Erythromelalgia-like Symptoms Severely Impacting Quality of Life in Active 37-Year-Old Woman

Case at a Glance

A 37-year-old active woman from Colorado presents with a 6-year history of episodic red, hot, pulsing feet triggered by heat exposure, physical activity, and prolonged standing. The condition has progressively worsened, severely limiting her outdoor activities and social life. She also experiences blue, cold feet when sitting for extended periods.

Patient's Story

The patient was previously very active, enjoying weekly hiking, farmers markets, outdoor concerts, and baseball games with her husband. Since symptom onset in summer 2019, she has been forced to abandon most outdoor activities. She cannot tolerate temperatures above 75°F and experiences symptoms after just minutes of sun exposure or minimal activity on hot days. By 2023, she completely stopped outdoor activities and converted her basement into a home gym. She describes significant emotional distress from declining social invitations and her husband attending events alone. The patient reports missing 'spending time outside' and feeling frustrated by her 'stupid feet.'

Initial Assessment

Primary symptoms include hot, red, pulsing feet triggered by physical activity, heat exposure, or prolonged standing, occurring within minutes in direct sunlight or temperatures above 75°F. Symptoms are most intense in the toes, less in mid-foot, with heels and ankles unaffected. Secondary symptoms include blue, cold feet when sitting for just 10 minutes at her desk job, and purple, heavy sensation feet after exercise. Elevation in cool environments resolves symptoms in 30-45 minutes. The patient maintains excellent overall health with regular exercise, vegetarian diet, and no smoking or excessive alcohol use.

The Diagnostic Journey

Initial evaluation by primary care physician suggested Raynaud's disease, but this was ruled out due to absence of hand involvement and lack of characteristic pale white color changes. ANA testing was negative, ruling out common autoimmune conditions. Recent comprehensive metabolic panel showed slightly elevated hematocrit (48.1%) and low-normal RDW (11.6%), with slightly low total CO2 (19 mmol/L). All other laboratory values including CBC, kidney function, liver function, and thyroid studies were within normal limits. The patient has stable hypothyroidism and ADHD, both well-controlled with medication.

Final Diagnosis

Clinical presentation strongly suggests erythromelalgia, a rare neurovascular disorder characterized by episodic burning pain and erythema of the extremities triggered by heat and exercise. The additional finding of cyanotic feet when sitting suggests possible secondary vascular insufficiency or polycythemia vera given the elevated hematocrit.

Treatment Plan

Immediate management focuses on trigger avoidance and symptom relief. Patient education regarding erythromelalgia and its triggers. Referral to rheumatology for evaluation of underlying inflammatory or autoimmune conditions. Referral to dermatology for specialized erythromelalgia management and consideration of topical treatments. Hematology consultation recommended to evaluate elevated hematocrit and rule out polycythemia vera. Consider trial of aspirin for potential antiplatelet effects. Lifestyle modifications to continue avoiding heat triggers while exploring cooling strategies for symptom management.

Outcome and Follow-up

Patient scheduled for dermatology consultation with photographic documentation of symptomatic episodes. Rheumatology and hematology referrals pending. Patient counseled on the chronic nature of erythromelalgia but reassured that various treatment options exist. Follow-up planned in 4-6 weeks to assess specialist recommendations and treatment response. Long-term goals include symptom control sufficient to resume some outdoor activities and improve quality of life.