What Is Erythromelalgia?

Imagine you wake up and your hands and feet feel burning hot and getting red. This is what people with erythromyalgia experience.

Erythromelalgia is a rare and highly complex neurovascular disorder characterized by episodes of severe burning pain and inflammation in your extremities.

In this article, you’ll learn about erythromalgia, its symptoms, causes, diagnosis, and treatment. 

Definition and origin of erythromelalgia

The word “Erythromelalgia” is derived from three Greek words: erythros for “red”, melos for “limbs”, and algos for “pain”. Initially, it was named “Mitchell’s disease” after the name of the scientist Silas Weir Mitchelle, who first described it in 1878.¹

Erythromelalgia, also known as red neuralgia, is a rare type of peripheral pain syndrome caused by constriction of blood vessels and nerve fibre dysfunction in the skin and limbs. It usually affects the lower limbs (feet) and the hands. The symptoms typically come and go, with flares brought on by heat, exercise, or prolonged standing.²

Symptoms of erythromelalgia

During erythromelalgia attacks, the affected skin reddens and heats up. This can range from a faint pink to a deep flushed crimson. Patients describe severe burning, throbbing, or searing pain, which may feel like a burning match has been applied to the skin.³ The degree of pain is often out of proportion to visible skin changes. Attacks can last from a few minutes to several hours. Swelling and cool, bluish discolouration of the limbs may also occur after prolonged attacks.

Triggers of erythromelalgia

Anything that raises the body's core temperature or local temperature in the extremities can trigger or worsen symptoms of erythromelalgia.

Certain triggers are:

• Heat - exposure to high temperatures, hot showers, or saunas
• Exercise - high-intensity exercise leads to increased blood flow and worsens the symptoms
• Stress - emotional stress or anxiety
• Certain foods and drinks- spicy foods, caffeine, alcohol
• Medications - drugs that affect blood circulation
• Infections - HIV/AIDS and other viral infections

When a person with erythromelalgia is exposed to a trigger, the blood vessels in the affected area dilate, causing redness, warmth, and pain. The exact mechanism by which this occurs is not fully understood. 

Types and causes of erythromelalgia

Primary erythromelalgia

This is the most common type of erythromelalgia and does not require an underlying medical condition. The cause of primary erythromelalgia is unknown, but it is thought to be due to genetic factors or sodium channel mutations.⁴

• Genetic factors: Evidence shows that genes play a big role in causing erythromelalgia. It often runs in families, suggesting a genetic link.⁴
• Sodium channel mutations: Mutations in genes related to sodium channels significantly contribute to the development of erythromelalgia by increasing the body's sensations of heat and pain. Research reported that mutations in the SCN9A gene, which encodes a specific subtype of voltage-gated sodium channel known as Nav1.7, have been associated with erythromelalgia.⁵ This genetic alteration disrupts the normal functioning of sodium channels, leading to abnormal nerve signalling that intensifies the perception of higher temperatures and painful stimuli.

Secondary erythromelalgia

This type of erythromelalgia occurs in association with another medical condition.⁶ Some of the most common underlying conditions associated with secondary erythromelalgia include:

• Peripheral neuropathy: This is damage to the nerves that control sensation and movement in the arms and legs. Peripheral neuropathy can be caused by several factors, including diabetes, alcoholism, and certain medications.
• Myeloproliferative disorders: These are blood disorders that cause an overproduction of blood cells. Myeloproliferative disorders can include polycythemia vera, essential thrombocythemia, and myelofibrosis.⁷
• Autoimmune diseases: These are conditions in which the body's immune system attacks its tissues. Some of the autoimmune diseases that have been associated with erythromelalgia include multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus (SLE).⁸
• Medications: Certain medications, such as certain chemotherapy drugs, can also cause erythromelalgia.⁹
• Infections: Some infections, such as HIV/AIDS, can also trigger episodes of erythromelalgia.²

Diagnosing erythromelalgia

There is no single test that can definitively diagnose erythromelalgia. The diagnosis is typically made based on a thorough clinical evaluation, which includes:

• A detailed medical history
• Physical exam
• Sometimes, laboratory tests and imaging studies

The key aspects of the medical history include:

• The episodic nature of the pain
• It's quality and severity.
• It's associated with heat or activity.
• It's relief with cooling.

The physical exam will focus on the patient's extremities, looking for:

• Redness
• Warmth
• Swelling
• Decreased sensation or pulse

Laboratory tests may be used to rule out other conditions that can cause symptoms similar to erythromelalgia.

