On the basis of strong evidence, chronic pancytopenia in children may have a variety of acquired and congenital causes. On the basis of consensus, primary clinicians play a key role in identifying children who have pancytopenia. A high index of suspicion is indispensable because signs and symptoms of low blood cell counts are often nonspecific. Children with malaise, fatigue, pallor, bone pain, lymphadenopathy, easy bruising and bleeding, recurrent fevers or mouth ulcers, or dizziness should be screened with a complete blood cell count and differential count. On the basis of observational studies, children with acute leukemias occasionally present with pancytopenia and no leukemic blasts in peripheral blood. On the basis of strong evidence, acquired aplastic anemia is caused by autoimmune destruction of hematopoietic cells in the bone marrow. It is currently treated by stem cell transplantation or antithymocyte globulin/cyclosporine-based immunosuppression after inherited bone marrow failure syndromes are excluded. Onthe basis of strong evidence, paroxysmal nocturnalhemoglobinuria (PNH) is an acquired disorder that renders blood cells susceptible to complement-mediated destruction. PNH presents as pancytopenia, hemoglobinuria manifesting as dark urine, abdominal pain, and high risk of life-threatening thrombosis. Symptoms of PNH are successfully alleviated with the anticomplement antibody eculizumab (although clinical trials in children are needed to establish the efficacy and safety of eculizumab in childhood PNH). Stem cell transplantation provides a curative option. On the basis of observational studies, children with inherited bone marrow failure syndromes may present with subtle developmental abnormalities before the onset of clinically significant pancytopenia. Thus, patients with failure to thrive, skeletal abnormalities that include radial ray dysplasia/thumb abnormalities, craniofacial dysmorphism, VACTERL syndrome, nail/tooth abnormalities, multiple café-au-lait macules, foci of skin hypo/hyperpigmentation, or oral leukoplakia should be screened via a complete blood cell count with differential count. On the basis of consensus, children with pancytopenia require prompt referral to a pediatric hematologist-oncologist with expertise in bone marrow failure for further diagnostics and management.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health