Table 5.

Supportive Treatment of Manifestations in Individuals with Acid Sphingomyelinase Deficiency

Manifestation/Concern 1Treatment 2Considerations/Other
  • Regular consultation w/dietician to assure that calorie intake is adequate for growth
  • Feeding therapy
  • Nasogastric tube feeding or surgical placement of feeding tube should be discussed.
Feeding difficulties can make provision of adequate calories a major challenge.
Liver dysfunction
  • Supportive mgmt may be indicated (e.g., diuretics for ascites, vitamin K for coagulopathy).
  • Liver transplantation has been used successfully in liver failure due to ASMD.
Bleeding disorder Transfusion of blood products when bleeding is life threatening
Splenomegaly Partial splenectomy may be considered for persons w/severe hypersplenism, although surgical risks are significant due to multisystemic disease & bleeding risks.Total splenectomy should be avoided because removal of spleen exacerbates pulmonary disease.
Pulmonary disease Supplemental oxygen for those w/symptomatic pulmonary diseaseOther treatments for interstitial lung disease (e.g., steroids) have not been well studied. Several persons have undergone bronchopulmonary lavage w/variable results. 3
neurologic disease /
  • PT & OT to maximize function & prevent contractures
  • Early intervention & developmental support for those w/developmental issues
Aggressive therapy for infants w/NPD-A is not warranted & plan for such treatment should be made in consultation w/neurologist, therapist(s), & family to establish realistic goals.
Hyperlipidemia Adults w/hyperlipidemia may be treated to bring serum concentration of total cholesterol into normal range.Although not studied specifically in ASMD, statins have been used in adults w/ASMD. 4
Osteopenia Calcium & vitamin D for osteopenia/osteoporosis
Sleep disorder Consider sedatives as needed.Irritability & sleep disturbance are quality-of-life issues for entire family.

ASMD = acid sphingomyelinase deficiency; NPD-A = infantile neurovisceral ASMD (Niemann-Pick disease type A); OT = occupational therapy; PT = physical therapy


Some of these manifestations may be ameliorated by ERT (see Table 4).


Many of these treatments apply to those who are not receiving ERT or for whom ERT has not resulted in significant improvement to the manifestation or concern in question.


Author, personal observation

From: Acid Sphingomyelinase Deficiency

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