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What Are the Signs and Symptoms of ASMD?

ASMD types A/B and B: Manifestations progress less rapidly than in type A and may include any combination of the following1

Hepatomegaly is seen in >70% of patients1,2*
Symptoms of hepatomegaly include enlarged abdomen and abdominal pain1,3

  • Hepatomegaly
  • Fibrosis and cirrhosis
  • Dyslipidemia


  • Splenomegaly (can be up to 30 times normal size)
  • Pain, pressure, and early satiety due to enlarged spleen


  • Interstitial lung disease (ILD)
  • Respiratory infections, including pneumonia
  • Shortness of breath and chronic fatigue


  • Thrombocytopenia
  • Excessive bleeding and easy bruising
  • Anemia
  • Leukopenia
  • Severe abnormalities (cognitive impairment, loss of motor function, etc)
  • Hypotonia/hyporeflexia


  • Coronary artery or heart valve disease


  • Back, limb, and/or joint pain
  • Pathologic fractures
  • Osteopenia
  • Osteoporosis in adults


  • Growth delay and puberty delay in adolescents, with adult heights in the low-normal range
  • Excessive bleeding and easy bruising
  • Delays in reaching developmental milestones in children
  • Learning disabilities, changes in behavior, and/or loss of mobility and coordination

*Symptom prevalence data for hepatomegaly is only for patients with ASMD type B.


  1. McGovern MM, et al. Orphanet J Rare Dis. 2017;12(1):41. doi:10.1186/s13023-017-0572-x
  2. Cox GF, et al. JIMD Rep. 2018;41:119-129.
  3. National Organization for Rare Disorders. Acid sphingomyelinase deficiency. Accessed February 3, 2023.

Potential Hepatic Manifestations of ASMD Often Overlap With Hepatic Disorders and Other Lysosomal Storage Diseases

Potential hepatic symptoms of ASMD ASMD1 Chronic hepatitis B1-3 Nonalcoholic fatty liver disease4,5 Cryptogenic cirrhosis1,6,7 Niemann-Pick disease type C1,8,9 Lysosomal acid lipase deficiency1,10,11 Gaucher disease1,12,13
Elevated hepatic enzymes
Hepatic failure
Portal hypertension

*Aminotransferase levels, such as AST and ALT, are typically only mildly elevated or normal in those with cryptogenic cirrhosis.6
Development of end-stage liver disease is rare with Gaucher disease and tends to include the associated complications of hepatic decompensation.12
ALT=alanine aminotransferase; ASMD=acid sphingomyelinase deficiency; AST=aspartate aminotransferase.


  1. McGovern MM, et al. Genet Med. 2017;19(9):967-974.
  2. Hepatitis B Foundation. Other Tests. Accessed February 3, 2023.,risk%20of%20potential% 20liver%20damage
  3. Terrault NA, et al. Hepatology. 2018;67(4):1560-1599.
  4. Chalasani N, et al. Hepatology. 2018;67(1):328-357.
  5. Miao L, et al. Port Hypertens Cirrhos. 2022;1:57-65.
  6. Patel N, et al. Cryptogenic cirrhosis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; September 12, 2022.
  7. Mercado-Irizarry A, et al. Clin Liver Dis (Hoboken). 2016;7(4):69-72.
  8. Rodriguez-Gil JL, et al. Am J Med Genet A. 2021;185(10):3111-3117.
  9. Twarling A, et al. J Diagn Med Sonogr. 2004;20(4):198-201.
  10. Hoffman EP, et al. Lysosomal Acid Lipase Deficiency. In: Adam MP, et al, eds. GeneReviews®. University of Washington, Seattle; 2015. Initial posting July 30, 2015; last update September 1, 2016. Accessed January 30, 2023.
  11. Strebinger G, et al. Hepat Med. 2019;11:79-88.
  12. Adar T, et al. Blood Cells Mol Dis. 2018;68:66-73.
  13. Starosta RT, et al. Mol Genet Metab Rep. 2020;22:100564. doi:10.1016/j.ymgmr.2019.100564.
MAT-BH-2400417-V1-July 2024