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. 2019 Nov 22;135(7):472–490. doi: 10.1182/blood.2019003599

Table 3.

Bone marrow failure states presenting with isolated thrombocytopenia

Primary ITP3,78 FA30 CAMT109 DC110 SDS111 MDS39,112
Clinical characteristics
 Age at presentation Any age, more common after age 65 y Young children (6-9 y), but up to 40 y of age Type I: newborn. Type II: 3-6 y. Young children (<5 y) and up to 40 y of age Infancy/early childhood and up to 30 y of age Most common in older adults
 Incidence 1-6.4:100 000 1:1 million Rare <1:1 million Rare 1-4:1 million
 Distinguishing features Isolated thrombocytopenia with petechiae/bruising in a healthy-looking patient Could present as isolated thrombocytopenia at any age; thumb/skeletal abnormalities, short stature. Isolated severe thrombocytopenia in neonate; often progresses to complete AA within several years; 1/3 with skeletal abnormalities. Skin/nail abnormalities Exocrine pancreas dysfunction Other abnormalities on CBC and dyspoiesis in BM, possibly associated with trisomy 8 or 21, FA, etc.
Diagnostic tests CBC, peripheral blood smear. ↓↓plt: normal or increased in size. Normal RBCs and WBCs. Rule out other causes. BM evaluation, DEB, MMC. Genetic panel and WES. BM evaluation: reduced/absent megakaryocytes; genetic panel and WES. BM evaluation. Telomere length. Genetic panel and WES. Pancytopenia, BM, fecal studies: elastase, trypsinogen; serum trypsinogen, isoamylase; genetic panel and WES. BM evaluation. Cytogenetics: 5q del, 7 del, trisomy 8; genetic panel and WES.
Rule out viral infections: PCR/IgM/IgG of CMV, hepatitis, EBV, HIV, parvovirus. Rule out drugs/toxins. Rule out renal, hepatic, thyroid dysfunction.
 Molecular characteristics None identified Mutations in FANCA, FANCC, FANG genes. Mutation in c-Mpl gene 11 gene mutations Mutations in SBDS gene Monosomy 7, trisomy 8 or 21.
Clinical approach Standard first- and second-line treatment Transfusions, androgens, HSCT, TPO-RA, G-CSF. Transfusions, HSCT. Transfusions, androgens, HSCT, TPO-RA, G-CSF Supportive. HSCT. Plt transfusions. Chemotherapy. HSCT. TPO-RA (controversial).

↓↓ indicates a significant decrease in value.

AA, aplastic anemia; BM, bone marrow; CAMT, congenital amegakaryotic thrombocytopenia; CMV, cytomegalovirus; DEB, diepoxybutane test; del, deletion; EBV, Epstein-Barr virus; G-CSF, granulocyte-colony stimulating factor; HSCT, hematopoietic stem cell transplant; MMC, mitomycin C; PCR, polymerase chain reaction; Plt/plt, platelets; RBC, red blood cells; SDS, Shwachman-Diamond syndrome; WAS, Wiskott-Aldrich syndrome; WBC, white blood cells; WES, whole-exome sequencing.