A 24-Year-Old Man With Symptomatic Anemia

Nicola E. Burch, MBChB, MRCP; Victoria M. Gordon, MBBS, MRCP

Disclosures

February 24, 2017

Physical Examination and Workup

Upon physical examination, the patient appears to be well, although he does exhibit significant conjunctival pallor. His pulse is regular, at 88 beats/min, and his blood pressure is 110/64 mm Hg. No lymphadenopathy, jaundice, clubbing, or edema is noted. A soft, pansystolic murmur is detected over the tricuspid and aortic valves, without any stigmata of endocarditis.

The respiratory examination is unremarkable. No masses, tenderness, or hepatosplenomegaly are noted on the abdominal examination. A rectal examination reveals no masses, gross blood, or melena. The stool is brown and heme-negative.

The patient has had multiple admissions in the past 5 years for symptomatic anemia, all with similar presentations. Each time, he was noted to have iron deficiency anemia, with a hemoglobin level between 6 g/dL and 7 g/dL, as well as low mean corpuscular volume and low serum ferritin. He has never had documented episodes of gastrointestinal (GI) or extra-GI blood loss. He has complained intermittently of nausea but has not had any vomiting.

Figure 1.

Figure 2.

Numerous investigative procedures were completed during these previous admissions; the findings of these procedures included normal endoscopic findings (however, no D2 biopsies were done) and negative tissue transglutaminase, with normal levels of immunoglobulin A. Autoantibody findings (antinuclear antibody, antineutrophil cytoplasmic autoantibodies, double-stranded DNA, and small nuclear ribonucleoprotein Sm) were all negative. A direct Coombs test result was also negative. In addition, hemoglobin electrophoresis was normal, eliminating the possibility of sickle cell anemia.

During the current admission, another series of tests is performed. The results are as follows:

  • Hemoglobin level: 6.5 g/dL

  • Mean corpuscular volume: 64.5 μm3

  • White blood cell count: 4.2 × 103 cells/μL

  • Platelet count: 405 × 103 cells/μL

  • Neutrophil count: 1.6 × 109 cells/L

  • Lymphocyte count: 2.1 × 109 cells/L

  • Eosinophil count: 1 × 109 cells/L

  • Ferritin level: 9 ng/mL

  • C-reactive protein level: <5 mg/L

Tests for autoantibodies (immunoglobulin), celiac serology, liver function, hemoglobin electrophoresis, vitamin B12, and folate all return normal results.

Colonoscopy is performed and is normal to the terminal ileum, with no underlying cause of anemia established. The patient undergoes a repeat endoscopy (having already had a normal endoscopy 1 year earlier). The appearance of the esophagus and duodenum is unremarkable. Patches of the gastric mucosa however, have an odd, nodular appearance (Figure 1). The area is biopsied; the histology is shown here (Figure 2).

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