DIAGNOSING ASMD

Early diagnosis is key to enabling appropriate
symptom management1,2

Include ASMD and Gaucher disease in your differential diagnosis and parallel test

ASMD symptoms vary in onset and clinical presentation, and often overlap with more commonly seen and considered conditions. Due to this variability and symptom overlap, diagnostic delays are common.1-3

Diseases of the heart, liver, lungs, and hematologic malignancies may exhibit symptoms similar to ASMD. Another lysosomal storage disorder, Gaucher disease type 1, shares significant symptom overlap with ASMD.2

*Based on a prospective, cross-sectional survey of 59 ASMD type B patients.

April is living with ASMD April,
Living with ASMD

A diagnostic approach for ASMD based on expert guidelines2:

Splenomegaly and hepatomegaly are often the first presenting signs of ASMD and Gaucher disease. Further evaluations may reveal other compounding symptoms that should prompt diagnostic testing.2

Splenomegaly and hepatomegaly are often the first presenting signs of ASMD and Gaucher disease

HDL-C=high-density lipoprotein cholesterol.

Adapted from McGovern MM et al. Genet Med. 2017;19(9):967-974.

Parallel testing for ASMD and Gaucher disease is recommended in expert guidelines2,4†

Parallel testing for ASMD and Gaucher disease is recommended in expert guidelines

†Guidelines are based on a consensus of opinion from an international group of experts in ASMD.

Signs and symptoms of ASMD
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References:
  1. McGovern MM, Avetisyan R, Sanson BJ, Lidove O. Orphanet J Rare Dis. 2017;12(1):41.
  2. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Genet Med. 2017;19(9):967-974.
  3. McGovern MM, Wasserstein MP, Giugliani R, et al. Pediatrics. 2008;122(2):e341-e349.
  4. Mistry PK, Capellini MD, Lukina E, et al. Am J Hematol. 2011;86(1):110-115.