Imaging studies may be used to rule out other conditions that can cause similar symptoms.

Other tests that may be used to diagnose erythromelalgia include:

• Infrared thermography
• Skin biopsy
• Genetic testing

If you are experiencing symptoms of erythromelalgia, it is important to see a doctor for diagnosis and treatment.

Treatment for erythromelalgia: 

As there is no cure for erythromelalgia, treatment focuses on symptom management. Key approaches include:

Lifestyle modifications

Lifestyle modifications are the foundation of erythromelalgia management. By avoiding triggers that can cause flares, such as heat, activity, and stress, you can help reduce the frequency and severity of your symptoms.¹⁰ Other lifestyle modifications that can be helpful include:

• Staying hydrated: Drinking plenty of fluids throughout the day can help to keep your body temperature down and prevent overheating.
• Wearing loose-fitting clothing: Loose-fitting clothing will help to reduce friction and heat buildup, which can trigger flares.
• Taking cold baths or showers: Taking cold baths or showers can help to cool down your body and relieve symptoms.
• Using fans: Using fans can help to circulate air and cool down your body.
• Taking breaks: If you are feeling overwhelmed or stressed, take some time to rest and relax. This will help to reduce your risk of a flare.
• Avoiding heat: Heat can trigger erythromelalgia flares. Avoid hot environments, hot baths or showers, and wear tight-fitting clothing.
• Getting regular exercise: Regular exercise can help improve circulation and reduce stress, both of which can trigger erythromelalgia flares. However, avoid exercising to the point of exhaustion, as this can worsen symptoms.

Medications

Several medications can be used to treat erythromelalgia.¹⁰ Some of the most common medications include:

• Sodium channel blockers
• Pain modulators
• Vasodilators
• Calcium channel blockers
• Neuropathic pain drugs 

Medical procedures

Many medical procedures can treat erythromelalgia. Some of the most common procedures include:

• Sympathetic nerve blocks: Sympathetic nerve blocks involve injecting a local anaesthetic or other medication near the sympathetic nerves that control blood flow to the extremities. This can help to temporarily reduce pain and inflammation.¹¹
• Spinal cord stimulation: Spinal cord stimulation involves implanting a small device in the spinal cord that delivers electrical pulses to the surrounding nerves. This can help to reduce pain and improve function.¹²
• IV lidocaine: IV lidocaine is a medication that can be given through a vein to temporarily reduce pain and inflammation.¹³

Surgery

In severe cases of erythromelalgia that has not responded to other treatments, surgery may be an option. One type of surgery that may be considered is sympathectomy. Sympathectomy involves cutting the sympathetic nerves that control blood flow to the extremities. This can help to permanently reduce pain and inflammation.¹⁴

Alternative therapies

Several alternative therapies may be helpful for erythromelalgia. Some of the most common alternative therapies include:

• Acupuncture: Acupuncture is a traditional Chinese medicine treatment that involves inserting needles into specific points on the body. Acupuncture may help to reduce pain and inflammation.¹⁵
• Biofeedback: Biofeedback is a technique that teaches you to control your body's functions, such as heart rate and blood pressure. Biofeedback may help to reduce pain and improve function.¹⁶

Multidisciplinary pain management:

Multidisciplinary pain management is an approach that involves a team of healthcare professionals working together to create a personalised treatment plan for you. This team may include doctors, nurses, physical therapists, psychologists, and other healthcare providers. Multidisciplinary pain management can be an effective way to manage erythromelalgia and improve your quality of life.

Conclusion

Living with erythromelalgia can be a real challenge, but the good news is that there are ways to improve your situation. Think of it as solving a puzzle: you have different pieces that can help make things better. These pieces include avoiding things that make your symptoms worse, changing your lifestyle a bit, taking medicines, and trying out special treatments. Just like each puzzle piece is important, each of these strategies plays a role in managing erythromelalgia.

Doctors and scientists are still learning about erythromelalgia and they're finding better ways to help people like you. It's a bit like exploring a new territory on a map, discoveries are being made that can make a big difference. By talking to your doctor, and explaining how you feel and what hurts, you're taking a step towards finding ways to feel better.

Remember, you're not on this journey alone. There's a whole community of people who get what you're going through and are ready to support you. As you learn more about erythromelalgia and share your experiences, you're helping everyone understand this condition better. Together, we can make the road a little easier for everyone dealing with erythromelalgia.