Program Operations Manual System (POMS)
TN 56 (05-23)
DI 23022.355 Amegakaryocytic Thrombocytopenia
COMPASSIONATE ALLOWANCES INFORMATION
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AMEGAKARYOCYTIC THROMBOCYTOPENIA
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ALTERNATE NAMES
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Inherited Bone Marrow Failure Syndrome; IBMFS; Congenital Amegakaryocytic Thrombocytopenia;
CAMT; AAT; Acquired pure megakaryotic aplasia; Thrombocytopenia congenital amegakaryotic
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DESCRIPTION
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Amegakaryocytic Thrombocytopenia is a rare, inherited bone marrow failure syndrome (IBMFS) in young children where
the bone marrow fails to produce platelets or megakaryocytes. This prohibits the blood
from clotting clot if they start to bleed. Over time, the bone marrow may also cease
making red blood cells and neutrophils. Mutation of the gene Amega (MPL) is the cause
of the disease. Clinical manifestations including petechiae (tiny purplish, red spots
of bleeding into the skin), bruising, and bleeding, usually beginning at birth or
within the first year of life.
About half of the people with IBMFS have characteristic physical findings including
neurologic and cardiac anomalies. Over time, complete failure of the bone marrow to
produce other blood products (aplastic anemia) also occurs in nearly half of the children.
The diagnosis of this syndrome is usually made by 1 month of age. Some people are
at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Definitive diagnostic lab testing includes MPL analysis (genetic testing); bone marrow
aspirate, and biopsy specimens showing normal cellularity, with markedly reduced or
absent megakaryocytes. Laboratory studies are needed to confirm the diagnosis.
Physical findings: Individuals with this condition may have:
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Bleeding, which can be life threatening; and
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Petechiae (tiny red dots under the skin that are a result of very small bleeds into
the skin).
Children with CAMT can also have:
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Central nervous system abnormalities;
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Delays of psychomotor development;
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Other rare malformations.
ICD-9: 287.33
ICD-10: D69.6
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PROGRESSION |
Onset begins within the first month of life. Life-threatening complications include:
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Thrombocytopenic bleeding;
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Malignant myeloid leukemia.
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TREATMENT
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Stem cell transplant remains the only curative treatment for this disorder. Only small
fractions of people have a suitable sibling transplant donor. Children with this disorder
are treated with platelet transfusions.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination that describes diagnostic features of the impairment; and
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Laboratory tests showing results of chromosomal and gene analysis.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS |
Meets
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107.10
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Disorders of bone marrow failure |
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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