Aplastic Anemia Clinical Presentation

Updated: Apr 04, 2017
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

The clinical presentation of patients with aplastic anemia includes symptoms related to the decrease in bone marrow production of hematopoietic cells. The onset is insidious, and the initial symptom is frequently related to anemia or bleeding, although fever or infections may be noted at presentation. Specific manifestations include the following:

  • Anemia: May manifest as pallor, headache, palpitations, dyspnea, fatigue, or foot swelling
  • Thrombocytopenia: May result in mucosal and gingival bleeding or petechial rashes
  • Neutropenia: May manifest as overt infections, recurrent infections, or mouth and pharyngeal ulcerations

Most cases of aplastic anemia are idiopathic, [5] and the search for an etiologic agent is often unproductive. Obtain an appropriately detailed work history, with emphasis on solvent exposure, as well as a family, environmental, and infectious disease history.

In the absence of obvious phenotypic features, the presentation of a patient with an inherited marrow-failure syndrome is subtle, and a thorough family history may first suggest the condition, as well as potentially identify rarer inherited marrow-failure syndromes.

With regard to environmental agents, the time course of aplastic anemia and exposure to the offending agent varies greatly, and only rarely is an environmental etiology identified.

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Physical Examination

Physical examination may show signs of anemia (eg, pallor, tachycardia) and of thrombocytopenia (eg, petechiae, purpura, ecchymoses). Overt signs of infection are usually not apparent at diagnosis. A subset of patients with aplastic anemia present with jaundice and evidence of clinical hepatitis. [1, 2] Findings of adenopathy or organomegaly should suggest an alternative diagnosis (eg, hepatosplenomegaly and supraclavicular adenopathy are observed more frequently in cases of leukemia and lymphoma than in cases of aplastic anemia).

In any case of suspected aplastic anemia, look for physical stigmata of inherited marrow-failure syndromes, such as the following:

  • Abnormal skin pigmentation
  • Short stature
  • Renal, cardiac, and gastrointestinal (GI) abnormalities
  • Microcephaly
  • Microphthalmos
  • Hypogonadism
  • Skeletal anomalies

The oral pharynx, hands, and nail beds should be carefully examined for clues of inherited bone marrow-failure syndromes. Oral leukoplakia in dyskeratosis congenita is shown in the image below.

Oral leukoplakia in dyskeratosis congenita. Oral leukoplakia in dyskeratosis congenita.
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