Swelling, Pain, and Pancytopenia: An Elusive Diagnosis

Stephen Paget, MD


April 04, 2011


A 26-year-old woman presents for an evaluation and better definition of a 3-year history of progressive abdominal pain and distension, fatigue, pancytopenia, leg swelling, and pain.

Past Medical History

The patient has already had an extensive work-up at many of the best institutions in the country, but no specific diagnosis has been made, nor has any therapy been recommended.

Pertinent features of the evaluation follow:

  1. Physical examination previously demonstrated normal vital signs, no weight loss, no synovitis, mild edema of the legs up to the mid calves, abdominal distention and diffuse direct tenderness, normal muscle strength, and no muscle tenderness.

  2. Laboratory tests included: white count 1900 with an absolute neutrophil count of 800; hemoglobin 10.5; platelet count 140,000; normal renal and liver function tests; and normal CK, amylase, and lipase. ESR was 20 and CRP was 1.0.

  3. Two bone marrow analyses showed normal marrow elements but increased scarring demonstrated by fibrillar material with negative stains for amyloid. This type of abnormality is thought to be related to ischemia and has been found in patients with cancer, malnutrition, the antiphospholipid syndrome, and, rarely, autoimmune disorders.

  4. Abdominal evaluation has included a normal upper and lower endoscopy, appropriate celiac serologies and bowel biopsy, Whipple disease assessment, and CAT scan of the abdomen and pelvis with oral contrast.

  5. Normal renal function, albumin, 24-hour protein, and renal sonogram.

  6. Normal cardiac and pulmonary testing including an EKG, echocardiogram, chest x-ray, and chest CT with contrast.

  7. Negative autoimmune serologies, including ANA and antibodies to dsDNA, Sm, RNP, SSA, SSB, SCL-70, and Jo1.

  8. Normal serum protein electrophoresis, immunoelectrophoresis, and urine for Bence Jones protein.

  9. Negative infection workup, including tests for EBV, CMV, toxoplasmosis, hepatitis A, B and C, HIV, septicemia, TB, fungal disease, Borrelia, ehrlichiosis, babesiosis, leptospirosis, and Lyme disease.


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