Introduction & Background of Erythromelalgia

Erythromelalgia (EM), often called “Man on Fire Syndrome,” is a rare and complex neurological disorder characterized by intense, burning pain, pronounced redness (erythema), and increased skin temperature, primarily in the hands and feet. The name itself is derived from Greek words: erythros (red), melos (limb), and algos (pain).

Episodes are often triggered by an increase in body temperature, mild physical activity, or warm weather, and are typically relieved by cooling. The condition can be primary (often genetic) or secondary to other medical conditions like polycythemia vera, autoimmune diseases, or neuropathy. Living with EM is challenging, as the severe pain can be debilitating, significantly impacting daily activities, sleep, and quality of life.

Causes of Erythromelalgia

The exact cause is not fully understood, but it is primarily linked to dysfunction in the blood vessels and nerves that control their dilation and constriction.

• Primary (Inherited) Erythromelalgia: Caused by genetic mutations, most commonly in the SCN9A gene. This gene provides instructions for making a sodium channel crucial for pain-signaling neurons. The mutation makes these neurons hyperexcitable, leading to spontaneous and excessive firing, which causes burning pain, vasodilation (widening of blood vessels), and redness.
• Secondary Erythromelalgia: Arises as a symptom of an underlying medical condition. Common associations include:
  • Myeloproliferative Disorders: Polycythemia vera and essential thrombocythemia.
  • Autoimmune Diseases: Lupus, multiple sclerosis, and Sjögren’s syndrome.
  • Neuropathies: Small fiber neuropathy, diabetes mellitus.
  • Infections or Toxins.
  • Certain Medications.

Indications of Erythromelalgia

“Indications” in this context refer to the signs that point toward a diagnosis of EM. A doctor will suspect EM based on the classic clinical presentation:

• The Classic Triad: Burning pain, redness, and warmth in the extremities.
• Symptom Triggers: Symptoms are consistently provoked by warmth, exercise, or dependency of the limbs (e.g., letting feet hang down).
• Symptom Relief: Symptoms are consistently alleviated by cooling (e.g., immersing feet in ice water—a practice that carries its own risks).
• Bilateral Involvement: Symptoms usually affect both feet, both hands, or all four limbs symmetrically.

Symptoms of Erythromelalgia

Symptoms are episodic (flare-ups) and can vary in frequency and duration.

• Predominant Symptoms:
  • Intense Burning Pain: Often described as scalding, searing, or throbbing.
  • Visible Redness (Erythema): The skin becomes deep red or purple.
  • Increased Skin Temperature: The affected area feels hot to the touch.
• Associated Symptoms:
  • Swelling (edema) during flares.
  • Sweating in the affected areas.
  • A mottled appearance to the skin after a flare subsides.
  • In severe, chronic cases, skin complications like ulcers or infections can occur, often from aggressive cooling.

Prevention Strategies of Erythromelalgia

While flares cannot always be prevented, they can often be managed and reduced by avoiding triggers.

• Temperature Control: Stay in cool, air-conditioned environments during warm weather.
• Avoid Triggers: Reduce or avoid alcohol, spicy foods, and excessive physical exertion.
• Wear Appropriate Clothing: Use breathable, moisture-wicking fabrics, and avoid tight-fitting shoes and gloves.
• Elevate Limbs: This can help reduce pressure and improve blood flow.
• Manage Stress: Stress can be a trigger for some; techniques like meditation can be helpful.
• Treat Underlying Conditions: For secondary EM, effectively managing the primary illness (e.g., polycythemia vera) is the best prevention.

Myths and Facts About Erythromelalgia

Treatments and Therapy

Treatment is highly individualized and focuses on managing symptoms and treating any underlying cause.

Medication-Based Treatments

• Sodium Channel Blockers: Lidocaine (IV or topical) and mexiletine.
• SNRIs/SSRIs: Duloxetine and venlafaxine can help modulate pain signals.
• Gabapentinoids: Gabapentin and pregabalin are often used for neuropathic pain.
• Prostaglandins: Misoprostol can help constrict blood vessels.
• Aspirin: Particularly effective for EM associated with myeloproliferative disorders.
• Topical Creams: Compound creams containing ketamine, amitriptyline, and/or lidocaine.

Surgical Treatments

Surgery is rarely used and typically only considered for severe, localized, and treatment-resistant cases (e.g., sympathectomy to cut nerves controlling blood vessels), but outcomes are unpredictable and not always favorable.

Physical Therapy and Rehabilitation

Focuses on gentle exercises to maintain mobility, improve circulation without triggering flares, and manage pain through techniques like desensitization therapy.

Lifestyle and Behavioral Interventions

The cornerstone of management. Includes trigger avoidance, temperature regulation, limb elevation, and stress management.

