How is Erythromelalgia diagnosed?

Diagnosis of Erythromelalgia

Erythromelalgia is a rare neurovascular disorder characterized by episodes of intense burning pain, redness, and heat in the extremities, typically the hands and feet. It is important to diagnose erythromelalgia accurately to provide appropriate treatment and management strategies for affected individuals. The diagnosis of erythromelalgia involves a comprehensive evaluation of the patient's medical history, clinical presentation, and specific diagnostic tests.

Medical History

The first step in diagnosing erythromelalgia is obtaining a detailed medical history from the patient. The healthcare provider will inquire about the patient's symptoms, including the frequency, duration, and triggers of episodes. They will also ask about any underlying medical conditions, medications, or family history of similar symptoms. A thorough medical history helps to identify potential risk factors and rule out other conditions that may mimic erythromelalgia.

Clinical Examination

During the clinical examination, the healthcare provider will carefully assess the patient's affected extremities. They will look for characteristic signs such as redness, warmth, and swelling. The provider may also evaluate the distribution and severity of symptoms, as well as any associated skin changes or ulcers. Clinical examination helps to differentiate erythromelalgia from other conditions with similar symptoms.

Diagnostic Criteria

Erythromelalgia is diagnosed based on specific diagnostic criteria established by medical experts. The most widely accepted criteria are the Mitchell and O'Fallon criteria, which include the following:

• Episodic burning pain and redness in the extremities: The patient experiences recurrent episodes of intense burning pain, redness, and heat in the hands and/or feet.


• Triggering or worsening factors: Symptoms are triggered or worsened by exposure to heat, exercise, or dependency (hanging the affected limb down).


• Relief with cooling: Symptoms improve or resolve with cooling the affected area.


• Exclusion of other causes: Other potential causes of similar symptoms, such as autoimmune diseases, peripheral neuropathy, or vascular disorders, should be ruled out.

If the patient meets these diagnostic criteria, further tests may be conducted to confirm the diagnosis and identify potential underlying causes.

Diagnostic Tests

Several diagnostic tests may be performed to support the diagnosis of erythromelalgia and exclude other conditions. These tests include:

• Thermography: Thermography measures the skin temperature and can help visualize temperature differences between affected and unaffected areas. In erythromelalgia, the affected areas typically show increased skin temperature during episodes.


• Nerve conduction studies: Nerve conduction studies evaluate the function of peripheral nerves and can help rule out peripheral neuropathy as a cause of symptoms.


• Blood tests: Blood tests may be conducted to assess inflammatory markers, rule out autoimmune diseases, and evaluate blood cell counts and coagulation parameters.


• Genetic testing: In some cases, genetic testing may be recommended to identify specific gene mutations associated with erythromelalgia.


• Biopsy: A skin biopsy may be performed to examine the microscopic changes in the affected skin and rule out other skin disorders.

Consultation with Specialists

Due to the complexity of erythromelalgia, consultation with specialists may be necessary to confirm the diagnosis and guide treatment. These specialists may include:

• Rheumatologist: Rheumatologists specialize in autoimmune and inflammatory disorders and can help evaluate and manage erythromelalgia.


• Neurologist: Neurologists can assess nerve function and rule out other neurological conditions that may present with similar symptoms.


• Dermatologist: Dermatologists can provide expertise in skin-related manifestations of erythromelalgia and assist in the diagnosis and management.


• Vascular specialist: Vascular specialists can evaluate blood flow and circulation in the affected extremities and help identify any underlying vascular abnormalities.

It is important to note that the diagnosis of erythromelalgia can be challenging due to its rarity and overlapping symptoms with other conditions. Therefore, a multidisciplinary approach involving various healthcare professionals is often necessary to ensure an accurate diagnosis and appropriate management.