Program Operations Manual System (POMS)
TN 32 (08-20)
DI 23022.770 Hypophosphatasia--Perinatal (Lethal) and Infantile Onset Types
COMPASSIONATE ALLOWANCES INFORMATION
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HYPOPHOSPHATASIA--PERINATAL (LETHAL) and
INFANTILE ONSET TYPES
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ALTERNATE NAMES
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Alkaline Phosphotase Deficiency; Perinatal Lethal Hypophosphatasia; Hypophosphatasia
Perinatal Lethal Form; Perinatal Rathburn Disease; Phosphoethanolaminuria; Hypophosphatasia
Lethal Form; Hypophosphatasia Infantile Onset; Rathburn's Disease
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DESCRIPTION
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Hypophosphatasia is a rare, inherited metabolic disorder that affects the development of bones and
teeth. There are several forms of this disorder, with the perinatal (lethal) and
infantile onset types being the most severe.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Diagnostic testing consisting of subnormally low activity of tissue non-specific alkaline
phosphatase (TNALP) enzyme in serum; bone imaging of the bones shows severe demineralization,
especially in the metaphyses (the wider part at the extremity of the shaft of a long
bone).
Physical
findings:
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A near absence of skeletal mineralization;
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Skin-covered spurs of the knees and elbow;
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Large fontanels (space between the bones of the skull);
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Hypercalcemia (higher than normal level of calcium in your blood); and
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Multiple congenital abnormalities, leading to respiratory failure.
ICD-9:
275.3
ICD-10:
E83.3
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PROGRESSION
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For perinatal (lethal) onset hypophosphatasia, death occurs either in-utero or within
the first months of life. Infantile onset hypophosphatasia presents within the first
year of life, and has 50% mortality. The cause of death is usually due to respiratory
failure. Perinatal (benign) hypophosphatasia type is characterized by prenatal skeletal
manifestations that slowly resolve into the milder childhood and adult onset hypophosphatasia
types, which have variable clinical courses.
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TREATMENT
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Currently there is no cure or definitive treatment for this disorder.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Laboratory testing for identified enzyme changes; or
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Imaging documenting decreases in bone mineralization.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 A
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Evaluate the perinatal (lethal) onset type of hypophospatasia, under listing 110.08
A.
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110.08 B
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Evaluate perinatal (benign), child, and adult onset hypophosphatasia types on a case-by-case
basis.
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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