Table 6.

Recommended Surveillance for Individuals with Acid Sphingomyelinase Deficiency

System/ConcernEvaluationFrequency
Growth/Nutrition
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Cardiac EKGAnnually
EchocardiogramEvery 2-4 yrs
Liver function Serum chemistries incl liver transaminases (ALT, AST), albumin, & clotting factorsAt least annually
Hematologic
  • Assess for fatigue, abdominal pain, &/or ↑ bleeding.
  • Platelet count
Hepatosplenomegaly Radiologic measurements of liver & spleen sizeAt baseline & as needed
Pulmonary Assess for shortness of breath.At each visit
Pulmonary function testingAnnually
Chest radiographEvery 2-4 yrs
Neurologic Assess neurologic function & frequency of headaches.At least annually
Developmental
  • Monitor developmental progress & educational needs.
  • Evaluate OT & PT needs.
At each visit
Hyperlipidemia Fasting lipid profileAt least annually
Musculoskeletal Assess for extremity pain.At each visit
Bone density assessment (DXA scan)Every 2-4 yrs
Family support
& resources 		Assess for any change in social, domestic, or school- or work-related activities.At each visit

ALT = alanine aminotransaminase; AST = aspartate aminotransferase; DXA = dual-energy x-ray absorptiometry; OT = occupational therapy; PT = physical therapy

From: Acid Sphingomyelinase Deficiency

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