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New Theories and New Therapies CLINICAL REVIEW Erythromelalgia: New theories and new therapies Jay S. Cohen, MD La Jolla, California Erythromelalgia is a rare condition that has remained an enigma diagnostically and therapeutically for decades. It has been assumed that erythromelalgia, which is characterized by hot, red, intensely painful feet or hands, may be the opposite of Raynaud’s phenomenon. However, new research suggests that these two disorders are more similar than dissimilar. Erythromelalgia usually follows a chronic, sometimes progressive and disabling course. New evidence suggests that this may not be a disease entity at all, but a syndrome of dysfunctional vascular dynamics; recent studies demonstrate that this dysfunction is reversible in some patients. This review article presents the latest theories and successful treatments for erythromelalgia, and data from a survey of members of The Erythromelalgia Association, which was formed to provide information about erythromelalgia to doctors and patients. (J Am Acad Dermatol 2000;43:841-7.) he incidence and prevalence of erythromelal- gia in the United States are unknown. Abbreviations used: T Kvernebo1 estimates an incidence of 0.25/ CRPS: complex regional pain syndrome 100,000 and a prevalence of 2/100,000 in Norway. PGE: prostaglandin E Erythromelalgia can be primary or secondary. RP: Raynaud’s phenomenon Primary erythromelalgia begins spontaneously at any TEA: The Erythromelalgia Association age. Secondary erythromelalgia has been reported with many disorders but most often with polycythemia, thrombocythemia, neuropathies, and autoimmune dis- arms, from lower to upper limbs or vice versa, or to eases1-19 (Table I1-36). Unlike Raynaud’s phenomenon the face or ears (The Erythromelalgia Association (RP), patients with primary erythromelalgia do not typ- [TEA] survey), typically bilaterally. ically experience autoimmune diseases in subsequent In mild cases, erythromelalgia’s constellation of years. symptoms may be apparent only during a flare, The onset of erythromelalgia may be gradual with which is characterized by acute erythema, heat, some cases remaining mild and unchanged for swelling, and pain. Flaring typically occurs late in the decades, or erythromelalgia may begin acutely, spread- day and continues through the night, impairing ing or becoming disabling within weeks (Table II). sleep. Flaring is improved by elevating the affected limbs. In severe cases, patients elevate the limbs con- DESCRIPTION tinuously. Some patients complain of severe tingling Erythromelalgia is characterized by intense burn- or neuropathy-like pain when flaring. ing pain, marked erythema, and increased skin tem- perature. Most patients experience erythromelalgia EFFECTS OF TEMPERATURE in the feet, but the hands may be the primary sites Heat intolerance and relief with cooling are hall- (Table II). Although typically bilateral, erythromelal- marks of erythromelalgia. Exposure to warmth can gia may be unilateral, especially in secondary cases. trigger flaring and increase its severity. Patients Severe erythromelalgia may spread up the legs or quickly learn that their erythromelalgia is triggered at a specific temperature, which varies considerably between individuals. From the Department of Psychiatry, University of California, San Diego. Relief of pain with ice water immersion is so com- Reprint requests: Jay S. Cohen, MD, 2658 Del Mar Heights Rd, Box mon that it is almost pathognomonic. Others buy air 120, Del Mar, CA 92014. E-mail: [email protected]. conditioners or blow fans across their affected areas. Dr Cohen is a board member of The Erythromelalgia Association In severe cases, patients perform ice water immer- and currently is with the Departments of Family and Preventive sions nearly constantly, which may trigger reactive Medicine and Psychiatry. Copyright © 2000 by the American Academy of Dermatology, Inc. flaring, and a vicious cycle can occur. Frequent immer- 0190-9622/2000/$12.00 + 0 16/1/109301 sion can lead to maceration of the skin, nonhealing doi:10.1067/mjd.2000.109301 ulcers, infection, necrosis, and amputation.4,37 841 842 Cohen J AM ACAD DERMATOL NOVEMBER 2000 Table I. Disorders associated with erythromelalgia* Table II. Results of informal survey of TEA members Hematologic disorders Total responses = 41 Polycythemia, thrombocythemia2,3,5-8,15 Age at which erythromelalgia appeared: Leukemia, particularly chronic myeloid leukemia2,3 Mean age = 41.6 Hereditary spherocytosis3 Age of onset per decade: 0-9 years old = 3 cases; Pernicious anemia4,8 10-19 = 4; 20-29 = 6; 30-39 = 3; 40-49 = 8; 50-59 = 8; Thrombotic thrombocytopenic purpura9 60-69 = 4; 70-79 = 5. Cardiovascular disorders (Many members had prodromal symptoms of burning Atherosclerosis3 pain, heat intolerance, or