Erythromelalgia

The Erythromelalgia is a rarely occurring circulatory disorder that is accompanied by recurring attacks of painful swellings in the legs, feet, arms and / or hands. Erythromelalgia can equally affect men and women.

What is erythromelalgia?

Since erythromelalgia does not heal itself and the symptoms usually worsen, a doctor must always be consulted.
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Erythromelalgia is a rare neuro-vascular disease and functional circulatory disorder that results in painful hyperemia (increased blood flow) and reddened swellings of the skin tissue in the acral areas (especially legs, feet, hands), especially after exposure to heat and / or stress (etc.) long standing, sitting).

Erythromelalgia in the narrower sense can usually be traced back to an underlying hematological disease (including thrombocytosis, thrombocythemia). In addition, the primary and secondary forms of erythermalgia, each of which correlates with a different etiology, can also be counted among the types of erythromelalgia.

causes

The etiology of erythromelalgia depends on the specific form of the disease and has not yet been fully understood. Classic erythromelalgia in the narrower sense manifests itself in many cases as a symptom of an underlying hematological disease such as platelet-mediated vascular occlusions as a result of a myeloproliferative syndrome (including chronic myeloid leukemia, thrombocythemia).

In addition, a distinction can be made between primary and secondary forms of erythermalgia, whereby a distinction is made between a non-familial and a familial form with regard to primary erythermalgia. Familial erythermalgia is attributed to an autosomal dominant inherited mutation in the so-called SCN9A gene, which encodes a subunit of a sodium channel of certain nerve cells that are responsible for the transmission of pain.

As a result of the mutation, the pain threshold is reduced by increasing the function of the affected sodium channel so that the pain symptoms characteristic of erythromelalgia occur when exposed to heat, standing or sitting for long periods of time.

On the other hand, secondary erythermalgia is used in the context of certain rheumatic diseases (including rheumatoid arthritis), systemic metabolic and autoimmune diseases (including diabetes mellitus, Sjögren's syndrome, lupus erythematosus), neurological diseases (including neuropathies, multiple sclerosis) or the use of certain medications (including nifedipine, norephedrine, bromocriptine, nicardipine).

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➔ Medicines against edema and water retention

Symptoms, ailments & signs

Erythromelalgia is associated with very unpleasant complaints and symptoms. First and foremost, those affected suffer from severe pain with this disease. Pain is felt primarily as stabbing or burning and has a very negative effect on the quality of life of the person affected. The patient's everyday life is also often restricted due to the permanent pain.

In many cases, the pain also spreads to the neighboring regions of the body and can also lead to discomfort there. Especially at night, erythromelalgia can lead to sleep problems and general irritation in the person concerned. Edema and swelling continue to develop.

These occur mainly on the feet and hands and can also have a negative effect on the aesthetics of the person affected. Many patients do not feel beautiful because of the symptoms and therefore suffer from inferiority complexes or from a significantly reduced self-esteem.

Furthermore, the extremities of the person affected are often very warm, so that Burning Feet Syndrome can occur. It is not uncommon for erythromelalgia to lead to severe psychological upset or even to depression. The life expectancy of the patient is usually not negatively affected by the disease.

Diagnosis & course

Erythromelalgia is diagnosed on the basis of the symptoms typical for the disease, in particular the painfully reddened, hyperemic and swollen skin in the affected acra, which occurs in the form of attacks.

Characteristically, the symptoms can be suddenly reduced by exposure to cold, while warming of the affected areas leads to a recurrence of the symptoms. Other organic and / or functional circulatory disorders as well as Burning Feet Syndrome and Raynaud's Syndrome should be excluded from the differential diagnosis.

In addition, the underlying underlying disease and the specific form of erythromelalgia should be determined for adequate treatment planning. For example, in the primary and secondary forms of erythermalgia, in contrast to erythromelalgia in the narrower sense, the platelet count is usually in 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 remissions, can be observed.

Complications

Erythromelalgia leads to the same complications in men and women. Usually erythromelalgia causes severe pain and swelling in the feet, arms and legs. These swellings can severely restrict the patient's movement and thus reduce the quality of life.

The extremities are also warm in erythromelalgia. The pain is sharp and means that the person is no longer able to carry out physical activities or sports. The ability to walk can also be restricted by erythromelalgia. The treatment is usually aimed at reducing the pain so that there are no complications.

It is not uncommon for cold therapy to be used to reduce pain, so that the patient cools the affected areas with cold water or ice. The constant cooling can cause the skin to crack and hurt. This increases the risk of infections and inflammation on the skin, which is why this therapy should be checked by a doctor.

As a rule, erythromelalgia cannot be completely prevented, so that the patient with the symptom has to lead the rest of their life. The severe pain can also lead to psychological complaints or depression.

When should you go to the doctor?

Since erythromelalgia does not heal itself and the symptoms usually worsen, a doctor must always be consulted. This can avoid the pain and other complications. A doctor should be consulted with this disease if the person concerned is suffering from stabbing or burning pain. As a rule, these pains can occur in different parts of the body and thereby significantly reduce the quality of life of the person affected.

