History
Patients with bone marrow failure present with the consequences of low blood counts. Low platelet counts predispose patients to spontaneous bleeding in the skin and mucous membranes. Neutropenia places the patient at risk for serious infections. Bleeding complications are usually the most alarming symptom, and infections prompt individuals to visit the emergency department.
Weakness and fatigue resulting from anemia can develop slowly and as a result, several months can lapse before the patient seeks medical help for these symptoms.
Family and personal medical histories can help to distinguish inherited causes from acquired causes. Inherited bone marrow failure is usually diagnosed in young adults but may be missed until the fifth or sixth decade of life. These diseases should be considered if any of the following are present:
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Subtle, but characteristic, physical anomalies
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Hematologic cytopenias
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Unexplained macrocytosis
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Myelodysplastic syndrome or acute myelogenous leukemia
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Squamous cell cancer, even in the absence of pancytopenia or a positive family history
Cases in which siblings of a patient with known Fanconi anemia have developed abnormal blood counts should be investigated. Exposure to toxins, drugs, and environmental hazards and recent viral infections (eg, hepatitis) should be noted.
Physical Examination
The manifestations of bone marrow failure relate to the clinical effects of low blood counts. Patients with severe anemia may present with pallor and/or signs of congestive heart failure, such as shortness of breath. Bruising (eg, ecchymoses, petechiae) on the skin, gum bleeding, or nosebleeds frequently are associated with thrombocytopenia. Fever, cellulitis, pneumonia, and sepsis can be complications of severe neutropenia.
Fanconi anemia, a form of inherited bone marrow failure, has characteristic physical developmental anomalies, including absent thumbs, absent radius, microcephaly, kidney anomalies, short stature, and abnormal skin pigmentation (ie, café-au-lait and hypopigmented or hyperpigmented spots). However, as many as half of all patients with Fanconi anemia may not exhibit obvious developmental or cutaneous manifestations, and it is increasingly clear that the diagnosis should be considered in adults with bone marrow failure, myelodysplastic syndrome, or early onset of epithelial cancer.
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This bone marrow film at 400X magnification demonstrates a complete absence of hemopoietic cells. Most of the identifiable cells are lymphocytes or plasma cells. Photographed by U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland (http://www.aum.iawf.unibe.ch/).