facial flushing for months or Hypertension2,10-12 years before the appearance of characteristic vasomo- Venous insufficiency4 tor symptoms.) Embolic disease Areas afflicted: Cholesterol crystal emboli syndrome3 Lower limbs only or mainly = 21 Metabolic disorders Upper and lower limbs = 17 Diabetes mellitus, types 1 & 22,3,13 Face or ears also sometimes involved = 17 3 Hypercholesterolemia Unilateral or bilateral: 2,14 Gout Bilateral = 40 2 Familial nephritis Unilateral = 1 Connective tissue disorders Erythromelalgia episodic or active most of the time: 2,3 Rheumatoid arthritis Episodic (worse in late afternoon, evening, nighttime) 2,3,15,16 Systemic lupus erythematous = 26 Mixed connective tissue disorder Active most of the time = 13 Sjogren’s syndrome Flaring: Vasculitis17,18 Flaring (paroxysmal hyperemia, increased warmth, Infectious diseases swelling, pain) = 39 AIDS3 Presence of redness or hyperemia: Recurrent bacterial infections3 Red most of the time = 19 Viral infections1,19 Episodic redness (with activity or flaring) = 14 Syphilis2 Hardly any redness = 4 Musculoskeletal disorders Pain: Sciatica3 Severe = 21 Carpal tunnel syndrome, peritendinitis3 Moderate = 16 Back trauma or surgery1-3 Neck and other trauma Mild = 4 Neurologic disorders Coolness in affected limbs when not flaring and in a cold Neuropathies1,13,20,21 environment: Multiple sclerosis4 Diagnosed with Raynaud’s phenomenon = 4 Spinal cord disease, sciatica3,22 No Raynaud’s, but involved areas get colder than Drug induced normal = 14 Iodide contrast injection3 Erythromelalgia primary or secondary: Vaccines: influenza, hepatitis23,24 Primary = 26 Oral medications: nifedipine, felodipine, nicardipine, Secondary = 13 bromocriptine, norephedrine, pergolide, ticlopidine1-3,23-33 Uncertain = 2 Other conditions Carcinoma: abdominal,34 colon,3 thymoma,1 astrocytoma35 Frostbite3 cannot wear socks or closed shoes even in winter. In 1,3 Conversion disorder severe cases, patients become virtually housebound Mercury poisoning36 by continuous flaring and pain. Standing and even *A causal relationship has not been established for some of these sitting with the legs down become increasingly intol- conditions. erable, and constant elevation becomes necessary. Work and social functioning are disrupted, which in turn affects family functioning. IMPACT ON NORMAL FUNCTIONING Even mild erythromelalgia can greatly affect nor- REACTIVE HYPEREMIA IN mal functioning and quality of life. Patients avoid ERYTHROMELALGIA AND RP warm weather and limit their activities to cool or air- Erythromelalgia has some similarities with RP. RP’s conditioned locations. Some move to cooler cli- most prominent symptom is the whiteness of digits mates. Evening activities are avoided. Many patients from cold-induced vasoconstriction, but the greatest J AM ACAD DERMATOL Cohen 843 VOLUME 43, NUMBER 5 discomfort sometimes occurs with warming, which patient can be directed to an after-hours facility for is described in terms that resemble erythromelalgia: examination when flaring occurs. intense heat, redness, vasodilation, and burning Other telltale symptoms and signs may help in mak- pain. It is hypothesized that similar dynamics under- ing the diagnosis. Some patients report tingling pain or lie this aspect of RP and erythromelalgia: the hyper- exhibit allodynia during flaring. Severe cases may devel- emia phase is more prominent in erythromelalgia, op numbness in some digits. Several TEA members whereas the constriction phase is more prominent in report curled or hyperextended toes, but it is not clear RP. This might explain the puzzling reports of ery- whether this association is causal or incidental. Skin thromelalgia and RP in the same patients.28,38,39 injury from repeated immersion may be apparent. Littleford, Khan, and Belch40 measured the skin Primary versus secondary erythromelalgia must temperature of patients with erythromelalgia, which, be differentiated. In all new cases, underlying causes when not flaring, was lower than that of control sub- should be sought. Erythromelalgia may be an early jects. This suggests a subclinical vasoconstriction dur- sign of polycythemia or thrombocythemia,2,3,5-8,15 ing the day with subsequent reactive hyperemia at and appropriate laboratory studies should be per- night. Littleford, Khan, and Belch state: “We believe formed periodically. that, in erythromelalgia, vasoconstriction precedes reactive hyperemia, similar to that seen in Raynaud’s DIFFERENTIAL DIAGNOSIS phenomenon.” (p 588) This may explain why some With a good history and classic findings, the diag- patients have noticeably cool, yet still erythematous nosis of erythromelalgia is easily made. Nevertheless, limbs during the day as their symptoms progress. erythromelalgia may be confused with some
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