History

Your medical student presents the patient’s history to you as follows:

“This is a 34 year-old transgender man who was noted to have an elevated hematocrit (Hct) about 6 months ago. He denies any prior history of polycythemia or other hematological disorder. He denies any symptoms of hyperviscosity, including fatigue, change in vision, headache or shortness of breath. He has no active medical problems. He has undergone bilateral mastectomy and vulvoplasty. His family history is negative for polycythemia or other hematological disorders. He smokes about 3 cigarettes per day and drinks socially. His only medication is testosterone. He has no known allergies to medicines. His review of systems is negative.”

Are you happy with this presentation?

What is missing?

Let’s consider the differential diagnosis of polycythemia according to several classification schemes:

Absolute vs. apparent:
- Absolute – elevated red cell mass
- Apparent (relative):
  - Contracted plasma volume:
    - Vomiting
    - Diarrhea
    - Diuretics
    - Burns
    - Fever
  - Gaïsbock syndrome – associated with obesity, heavy smoking, alcohol, and hypertension.
Congenital vs acquired:
- Congenital
- Acquired
Primary vs. secondary:
- Primary:
  - Congenital mutations in erythropoietin receptor gene (EPOR)
  - Polycythemia vera
- Secondary:
  - Congenital:
    - Changes in hemoglobin oxygen affinity.
    - Mutations in oxygen sensing/hypoxia-inducible factor (HIF) signaling pathway.
  - Acquired:
    - Adaptive erythropoietin production in response to chronic or intermittent hypoxia:
      - Pulmonary disease
      - Heart disease
      - Sleep apnea
      - High altitude
    - Abnormal erythropoietin (EPO) production:
      - Androgens
      - Steroids
      - EPO-producing tumors:
        Renal carcinomas
        Cerebellar hemangioblastomas
        Adrenal carcinomas
        Adrenal adenomas
        Hepatomas
        Uterine leiomyomas
      - Renal disorders
      - Post-renal transplantation

Now let’s convert the differential diagnosis into table format and consider questions to ask on history:

Cause	History
Apparent polycythemia	Do you have a history of vomiting, diarrhea, or use of diuretics?
Primary
Congenital	Do you have a personal or family history of polycythemia?
Polycythemia vera	Do you have itchiness, especially after a shower? Do you have a history or symptoms of venous or arterial thrombosis? Do you have a history of bleeding or easy bruising?
Acquired
Pulmonary disease	Do you have a history of lung disorders? Are you a smoker? Do you use supplemental oxygen?
Heart disease	Do you have a history of heart disorders?
Sleep apnea	Do you snore during the night? Do you feel excessively tired during the day?
Androgens	Do you take testosterone supplements? How much? How often?
Steroids	Do you take prednisone or other types of steroids?
Erythropoietin-producing tumors	Do have any history of liver or adrenal disorders?
Renal disorders	Do have any history of kidney problems, such as renal cysts?

Based on the differential diagnosis, you might guide your medical student to reorganize their presentation as follows (with edits in red and comments in green):

“This is a 34 year-old transgender man who was noted to have an elevated hematocrit (Hct) about 6 months ago. He denies any prior history of polycythemia or other hematological disorder. He denies any symptoms of hyperviscosity, including fatigue, change in vision, headache or shortness of breath (these were good questions to ask regarding polycythemia-associated hyperviscosity). There is no recent history of vomiting, diarrhea or diuretic use (apropos of relative polycythemia). He denies pruritis, easy bruising, bleeding or history of clots (this covers symptoms related to polycythemia vera). He has no history or symptoms of cardiopulmonary disease or renal disorders. He has never been told that he snores at night. He has been taking testosterone 300 mcg s.c. weekly for the last 8 months (these last sentences cover symptoms related to some of the more common causes of secondary polycythemia). He has no active medical problems. He has undergone bilateral mastectomy and vulvoplasty. His family history is negative for polycythemia or other hematological disorders. He smokes about 3 cigarettes per day and drinks socially. As I mentioned earlier, he is taking testosterone. He is not on any other medications. He has no known allergies to medicines. His review of systems is negative.”

Better, right? And adding these various negatives and positives adds little time to the overall presentation. It’s really just a matter of reorganization.

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