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Failure to confirm diagnosis of polycythemia vera


In November 2007, a 40-year-old man was referred to an internal medicine physician by his primary care physician. The patient reported feeling weak and tired.


Physician action

The internal medicine physician noted that the patient had a high white blood cell count, high hemoglobin, and high hematocrit. It was her impression that these values were due to a myeloproliferative disorder such as polycythemia vera (PV). 

PV is a slow-growing type of blood cancer in which the bone marrow makes too many blood cells. It may result in overproduction of white blood cells and platelets. Treatment reduces the number of cells and decreases blood volume via phlebotomy. 

The physician intended to conduct a JAK2 mutation study of the patient’s blood to confirm PV, but there was no documentation that this study was performed. The patient was diagnosed with PV approximately two months later. 

The physician continued to treat the patient for the next five years. During that time, the patient’s primary complaint was feeling tired and weak. There were also reports of anxiety, dizziness, nausea, vomiting, shortness of breath, abdominal pain, headaches, muscle pain, bone pain, and leg pain. 

The physician routinely ordered lab work and phlebotomy to reduce the number of cells and decrease blood volume. Over this five-year period, lab work was conducted approximately 100 times and phlebotomy performed approximately 50 times.

In July 2012, the patient went to a hospital ED with complaints of intense stomach pain. The on-call physician referred the patient to an oncologist, who ordered a JAK2 mutation study, arterial blood gas test, erythropoietin level, and iron studies. The oncologist also requested the patient’s records from the internal medicine physician. 

The JAK2 mutation study was negative, ruling out PV. Instead, the patient was diagnosed with iron deficiency anemia secondary to multiple phlebotomies and leukocytosis of unknown etiology. 



The patient filed a lawsuit against the internal medicine physician alleging: 

  • failure to properly diagnose his condition; 
  • failure to properly interpret blood test results; and
  • failure to obtain JAK2 mutation test to rule out PV.

The patient further alleged that he suffered mental anguish and anxiety because he believed he had a terminal illness. He also underwent five years of unnecessary phlebotomies.


Legal implications

Two internal medicine physicians consulted with TMLT to provide their opinions of the case. Both consultants were critical of the lack of testing to confirm the diagnosis of PV. They each stressed that the internal medicine physician should have obtained a thorough history and performed a detailed examination. At a minimum, the JAK2 test should have been completed to confirm the PV diagnosis. A bone marrow biopsy, erythropoietin level, and endogenous erythroid colony formation in vitro testing could also have been performed. 

The consultants felt that the lack of proper testing to confirm the PV diagnosis and then performing ongoing treatment for an unconfirmed, terminal condition fell below the standard of care.



The case was settled on behalf of the internal medicine physician. The main weakness of the case was the lack of a positive JAK2 test to confirm the diagnosis of PV. The physician was also using a billing code for PV that was damaging to his case.


Risk management considerations

Two risk management issues can be identified in this claim. Documenting the patient care and treatment rationale and decision-making are required for good medical records. The missing piece in this patient’s care was the validation for the diagnosis of PV, due to the failure to follow through with the JAK2 mutation study. Had the physician ordered the study, the patient would have been spared five years of unnecessary treatment and emotional distress. 

Internal medicine physicians face a multitude of complex patient conditions, and knowing when to refer is a key component of their practice. An early referral to a hematologist/oncologist may have made a difference in ruling out PV and identifying the patient’s anemia.