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Bone Marrow Failure Clinical Presentation

  • Author: Srikanth Nagalla, MBBS, MS, FACP; Chief Editor: Koyamangalath Krishnan, MD, FRCP, FACP  more...
Updated: Apr 25, 2016


Patients with bone marrow failure present with 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. Months may elapse 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 their fifth or sixth decade of life. These diseases should be considered if any of the following are present: subtle, but characteristic, physical anomalies; hematologic cytopenias; unexplained macrocytosis; myelodysplastic syndrome or acute myelogenous leukemia; or 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, 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, renal 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.

Contributor Information and Disclosures

Srikanth Nagalla, MBBS, MS, FACP Director, Clinical Hematology, Cardeza Foundation for Hematologic Research; Assistant Professor of Medicine, Division of Hematology, Associate Program Director, Hematology/Medical Oncology Fellowship, Assistant Program Director, Internal Medicine Residency, Jefferson Medical College of Thomas Jefferson University

Srikanth Nagalla, MBBS, MS, FACP is a member of the following medical societies: American Society of Hematology, Association of Specialty Professors

Disclosure: Nothing to disclose.


Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.


Thomas H Davis, MD, FACP Associate Professor, Fellowship Program Director, Department of Internal Medicine, Section of Hematology/Oncology, Dartmouth Medical School

Thomas H Davis, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Education, American College of Physicians, New Hampshire Medical Society, Phi Beta Kappa, and Society of University Urologists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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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 (
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