- Article
- Source: Campus Sanofi
- May 20, 2025
What Are the Signs and Symptoms of ASMD?
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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
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LIVER
- Hepatomegaly
- Fibrosis and cirrhosis
- Dyslipidemia
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NEUROLOGIC
- Severe abnormalities (cognitive impairment, loss of motor function, etc)
- Hypotonia/hyporeflexia
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SPLEEN
- Splenomegaly (can be up to 30 times normal size)
- Pain, pressure, and early satiety due to enlarged spleen
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CARDIAC
- Coronary artery or heart valve disease
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LUNGS
- Interstitial lung disease (ILD)
- Respiratory infections, including pneumonia
- Shortness of breath and chronic fatigue
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SKELETAL
- Back, limb, and/or joint pain
- Pathologic fractures
- Osteopenia
- Osteoporosis in adults
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HEMATOLOGIC
- Thrombocytopenia
- Excessive bleeding and easy bruising
- Anemia
- Leukopenia
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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.
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McGovern MM, et al. Orphanet J Rare Dis. 2017;12(1):41. doi:10.1186/s13023-017-0572-x
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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 | Hepatomegaly | Elevated hepatic enzymes | Fibrosis/ cirrhosis | Hepatic failure | Portal hypertension |
| 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 | ✔ | ✔ | ✔ | ✔† | ✔ |
*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.
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McGovern MM, et al. Genet Med. 2017;19(9):967-974.
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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
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Chalasani N, et al. Hepatology. 2018;67(1):328-357.
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Miao L, et al. Port Hypertens Cirrhos. 2022;1:57-65.
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Patel N, et al. Cryptogenic cirrhosis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; September 12, 2022.
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Mercado-Irizarry A, et al. Clin Liver Dis (Hoboken). 2016;7(4):69-72.
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Rodriguez-Gil JL, et al. Am J Med Genet A. 2021;185(10):3111-3117.
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Twarling A, et al. J Diagn Med Sonogr. 2004;20(4):198-201.
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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/.
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Strebinger G, et al. Hepat Med. 2019;11:79-88.
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Adar T, et al. Blood Cells Mol Dis. 2018;68:66-73.
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Starosta RT, et al. Mol Genet Metab Rep. 2020;22:100564. doi:10.1016/j.ymgmr.2019.100564.
MAT-BH-2400417-V1-July 2024