Erythromelalgia
| Classification according to ICD-10 | |
|---|---|
| I73.8 | Other specified peripheral vascular diseases |
| ICD-10 online (WHO version 2019) | |
Erythromelalgia (from ancient Greek erythros (ἐρυθρός) red, melos (μέλος) limb, algos (ἄλγος) pain), often abbreviated EM , is a very rare peripheral neurovascular disorder ( affecting the nerves and blood vessels, vascular disease) or vascular disease is characterized by reddening ( erythema ), pain and increased skin temperature on the extremities (more rarely also on the ears and cheeks). It is also known as erythralgia , erythromelalgia , erythermalgia , Mitchell syndrome or Gerhardt syndrome .
EM occurs as an autosomal ( hereditary diseases ) dominantly inherited primary erythromelalgia as well as secondary erythromelalgia, i.e. H. as a symptom of another underlying disease.
Occurrence
Research in the US from 2009 found an incidence (number of people diagnosed with EM per year) averaging 1.3 per 100,000. The rate of women was higher (2.0 per 100,000) than that of men (0.6 per 100,000). The mean age at diagnosis was 61 years. About five percent of those affected have the primary, inherited form of the disease.
EM is even less well known in German-speaking countries than in America, which is why there are hardly any European studies and research on EM. The Canadian pharmaceutical company Xenon Pharmaceuticals Inc. started an ongoing study in early 2014 on the primary inherited form of the disease with regard to gene mutations in the SCN9A gene (for more information, see causes ). Any EM patient worldwide can apply for this study.
Symptoms and signs
The most noticeable symptoms of erythromelalgia are redness, swelling , heating, burning and / or throbbing pain, and tenderness in the extremities. These symptoms are often symmetrical and more often affect the feet than the hands, and less often the ears and face, preferably on the cheeks. They can last from minutes to several hours and cause those affected to be immediately forced to cool or elevate the affected areas. Often those affected describe the symptoms as walking on glowing coals or lava . The frequency of such episodes of pain, which ranges from several times a day to once every few months, is very individual. Such episodes are triggered by heat sources of any kind (physical exertion, standing or running, summer temperatures from approx. 15 ° C as well as high humidity, heating air, hair dryer, hot or spicy food and much more) as well as mental stress such as stress or after alcohol or caffeine -Enjoyment. After such an episode, edema sometimes remains in the affected areas.
In some patients, the symptoms mentioned appear slowly increasing over a period of up to several years, in others, however, they suddenly come on at full strength. The majority of those affected suffer from these symptoms from a considerable decrease in quality of life and often have to reduce their social life to a minimum. The intense burning pain can also cause serious psychological problems and trigger depression .
causes
Secondary erythromelalgia has a mostly still not understood aetiology . Primary erythromelalgia is due to a number of congenital genetic defects. So far, various point mutations of the voltage-dependent sodium channel NaV 1.7 have been described (SCN9A gene of the α-subunit), all of which lead to an increased function of the channel ( gain of function mutation ). This sodium channel is expressed, among other things, on nerve fibers for pain perception ( nociceptors ). Their increased excitability leads to stress-dependent pain and to the release of substance P and calcitonin gene-related peptides (CGRP), which in turn have a vasodilating effect and explain the reddening and overheating of the extremities.
In several outbreaks of an endemic form of erythromelalgia in China, a virus associated with this form of disease, the erythromelalgia-associated poxvirus (ERPV), was isolated.
diagnosis
It is often a long way to a clear diagnosis of erythromelalgia because there is no specific test. Other organic and / or functional circulatory disorders as well as Burning Feet Syndrome and Raynaud's Syndrome should be excluded from the differential diagnosis . Other diseases such as complex regional pain syndrome ( Sudeck's disease ) have similar symptoms. It often takes months or years for patients to arrive at the diagnosis of EM and have an odyssey of visits to the doctor behind them.
