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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

LIVER
  • Hepatomegaly
  • Fibrosis and cirrhosis
  • Dyslipidemia

SPLEEN

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

LUNGS

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

HEMATOLOGIC

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

CARDIAC

  • Coronary artery or heart valve disease

SKELETAL

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

GROWTH AND DEVELOPMENT

  • 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.

References

  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. https://rarediseases.org/rare-diseases/acid-sphingomyelinase-deficiency/?filter=Signs%2B%26%2BSymptomsa.

Potential Hepatic Manifestations of ASMD Often Overlap With Hepatic Disorders and Other Lysosomal Storage Diseases1 

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
Hepatomegaly
Elevated hepatic enzymes
Fibrosis/cirrhosis
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.

References

  1. McGovern MM, et al. Genet Med. 2017;19(9):967-974.
  2. Hepatitis B Foundation. Other Tests. Accessed February 3, 2023. https://www.hepb.org/prevention-and-diagnosis/diagnosis/other-tests/#:~:text=If%20a%20person%20is%20infected,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. https://www.ncbi.nlm.nih.gov/books/NBK305870/.
  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.
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MAT-BH-2400417-V1-July 2024