Edema can also occur and is often accompanied by swelling of the feet and hands. If these swellings appear for no particular reason, a visit to the doctor is usually advisable. Furthermore, warm extremities often indicate erythromelalgia. In many cases, those affected by erythromelalgia also suffer from a burning sensation on their 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 patient with medication during further treatment. As a rule, the disease progresses positively.

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Treatment & Therapy

In the case of erythromelalgia, the therapeutic measures correlate with the possible underlying disease and are adapted to the specific symptoms. The pain symptoms of erythromelalgia in the narrower sense can usually be reduced therapeutically by the application of acetylsalicylic acid or indomethacin, whereby a pronounced impairment of the platelet function or a high platelet count should be accompanied by a correspondingly high dose.

An alternative therapeutic measure is high-dose magnesium, while prostaglandin E1 (also alprostadil) with subsequent application of sodium nitroprusside (including nipruss) can also be used experimentally. In contrast, the primary and secondary forms of erythermalgia do not respond to acetylsalicylic acid (exclusion criterion). In primary erythermalgia, a causal therapy for neuropathic pain attacks is difficult due to the underlying mutation, which is why the therapeutic measures are exclusively symptomatic.

In many cases, long-term local anesthetics (including lidocaine, bupivacaine), anticonvulsants (including phenytoin) or systemic antiarrhythmics (including mexiletine), which block the voltage-controlled sodium channels, are used to reduce pain. Analogous to erythromelalgia in the narrower sense, the treatment of the underlying disease that triggers the disease is the focus of secondary erythermalgia.

Furthermore, regardless of the specific form of erythromelalgia, the need to relieve the pain with cold ice water in the case of pronounced pain attacks can lead to macerated skin and skin fissures in the long term, which in turn favor infections and even the manifestation of sepsis.

Outlook & forecast

Erythromelalgia is associated with a relatively poor prognosis. The disease cannot yet be treated causally. The individual symptoms can be reduced by a variety of therapeutic measures such as the administration of calcium antagonists and antidepressants, but not completely eliminated. In principle, the earlier it is diagnosed, the better the disease can be treated.

People in whom the condition was recognized in the first stage 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.

Erythromelalgia can take very different courses. A final prognosis can only be made by the responsible doctor, who takes into account the course of the disease, the patient's state of health and other factors. People who suffer from erythromelalgia should therefore first speak to the doctor.

If further complications arise, the prognosis worsens. Life expectancy is not reduced by the vascular disease. However, secondary diseases of the cardiovascular system, blood vessels and psyche can have a negative impact on health. In individual cases, serious complications such as heart attacks or thromboses occur, which are life-threatening.

You can find your medication here

➔ Medicines against edema and water retention

prevention

Erythromelalgia can only be prevented to a limited extent. In particular for genetically determined primary erythermalgia there are no known prophylaxis measures to date. In addition, diseases in the context of which erythromelalgia can occur should be treated adequately and in good time in order to reduce the risk of a manifestation.

Aftercare

In the case of erythromelalgia, in most cases there are no special measures or options for follow-up care available. The person concerned is therefore primarily dependent on an early diagnosis with early treatment so that there are no further complications or other complaints. The earlier the erythromelalgia is detected, the better the further course of this disease is often.

The treatment itself depends on the exact symptoms and is usually carried out with the help of medication. It is important to ensure that it is taken correctly. If anything is unclear or in other cases of doubt, a doctor or pharmacist should always be asked for advice. Furthermore, erythromelalgia can in many cases be treated by taking magnesium.

This can also be consumed through food, so that a healthy and balanced diet can also have a positive effect on the further course of erythromelalgia. In many cases, those affected depend on further regular examinations even after successful treatment. Whether the disease will reduce the life expectancy of the person affected cannot be generally predicted.

You can do that yourself

In everyday life, the patient can take some measures to alleviate his symptoms. The swollen legs and feet should be relieved and cooled. In order to avoid cracking the skin, it is helpful if the patient uses creams and ointments for skin care. Overexertion and poor posture of the body should be avoided despite the complaints. To prevent the risk of accidents, sources of danger are to be minimized in the event of unsteadiness and the handling of everyday activities should be restructured.

Many patients take advantage of relaxation procedures to alleviate their pain. With methods such as meditation or self-hypnosis, symptom relief can be experienced through mental work. Deep relaxation helps many pain sufferers to improve their quality of life. Relief of the pain symptoms can be achieved through various breathing techniques or targeted tensing or relaxing of the muscles. Progressive muscle relaxation is recommended for this.

In addition, cognitive processes help to meet the demands of everyday life and the symptoms of erythromelalgia. In behavior therapy, the patient can learn various techniques for coping with pain, which he can then integrate into his daily routine independently. Those affected can help themselves tremendously if they understand how not to be exposed to the pain.