Aplastic Anemia
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Department of Medicine, Oregon Health & Science University, Portland, OR

Question 1 of 6

A 42-year-old woman presents for evaluation of swallowing difficulties. She reports that over the past 8 to 9 months she has had progressive difficulty swallowing food and pills, with food “getting stuck” in the center of her chest. She has lost weight, about 15% of her body weight, over the past year, but has no fevers or night sweats. Review of systems is notable for more frequent nose bleeding. She went into menopause 2 years ago.

Family history is notable for her mother dying from myelodysplastic syndrome (MDS) at age 58 years, a maternal aunt and cousin with lung disease, and her maternal grandfather dying from cirrhosis of the liver.

Complete blood count (CBC) is notable for a white blood cell (WBC) count of 2200/µL with a differential including 34% neutrophils, 62% lymphocytes, and 4% monocytes. Hemoglobin is 9.4 g/dL, and platelet count is 43 × 103/µL. Blood chemistry results are normal except for a mildly elevated alkaline phosphatase concentration.

The patient is referred to gastroenterology, and viral testing and a bone marrow biopsy with karyotype, fluorescence in situ hybridization (FISH) MDS/acute myeloid leukemia (AML) panel, and molecular testing are ordered.

What other testing would you perform?

Blood breakage testing to evaluate for Fanconi anemia

Erythrocyte adenosine deaminase activity to evaluate for Diamond-Blackfan anemia

Genetic testing for SBDS gene mutation to evaluate for Shwachman-Diamond syndrome

Telomere length testing to evaluate for telomere maintenance defects

Hospital Physician: Hematology/Oncology. 2019 January;14(1)

This quiz is not accredited for CME.

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