Swelling, Pain, and Pancytopenia: An Elusive Diagnosis

Treatment Approach

1. Myositis and cytopenias: The patient was placed on methylprednisolone 12 mg twice daily. This lowish dose was chosen initially because of the bowel disorder and my concern about infection. After 1 week on this dose, muscle weakness and tenderness, muscle enzyme tests, and edema cleared completely. Also the patient's white blood cell count rose to 8500, platelets to 220,000, and hemoglobin to 12.

2. Bacterial overgrowth: The patient was placed on rifaximin for the treatment of bacterial overgrowth.

Take-Home Messages

1. Wrong diagnoses for 3 years -- Despite being seen in the "best" institutions, this woman's diagnosis remained elusive. Because of her thin habitus (a family trait), her bone marrow findings were attributed to an eating disorder, her abdominal problem to irritable bowel syndrome, and her muscle symptoms to fibromyalgia! You owe it to the patient to address her problems anew and with a fresh approach. Don't be dissuaded by "experts" who are fallible.

She noted that her muscle, edema, abdominal, and blood count abnormalities began at the same time, a clue to the fact that they were all connected (ie, a systemic disorder rather than a plethora of multiple disorders, some of which were considered psychogenic). You must review all records even though the best people in the world have already seen and passed on them.

Remember, patients "don't read the books," so even though some parts of the problem don't jive with others, it is a total story that should be considered.

2. Autoimmune disorders -- While most autoimmune disorders of this degree and chronicity will be associated with abnormal serologies, this is not true 100% of the time. You have to keep an open mind and trust yourhistory, physical, and review of the records.

3. You are the captain of the ship -- You need to keep your consultants up to date and on the same page so things don't fall through the cracks.

4. You must communicate with and listen to your patient -- This patient was "branded" from the word go. Had someone actually listened, she would not have had to go through 3 years of test after test without an answer.

Cite this: Stephen Paget. Swelling, Pain, and Pancytopenia: An Elusive Diagnosis - Medscape - Apr 04, 2011.

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