Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Acid Sphingomyelinase Deficiency

System/ConcernEvaluationComment
Growth/Nutrition
  • Growth assessment
  • Gastroenterology / nutrition / feeding team eval
In persons w/NPD-A:
  • Incl eval of aspiration risk & nutritional status.
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
In persons w/NPD-B:
  • Assess nutritional status incl appropriate caloric, calcium, & vitamin D intake.
Bone age in children age <18 yrs
  • Skeletal age, often delayed, is useful for interpreting DXA scans.
  • Knowledge about additional potential growth yrs can be reassuring to families concerned about child's stature.
Liver function Serum chemistries incl liver transaminases (ALT, AST), albumin, & clotting factorsTo evaluate for progression of hepatic dysfunction
Liver elastography or FibroScan®To evaluate for hepatic fibrosis & cirrhosis
Liver biopsy in persons w/evidence of deteriorating liver function may be indicated if noninvasive means to ascertain fibrosis are not available.
Hepatosplenomegaly Radiologic exam w/measurement of liver & spleen size
Hematologic Compete blood countTo evaluate for thrombocytopenia, leukopenia, & anemia
Pulmonary Chest radiograph
  • To assess extent of interstitial lung disease
  • Should be done at time of diagnosis regardless of age
Pulmonary function testing, incl assessment of diffusing capacityIn persons old enough to cooperate
Ophthalmologic Ophthalmologic exam
  • Optional
  • No visual consequences of cherry-red spots are known; their presence does not imply neuronopathic disease, as they are found in many adults w/NPD-B.
Neurologic Comprehensive neurologic evalEsp important in infants when NPD-A diagnosis is under consideration
Hyperlipidemia Fasting lipid profileIn those w/NPD-B & NPD-A/B
Cardiac CT exam of coronary artery status
Musculoskeletal Assess for frequent fractures &/or extremity pain.
Developmental Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of ASMD to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ALT = alanine aminotransaminase; ASMD = acid sphingomyelinase deficiency; AST = aspartate aminotransferase; DXA = dual-energy x-ray absorptiometry; MOI = mode of inheritance; NPD-A = infantile neurovisceral ASMD (Niemann-Pick disease type A); NPD-A/B = chronic neurovisceral ASMD (intermediate form); NPD-B = chronic visceral ASMD (Niemann-Pick disease type B)

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Acid Sphingomyelinase Deficiency

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