliable for establishing the presence of Gaucher cells.²

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