TN 3 (02-10)
DI 23022.355 Amegakaryocytic Thrombocytopenia
Inherited Bone Marrow Failure Syndrome (IBMFS); Congenital Amegakaryocytic Thrombocytopenia (CAMT)
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 causes the child’s blood not to clot if he or she starts bleeding. 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 patients 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. Males and females are equally affected. Some people are at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).
TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnosis is usually made by 1 month of age. Definitive diagnostic lab testing includes MPL analysis (genetic testing); bone marrow aspirate, and biopsy specimens showing normal cellularity, with markedly reduced or absent megakaryocytes.
ONSET AND PROGRESSION
Onset is usually within the first month of life. Life-threatening complications include:
Stem cell transplant remains the only curative treatment for this disorder. Only a small fraction of people have a suitable sibling transplant donor. Children with this disorder are treated with platelet transfusions.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis. Laboratory tests showing results of chromosomal and gene analysis.
Suggested Listings for Evaluation:
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.