Erythromelalgia is a rare circulatory disorder that is associated with seizure-like recurring painful swelling in the legs, feet, arms, and/or hands. Men and women can be equally affected by erythromelalgia.
What is erythromelalgia?
Erythromelalgia is the name given to a rare neuro-vascular disorder and functional circulatory disorder associated with seizure-like painful hyperemia (increased blood flow) and reddened swelling of the skin tissue in the acral areas (mainly legs, feet, hands), especially after exposure to heat and/or exertion (including prolonged standing, sitting). Erythromelalgia in the narrower sense can usually be attributed to an underlying hematological disease (including thrombocytosis, thrombocythemia). In addition, the primary and secondary forms of erythromelalgia, each of which correlates with a different etiology, can also be included in the group of forms of erythromelalgia.
Causes
The etiology of erythromelalgia depends on the specific presenting form of the disease and has not been fully elucidated to date. Thus, classical erythromelalgia in the narrow sense manifests in many cases as a symptom of an underlying hematologic disease such as platelet-mediated vascular occlusions resulting from a myeloproliferative syndrome (including chronic myeloid leukemia, thrombocythemia). In addition, primary and secondary forms of erythermalgia can be differentiated, and with regard to primary erythermalgia, a distinction is made between a nonfamilial and a familial form. Familial erythermalgia is attributed to an autosomal-dominantly inherited mutation on the so-called SCN9A gene, which encodes a subunit of a sodium channel of certain nerve cells responsible for pain transmission. As a result of the mutation, the pain threshold is reduced via an increase in function of the affected sodium channel in such a way that the pain symptoms characteristic of erythromelalgia occur during exposure to heat, prolonged standing or sitting. In contrast, secondary erythermalgia is seen in the context of certain rheumatic diseases (including rheumatoid arthritis), systemic metabolic and autoimmune diseases (including. Diabetes mellitus, Sjögren’s syndrome, lupus erythematosus), neurologic diseases (including neuropathies, multiple sclerosis), or the use of certain medications (including nifedipine, norephedrine, bromocriptine, nicardipine) acquired.
Symptoms, complaints, and signs
Erythromelalgia is associated with very unpleasant complaints and symptoms. First and foremost, those affected by this condition suffer from severe pain. Pain is mainly felt as stabbing or burning and has a very negative effect on the quality of life of the affected person. The patient’s everyday life is also frequently restricted due to the constant pain. In many cases, the pain also spreads to neighboring regions of the body and can cause discomfort there as well. Especially at night, erythromelalgia can thus lead to sleep problems and to a general irritability of the affected person. It also leads to the formation of edema and swelling. These occur mainly on the feet and hands and can also have a negative effect on the aesthetics of the affected person. Many patients do not feel beautiful due to the complaints and therefore suffer from inferiority complexes or a significantly reduced self-esteem. Furthermore, the extremities of the affected person are often also very warm, so that burning-feet syndrome can occur. Not infrequently, erythromelalgia thus also leads to severe psychological upsets or even depression. The life expectancy of the patient is usually not negatively affected by the disease.
Diagnosis and course
Erythromelalgia is diagnosed on the basis of the symptoms typical of the disease, particularly the attacks of painful red, hyperemic, and swollen skin in the affected acra. Characteristically, the symptoms can be abruptly reduced by exposure to cold, whereas warming of the affected areas leads to a recurrence of the symptom pattern. Differential diagnosis should exclude other organic and/or functional circulatory disorders as well as burning-feet syndrome and Raynaud’s syndrome.In addition, the underlying disease and the specific form of erythromelalgia should be determined for adequate treatment planning. For example, in contrast to erythromelalgia in the narrower sense, the platelet count in primary and secondary forms of erythermalgia is usually within the normal range. The course of erythromelalgia depends on the severity of the specific symptoms. Often, a chronic, individually highly variable course with progression, and in some cases remission, can be observed.
Complications
Erythromelalgia leads to the same complications in men and in women. Usually, erythromelalgia causes severe pain and swelling in the feet, arms, and legs. These swellings can severely limit the patient’s movement, reducing quality of life. Similarly, warm extremities occur with erythromelalgia. The pain is sharp and causes the sufferer to be unable to perform physical activities or sports. The ability to walk may also be limited by erythromelalgia. Treatment is usually aimed at reducing the pain, so there are no complications in this regard. It is not uncommon for cold therapy to be used to reduce pain, so that the patient cools the affected area with cold water or ice. The constant cooling can cause the skin to crack and hurt. This increases the risk of infection and inflammation of the skin, which is why this therapy should be monitored by a doctor. As a rule, erythromelalgia cannot be prevented completely, so the patient has to live the rest of his life with the symptom. Due to the severe pain, psychological discomfort or depression can occur as well.
When should one go to the doctor?