Alternative and Complementary Medicine

• Cognitive Behavioral Therapy (CBT): To help cope with chronic pain.
• Acupuncture: Some patients report reduced pain and flare frequency.
• Alpha Lipoic Acid & Magnesium: Supplements some find helpful, though evidence is anecdotal.
• Biofeedback: To learn control over skin temperature.

Psychotherapy and Counseling

Essential for addressing the depression, anxiety, and social isolation that often accompany chronic, painful conditions.

Immunizations and Vaccines

There is no specific link. However, staying up-to-date on vaccines is part of general health maintenance, especially for those on immunosuppressant medications.

Stem Cell Therapy

Not a standard or proven treatment for EM. It remains highly experimental and is not recommended outside of clinical trials.

Gene Therapy

For the inherited form of EM, gene therapy is a topic of research (e.g., using CRISPR to correct the SCN9A mutation) but is not yet available as a clinical treatment.

Top 20 FAQ with Answer on Erythromelalgia

1. Is erythromelalgia a life-threatening condition?
While EM itself is not typically fatal, the pain can be debilitating, and complications from skin damage (e.g., infection) or the underlying cause (e.g., blood cancer) can be serious.

2. Is there a cure for EM?
There is currently no cure for primary EM. The goal of treatment is to manage symptoms and improve quality of life. Secondary EM may improve if the underlying condition is successfully treated.

3. What is the life expectancy of someone with EM?
EM does not directly affect life expectancy. Prognosis depends on whether it’s primary or secondary. For secondary EM, the outlook is tied to the underlying disease.

4. What should I do during an EM flare?
Cool the area with a fan or by immersing in cool (not ice-cold) water. Elevate the limbs. Avoid rubbing or massaging the area. Use prescribed rescue medications if available.

5. Why is ice water dangerous for EM?
Prolonged immersion in ice water can cause frostbite, skin breakdown, non-healing ulcers, and gangrene. It can also lead to a “rebound effect,” making the next flare even worse.

6. What type of doctor treats erythromelalgia?
Start with a dermatologist or neurologist. Often, a pain specialist or a neurologist with expertise in autonomic disorders or small fiber neuropathy is most helpful.

7. Is EM an autoimmune disease?
It is not classified as a classic autoimmune disease, but it is frequently associated with autoimmune conditions, suggesting a possible immune system component in some cases.

8. Can EM affect other parts of the body?
Yes, though hands and feet are most common. It can also affect the face, ears, and knees.

9. Is EM a form of neuropathy?
Yes, it is widely considered a type of small fiber neuropathy, where the small nerve fibers that control blood flow and sensation are dysfunctional.

10. Can children get EM?
Yes. The primary genetic form often has its onset in childhood.

11. How is EM diagnosed?
There is no single test. Diagnosis is based on clinical history and physical exam. Tests like skin biopsies (for small fiber neuropathy), genetic testing, and blood work are used to rule out other causes and identify secondary forms.

12. Can pregnancy affect EM?
Pregnancy can be challenging, as increased body temperature and blood volume can trigger flares. Care must be coordinated with a high-risk obstetrician.

13. What shoes are best for EM?
Open-toed sandals, shoes with a wide toe box, and those made from breathable materials like mesh or leather. Avoid synthetic materials and tight fits.

14. Does exercise make EM worse?
It can, as it raises body temperature. Low-impact exercises in a cool environment (like swimming) are best. Short, frequent bouts with cooling breaks are recommended.

15. Can stress trigger a flare?
Yes, emotional stress is a common trigger for many people with EM.

16. Are there any foods I should avoid?
Spicy foods, caffeine, and alcohol are common triggers for some individuals.

17. What is the difference between Raynaud’s and EM?
They are opposites. Raynaud’s causes vasoconstriction (cold, white/blue fingers/toes), while EM causes vasodilation (hot, red, burning limbs). Some people have both conditions.

18. Is EM progressive?
It can be. For some, symptoms remain stable; for others, they may worsen over time or spread to new areas.

19. Where can I find support?
Organizations like The Erythromelalgia Association (TEA) provide invaluable resources, support networks, and the latest research updates.

20. Is there hope for new treatments?
Yes. Research into sodium channels, new pain medications, and even gene therapy is ongoing, offering hope for more effective future treatments.

Conclusion

Erythromelalgia is a challenging, often misunderstood condition that imposes a significant burden on those who live with it. Characterized by the triad of burning pain, redness, and heat in the extremities, its management requires a multifaceted and patient-centered approach. While there is no cure, a combination of accurate diagnosis, medication, vigilant lifestyle adaptations, and psychological support can provide substantial relief and help individuals regain a sense of control over their lives. Continued research and increased awareness are crucial to improving outcomes and quality of life for the EM community.