Peripheral Artery Disease Management (60)
Venous Thromboembolism Diagnosis and Management (52)
Diagnosis and Treatment of Venous Diseases (48)
Central Venous Catheters and Hemodialysis (16)
Cerebrovascular and Carotid Artery Diseases (14)
Lee JU, Ma JE, Sartori Valinotti JC, Rooke TW, Sandroni P , et al.
Vascular medicine (London, England) •
Erythromelalgia is a rare disorder characterized by episodic burning pain with redness and warmth of the extremities. Topical and systemic medications are the mainstay of management. We reviewed the published evidence for using procedural interventions to manage erythromelalgia, including their proposed mechanism of action and possible adverse effects, and included information in this review on epidural infusion, sympathetic ganglion block, sympathectomy, pulsed radiofrequency, spinal cord stimulation, dorsal root ganglion stimulation, brain stimulation, transcranial magnetic stimulation, and botulinum toxin injections. Both successful and unsuccessful outcomes have been reported. Although these procedural interventions extend the therapeutic options for erythromelalgia, the evidence for their use is limited. Case reports and small case series comprise most of the evidence. Based on our review, a multidisciplinary approach to management may be needed for patients with erythromelalgia.
Ma JE, Lee JUJ, Sartori-Valinotti JC, Rooke TW, Sandroni P , et al.
Mayo Clinic proceedings •
Erythromelalgia (EM) is a rare disorder characterized by episodic, burning pain associated with erythema and warmth of the extremities. The feet and hands are most commonly affected. The pain can be so severe that patients may engage in behaviors, sometimes extreme, to cool the affected areas and change their lifestyle to avoid precipitating factors, such as exercise and increased ambient heat. A literature search was performed with PubMed and MEDLINE with the search term erythromelalgia. Inclusion criteria were studies on EM published after 1985 until January 1, 2022, in the English language and studies that provided information on medical treatment of EM. Studies were excluded if they were duplicates or did not include treatment data. No guidelines exist for the treatment of this complex disorder. Lifestyle modifications and pharmacologic treatments (topical and systemic) are discussed in this article, which provides a comprehensive review of published medical management options for erythromelalgia and a proposed approach to management.
Skeik N, Rooke TW, Davis MD, Davis DM, Kalsi H , et al.
Vascular medicine (London, England) •
Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling. Erythromelalgia can be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. Recently, there has been a lot of progress in studying Na(v)1.7 sodium channels (expressed mostly in the sympathetic and nociceptive small-diameter sensory neurons of the dorsal root ganglion) and different mutations affecting the encoding SCN9A gene that leads to channelopathies responsible for some disorders, including primary erythromelalgia. We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. We also provided a short literature review about erythromelalgia and Na(v) sodium channelopathies.
Current treatment options in cardiovascular medicine •
No treatment is consistently effective in the management of patients with erythromelalgia. There is a dearth of adequate studies examining the response of erythromelalgia to treatment. Most recommendations are suggested based on case reports, small case series, and anecdotal reports. The management of erythromelalgia is difficult and frequently involves a multidisciplinary approach. An approach to management of individuals with erythromelalgia includes patient education, learning to avoid episodes, relieving discomfort of the episodes, controlling secondary and underlying factors, and use of drugs used to control erythromelalgia.
To assess the frequency and type of vascular changes and neurologic abnormalities in patients with erythromelalgia. Prospective study of patients with no spontaneous symptoms at the time of their visit and with provoked symptoms. Tertiary referral center. Sixty-seven patients presenting with erythromelalgia at Mayo Clinic, Rochester, Minn, from 1999 through 2001. Testing nerve and vascular function in patients without symptoms present; testing vascular function after provoking symptoms with exercise or by increasing ambient temperature. In patients in whom symptoms could be elicited, vascular function with and without symptoms was assessed by measurement of local skin temperature, laser Doppler flow, and transcutaneous oximetry. Neurologic assessment included electromyography, nerve conduction studies, and autonomic reflex screening (using the quantitative sudomotor axon reflex test, adrenergic function testing, heart rate response to deep breathing, and the Valsalva ratio). Autonomic reflex screening was performed on 57 (85%) of the 67 patients. Of these 57 patients, 46 (81%) had abnormal quantitative sudomotor axon reflex test results; 14 (25%) had abnormal adrenergic function; and 15 (26%) had abnormal cardiovagal function. Put in another way, results were abnormal for 49 (86%) of the 57 patients who had autonomic reflex screening. Severe sudomotor abnormalities (ie, absent or markedly reduced sweat production) were present in 46 (94%) of these 49 patients; 14 (29%) had abnormal adrenergic function, and 15 (31%) had a cardiovagal abnormality. Electromyography and nerve conduction studies were performed in 24 (36%) of the 67 patients. Of these 24 patients, 14 (58%) had abnormal electromyographic results and 10 (42%) had abnormal nerve conduction study results. Vascular function studies, with and without symptoms present, were performed in 13 of the 67 patients. During symptoms, the mean temperature of the toe skin increased by 7.8 degrees C, and blood flow increased 10.2-fold. Paradoxically, mean transcutaneous oximetry measurements did not change. This prospective study extends and confirms our previous observation that, in addition to other forms of neuropathy, most patients with erythromelalgia have small-fiber neuropathy.
Current treatment options in cardiovascular medicine •
No treatment is consistently effective in the management of patients with erythromelalgia. There is a dearth of adequate studies examining the response of erythromelalgia to therapy. Most recommendations are suggested based on case reports, small case series, and anecdotal reports. The management of erythromelalgia is difficult and frequently involves a multidisciplinary approach. An approach to management of individuals with erythromelalgia includes patient education, learning to avoid episodes relieving discomfort of the episodes, controlling secondary and underlying factors, and use of drugs used to control erythromelalgia.
To describe the demographics, presentation, and outcome in patients with erythromelalgia--a rare and poorly understood clinical syndrome defined by the triad of red, hot, painful extremities. Retrospective medical record review with follow-up by survey questionnaire. Large tertiary care medical center. Patients with erythromelalgia examined at the Mayo Clinic, Rochester, Minn, between 1970 and 1994. The medical records of 168 patients were analyzed. Follow-up data, which consisted of answers to 2 survey questionnaires or the most recent information in the medical record from patients still alive and death certificates or reports of death for those deceased patients, were obtained for all but 13 patients. Survival, morbidity, and quality of life. All patients were white; 122 (72.6%) were female, and 46 (27.4%) were male. At presentation, the patients' mean age was 55.8 years (age range, 5-91 years). Symptoms had been present since childhood in 7 patients (4.2%). Six patients (3.6%) had a first-degree relative with erythromelalgia. Symptoms were intermittent in 163 patients (97.0%) and constant in 5 (3.0%). Symptoms predominantly involved feet (148 patients [88.1%]) and hands (43 patients [25.6%]). Kaplan-Meier survival curves revealed a significant decrease in survival compared with that expected in persons of similar age and of the same sex (P<.001). After a mean follow-up of 8.7 years (range, 1.3-20 years), 30 patients (31.9%) reported worsening of, 25 (26.6%) no change in, 29 (30.9%) improvement in, and 10 (10.6%) complete resolution of the symptoms. On a standard health status questionnaire, scores for all but one of the health domains were significantly diminished in comparison with those in the US general population. Erythromelalgia is a syndrome with significantly increased mortality and morbidity compared with the US general population.