From the Guidelines
Erythromelalgia is a rare and debilitating disorder characterized by episodes of burning pain, redness, and warmth in the extremities, most commonly affecting the feet and hands, which can significantly impact quality of life, morbidity, and mortality if left untreated or poorly managed.
Definition and Pathophysiology
Erythromelalgia (EM) is a condition that involves abnormal blood vessel function, often triggered by increased temperature or exercise and relieved by cooling 1. The exact pathophysiology is not fully understood but is thought to involve endogenous temperature control through vasodilation of thermoregulatory arteriovenous anastomoses.
Clinical Presentation and Diagnosis
The condition presents with episodes of burning pain, erythema, and warmth in the extremities, which can be severe enough to lead to significant lifestyle modifications and increased risk of suicide compared to the general population 1. Diagnosis may be missed due to the intermittent nature of symptoms and the fact that affected areas may appear normal at consultation.
Treatment Approach
The most effective treatment approach for erythromelalgia involves a multi-step strategy, starting with evaluating for underlying causes, providing patient counseling, maintaining a normal lifestyle, and safely cooling affected areas, followed by first-line therapy with topical treatments or aspirin, and progressing to second-line systemic therapy if necessary, with referral to a pain rehabilitation center in severe cases 1. This approach is crucial for improving outcomes, reducing morbidity and mortality, and enhancing quality of life for patients with erythromelalgia. Key considerations include:
- Evaluating for and managing underlying causes or associations
- Patient counseling and lifestyle modifications to avoid triggers
- Topical or systemic pharmacologic treatments as needed, based on the severity of symptoms and response to initial therapies
- Referral to specialized care for severe or refractory cases
Importance of Early and Effective Management
Given the potential for erythromelalgia to significantly impact quality of life, morbidity, and mortality, early recognition and effective management are critical. By prioritizing a comprehensive and individualized treatment approach, healthcare providers can help alleviate symptoms, improve patient outcomes, and reduce the risk of severe complications associated with this condition 1.
From the Research
Definition and Characteristics of Erythromelalgia
- Erythromelalgia is a rare, poorly understood clinical condition characterized by intense burning pain, pronounced erythema, and increased skin temperature 2.
- It is primarily associated with severe pain, redness, and hotness in the extremities, particularly the feet and hands 3, 4.
- The condition can be divided into primary and secondary forms, with primary erythromelalgia beginning spontaneously at any age and secondary erythromelalgia associated with various underlying medical conditions 2, 3.
Etiology and Pathogenesis
- Erythromelalgia has a single common pathogenetic mechanism, which is microvascular arteriovenous shunting 2.
- Secondary erythromelalgia is linked to a wide variety of diseases, including myeloproliferative disorders, such as polycythemia vera and essential thrombocythemia 3.
- Primary erythromelalgia is considered an autosomal dominant neuropathy related to mutations of the SCN9A gene, which encodes a voltage-gated sodium channel subtype Nav1.7 5.
Diagnosis and Treatment
- Diagnosis is based on medical history and clinical findings, as there are no diagnostic tests for erythromelalgia 2, 4.
- Treatment options include oral medications such as aspirin, propranolol, clonazepam, and sodium channel blockers like lidocaine and carbamazepine 2, 3, 5.
- Procedural interventions, including epidural infusion, sympathetic ganglion block, and spinal cord stimulation, may also be used to manage erythromelalgia, although the evidence for their use is limited 6.