Since erythromelalgia does not heal itself and usually worsens the symptoms, a doctor must always be consulted. This can prevent the pain and also further complications. A doctor should be consulted for this condition if the affected person suffers from stabbing or burning pain. As a rule, this pain can occur in different parts of the body and thus significantly reduce the quality of life of the affected person. Edema may also occur and is often accompanied by swelling of the feet and hands. If these swellings appear without any particular reason, a visit to the doctor is usually advisable. Furthermore, warm extremities often indicate erythromelalgia. In many cases, those affected with erythromelalgia also suffer from a burning sensation in the feet, which can make everyday life much more difficult. The diagnosis of erythromelalgia can be made by a general practitioner. The doctor can also support the affected person in the further treatment with the help of medication. As a rule, there is a positive course of the disease.
Treatment and therapy
In erythromelalgia, therapeutic measures correlate with the possible underlying disease and are adapted to the specific complaints present. The pain symptomatology of erythromelalgia in the narrower sense can generally be therapeutically reduced by the application of acetylsalicylic acid or indometacin, although a pronounced impairment of platelet function or a high platelet count should be accompanied by a correspondingly high dosage. An alternative therapeutic measure is high-dose magnesium, while prostaglandin-E1 (also alprostadil) with subsequent application of nitroprusside sodium (including Nipruss) can also be used experimentally. In contrast, primary and secondary forms of erythermalgia do not respond to acetylsalicylic acid (exclusion criterion). In primary erythermalgia, causal therapy of the neuropathic pain attacks is difficult due to the underlying mutation, which is why therapeutic measures are exclusively symptomatic. In many cases, long-term local anesthetics (e.g., lidocaine, bupivacaine), anticonvulsants (e.g., phenytoin), or systemic antiarrhythmics (e.g., mexiletine) that block voltage-gated sodium channels are used to reduce pain. Analogous to erythromelalgia in the narrower sense, secondary erythermalgia focuses on treatment of the underlying disease.Furthermore, regardless of the specific form of erythromelalgia, when attacks of pain are pronounced, the need to relieve pain with cold ice water can lead to macerated skin and skin fissures in the long term, which in turn promote infections and even the manifestation of sepsis.
Outlook and prognosis
Erythromelalgia is associated with a relatively poor prognosis. To date, the disease cannot be treated causally. The individual symptoms can be reduced, but not completely eliminated, by multifaceted therapeutic measures such as the administration of calcium antagonists and antidepressants. In principle, the disease can be better treated the earlier it is diagnosed. Individuals who have the condition diagnosed in the early stages are often pain-free after comprehensive therapy. Close follow-up care can reduce the risk of serious vascular complications. This also improves the prognosis associated with the disease. The course of erythromelalgia can vary widely. A final prognosis can be made only by the competent physician, who takes into account the course of the disease, the patient’s health condition and other factors for this purpose. People suffering from erythromelalgia should therefore first talk to the medical professional. If further complications occur, the prognosis will worsen. Life expectancy is not reduced by the vascular condition. However, secondary diseases of the cardiovascular system, the vessels and the psyche can have a negative impact on health. In individual cases, severe complications such as heart attacks or thromboses occur, which are life-threatening.
Prevention
Erythromelalgia can only be prevented to a limited extent. In particular, no known measures for prophylaxis exist to date for genetically determined primary erythermalgia. In addition, diseases in the context of which erythromelalgia may occur should be timely and adequately treated to reduce the risk of manifestation.
Follow-up
In most cases of erythromelalgia, no special measures or options for aftercare are available to the affected person. In this case, the affected person is therefore primarily dependent on an early diagnosis with early treatment to prevent further complications or other complaints. The earlier the erythromelalgia is detected, the better the further course of this disease often is. The treatment itself depends on the exact symptoms and is usually carried out with the help of medication. Care must be taken to ensure that the medication is taken correctly. In case of ambiguity or other doubt, a doctor or pharmacist should always be asked for advice. Furthermore, erythromelalgia can be treated in many cases by taking magnesium. This can also be taken through food, so that a healthy and balanced diet can also have a positive effect on the further course of erythromelalgia. In many cases, sufferers are dependent on further regular examinations even after successful treatment. Whether the disease reduces the life expectancy of the affected person cannot be generally predicted.
What you can do yourself
In everyday life, the patient can take some measures to alleviate his or her symptoms. The swollen legs and feet should be relieved and cooled. To prevent cracking of the skin, it is helpful if the patient uses creams and ointments to care for the skin. Overexertion and incorrect postures of the body should be avoided despite the discomfort. To prevent the risk of accidents, sources of danger should be minimized when gait is unsteady, and the completion of daily activities should be restructured. Many patients take up the offer of relaxation methods for a relief of the pain experience. Through mental work, relief from symptoms can be experienced with methods such as meditation or self-hypnosis. Deep relaxation helps many pain patients to achieve an improvement in their quality of life. Relief of pain symptoms can be achieved via various breathing techniques or the targeted tensing or relaxing of muscles. Progressive muscle relaxation is recommended for this purpose. In addition, cognitive methods help to counter the demands of everyday life as well as the symptoms of erythromelalgia.In behavioral therapy, the patient can learn various techniques for coping with pain, which he can then integrate into his daily routine on his own responsibility. The affected person can help himself enormously if he understands not to be at the mercy of the pain.
