Ruddy Complexion: Associated Medical Conditions
Polycythemia vera is the classic medical condition associated with a ruddy (plethoric) complexion, caused by increased red blood cell mass leading to characteristic facial redness and flushing. 1, 2
Primary Diagnosis: Polycythemia Vera
Polycythemia vera (PV) presents with a ruddy, plethoric facial appearance due to elevated hemoglobin and hematocrit, with diagnostic thresholds of hemoglobin >16.5 g/dL in men or >16.0 g/dL in women. 1, 3
Key Clinical Features to Recognize
- Splenomegaly occurs in 36% of patients and may present with abdominal discomfort 1
- Pruritus affects approximately 33-40% of patients, characteristically triggered by contact with water at any temperature (aquagenic pruritus) 1, 4
- Erythromelalgia presents in 5.3% of cases as painful redness and burning of the extremities 1
- Hypertension is common in patients with PV 2
- Transient visual changes occur in 14% of patients 1
Diagnostic Workup Algorithm
Step 1: Confirm erythrocytosis with complete blood count showing hemoglobin >16.5 g/dL (men) or >16.0 g/dL (women), often accompanied by thrombocytosis (53%) and leukocytosis (49%). 1
Step 2: Test for JAK2 mutation, which is present in >95% of PV cases and distinguishes it from secondary causes of erythrocytosis such as tobacco smoking or sleep apnea. 1, 3
Step 3: Obtain bone marrow biopsy for morphologic confirmation, which typically shows hypercellularity involving all three cell lines and absent iron stores. 2, 3
Step 4: Exclude secondary polycythemia by ruling out tissue hypoxia, inappropriate erythropoietin production, or spurious polycythemia (elevated hematocrit with normal red cell mass). 2
Critical Thrombotic Risk Assessment
PV carries significant thrombotic risk: 16% of patients experience arterial thrombosis and 7% have venous thrombotic events (including unusual sites like splanchnic veins) prior to or at diagnosis. 1
Risk Stratification
High-risk patients include those aged >60 years or with prior thrombosis history. 1, 3
Low-risk patients are those aged ≤60 years without thrombosis history. 1, 3
Mandatory Treatment for All Patients
All patients with PV require therapeutic phlebotomy to maintain hematocrit <45% combined with once-daily or twice-daily aspirin 81 mg (if no contraindications). 1, 5, 3
Cytoreductive Therapy Indications
Hydroxyurea is the first-line cytoreductive agent for high-risk patients, those with persistent symptoms, or those requiring frequent phlebotomy. 1, 5, 3
Pegylated interferon-α is the second-line option, particularly in younger patients or those intolerant to hydroxyurea. 5, 3
Ruxolitinib (JAK2 inhibitor) is reserved for severe protracted pruritus or marked splenomegaly unresponsive to first-line agents. 5, 3
Prognosis and Long-Term Complications
Median survival ranges from 14.1 to 27.6 years, with patients aged ≤40 years having a median survival of approximately 37 years. 1, 3
Disease transformation risks at 10-20 years include myelofibrosis (12.7%-16%) and acute myeloid leukemia (6.8%-4%). 1, 3
Thrombotic complications are more common with phlebotomy-alone therapy, particularly in older patients and those with previous thrombotic disease, justifying cytoreductive therapy in high-risk cases. 2, 5
Common Pitfalls to Avoid
Never dismiss a ruddy complexion as benign facial flushing—always measure hemoglobin/hematocrit to exclude polycythemia vera, as untreated disease carries substantial thrombotic morbidity and mortality. 1, 2
Do not target hematocrit levels >45%, as this significantly increases thrombotic risk; strict phlebotomy adherence to maintain hematocrit <45% is mandatory. 1, 3
Avoid myelosuppressive therapy in low-risk patients due to increased risk of secondary malignancies, particularly acute leukemia; reserve cytoreduction for high-risk disease. 2, 5
Recognize that extreme thrombocytosis (platelet count ≥1000 × 10⁹/L) paradoxically increases bleeding risk through acquired von Willebrand disease, requiring careful antiplatelet management. 1