Erythromelalgia is sometimes caused by other conditions, including:
- Arterial Disease
- Diabetes mellitus
- arterial hypertension
- Thrombophlebitis
- myeloproliferative diseases such as polycythemia vera and thrombocythemia
- Hypercholesterolemia
- Autoimmune disease
- Fabry disease
- Mercury or mushroom poisoning
- Sciatica
In addition, some drugs such as bromocriptine , pergolide , verapamil, or ticlopidine can cause erythromelalgia.
Erythromelalgia can precede the manifestation of the underlying disease by years. Once the diagnosis of EM has been made, a blood or saliva test can be used to determine a mutation in the SCN9A gene, which would explain primary erythromelalgia.
Therapy / treatment
In the course of their illness, patients usually develop idiosyncratic lifestyles to prevent the pain episodes described above. This includes not wearing shoes and / or socks, and generally not wearing thick clothing. Furthermore, they often elevate the affected extremities or use special cooling pads or cooling mattresses as well as fans to cool off. It is strongly advised not to place the affected limbs in cold or ice water during episodes of burning pain. This extreme relationship between hot and cold leads to skin damage such as skin fissures or often therapy-resistant ulcers . Instead, the hot extremities should be stripped and raised in a cool environment until the redness and pain subside.
Regarding drug therapy, it should be noted that there is currently no remedy that helps all patients. Therefore, the drug therapy is highly individual and often after the so-called trial-and-error method ( tasting process ). These drugs caused great relief in some people and made symptoms worse in others. Patience, discipline and caution are therefore essential for drug therapy.
With secondary EM, treatment of the underlying disease is mandatory. If the underlying condition is cured, the symptoms of erythromelalgia may go away.
For primary EM, treatment is often symptomatic for pain relief. Neuropathic pain relievers such as pregabalin or gabapentin are often prescribed. Actual antidepressants ( SNRIs and SSRIs ) such as duloxetine and venlafaxine are also possible due to their pharmacological effects. The combination of pregabalin and duloxetine had a great effect, according to some EM patients, whereas the side effects were intolerable for others. Calcium antagonists such as diltiazem or the oral intake of magnesium can also be tried .
Web links
- erythromelalgie.net : German self-help group and contact point for those affected
- erythromelalgia.org : The Erythromelalgia Association (TEA), a support group for EM patients in the US
- livingwitherythromelalgia.org : Internet forum for EM patients from around the world
swell
- Hans Hornbostel, Werner Kaufmann, Walter Siegenthaler (Hrsg.): Internal medicine in practice and clinic . Thieme-Verlag, Stuttgart 1991ff (4 vols.)
- Jean D. Wilson , Eugene Braunwald et al .: Harrison's Principles of Internal Medicine McGraw-Hill Medicine, New York 2012, ISBN 978-0-07-174889-6 .
- SD Dib-Hajj, AM Rush, TR Cummins et al: Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. In: Brain. A journal of neurology. Vol. 128 (2005), Part 8, pp. 1847-1854, ISSN 0006-8950 ; doi: 10.1093 / brain / awh514 ; PMID 15958509
- JS Cohen: The Medical Treatment of Erythromelalgia. on: MedicationSense.com , January 3, 2012.
Individual evidence
- ^ KB Reed, MD Davis: Incidence of erythromelalgia: a population-based study in Olmsted County, Minnesota. In: J Eur Acad Dermatol Venereol. 23 (1), (January 2009), pp. 13-15. doi: 10.1111 / j.1468-3083.2008.02938.x . PMC 2771547 (free full text). PMID 18713229
- ↑ xenon-pharma.com ( Memento of the original from June 8, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ JD Mendez-Rios et al .: Genome sequence of erythromelalgia-related poxvirus identifies it as an ectromelia virus strain . PLoS One (2012) 7 (4): e34604. PMID 22558090
- ↑ a b medicationsense.com ( Memento of the original from August 19, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ erythromelalgia.org ( Memento of the original from July 1, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
