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Specialty scores for Erythromelalgia
Erythromelalgia is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are periodically blocked, then become hyperemic and inflamed, giving rise to burning pain, warmth, swelling and redness in affected parts of the body, particularly the hands and feet. The symptomatic attacks are episodic and are commonly precipitated by heat, pressure, exertion, mild activity, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Erythromelalgia is the first human disorder in which it has been possible to formulate association of ion channel mutation with chronic neuropathic pain.
The name of this erythromelalgia is derived from three Greek words: erythros (red), melos (limb), and algos (pain). The disease was first described by Mitchell in the 1870s & was further categorized by Smith and Allen in 1938.
About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The gene encodes part of a sodium channel which carries sodium into cells and helps participate in the process of transmission of electrical signals. These sodium channels are present in nerve cells that are responsible for transmission of pain signals to the spine and brain. Mutations that cause erythromelalgia lead to increased transmission of pain signals, giving rise to the signs and symptoms of the condition. Secondary erythromelalgia can be caused due to polycythemia vera, essential thrombocytosis, hypercholesterolemia, mushroom poisoning, mercury poisoning, and some autoimmune disorders. Secondary form of the disease may also be precipitated by obstructive sleep apnea, sciatica, myeloproliferative disease, fabry's disease, and small fiber peripheral neuropathy. Some medications, such as fluoroquinolones, pergolide, verapamil, bromocriptine, and ticlopidine are also associated with causing erythromelalgia. Disorders associated with erythromelalgia also include systemic lupus erythematosus (SLE), diabetes mellitus, HIV infection, venous insufficiency, gout, astrocytoma & rheumatoid arthritis.
Factors ascertained to contribute to primary erythromelalgia include postganglionic sympathetic dysfunction, hypersensitivity of C-fibers & maldistribution of skin perfusion leading to imbalance between thermoregulatory and nutritive perfusion.
Signs and symptoms:
Notable signs and symptoms of erythromelalgia include episodes of erythema (redness), swelling, burning sensation, painful of the soft tissue (usually either radiating or shooting in nature) and tenderness, primarily in the extremities. These symptoms are usually symmetric in distribution and tend to affect the lower extremities more often than the upper extremities. Symptoms have also been known to affect the ears and face.
For the cases of secondary erythromelalgia, attacks are known to precede the underlying primary condition. In the cases of primary erythromelalgia, attacks can last from an hour to months at one go and can even occur multiple times daily. Common triggers for these symptomatic episodes are physical exertion, raised temperature of the affected extremities, alcohol intake, caffeine consumption, and any pressure applied to the limbs. In some patients, consumption of sugar, and even melon, has been known to precipitate an attack.
Patients typically avoid wearing shoes or socks as the generated heat is known to produce erythromelalgia attacks. Raynaud's phenomenon is found to be associated in many patients with Erythromelalgia. Symptoms may present gradually sometimes taking years to become severe enough for patients to seek medical care. In less number of cases symptoms emerge with their full intensity at the onset.
Signs and symptoms also include blurred vision, diarrhea, constipation, jaw pain, hyperhidrosis, keratoconjunctivitis sicca, myalgia, palpitations, dryness of mouth and muscular abnormalities. Complications of erythromelalgia include necrosis, ulceration, and gangrene of affected extremities. Digital necrosis or ulceration with secondary infection can lead to amputation.
Formulating a diagnosis usually relies on the medical history and clinical examination to carefully observe the signs and symptoms. In case a diagnosis is suspected, investigations may be carried out to rule out other conditions and form the definitive diagnosis.
Complete blood count (CBC) with differential can help rule out the possibility of a myeloproliferative disorder. Thermography may reveal elevated skin temperature in affected regions of the body. Biopsy studies may yield characteristic findings in patients with primary erythromelalgia. Genetic testing helps formulate the definitive diagnosis of primary erythromelalgia. Autoimmune panel testing, lipid profile may help rule out some of the secondary causes of the disease. A variety of specialists may be involved in the process of diagnosis and treatment. These may include dermatologists, vascular specialists, neurologists, hematologists, immunologists, rheumatologists, or other types of physicians.
For secondary erythromelalgia, treating the underlying primary disorder is the definitive method of treatment. Mechanical cooling of the limbs by elevating them and taking out the compressive clothing can help. Ambient environment needs to be managed frequently for the temperature control as flares occur due to sympathetic autonomic dysfunction of the capillaries. The pain that accompanies the disease is severe and mimics pain due to CRPS, phantom limb or thalamic pain syndrome. Patients are strongly discouraged placing the affected limbs in cold water to relieve symptoms. It precipitates problems further by causing skin damage and ulceration. Enclosing the affected, flaring limb in a thin, heat transparent, water impermeable, plastic bag may be advised in certain cases. In patients with myeloproliferative disorders, chemotherapy may help with reduction in the platelet count, reducing the severity of the symptoms, but it is not universally effective. Patients with polycythemia vera may be subjcted to phlebotomy & hematology consultation must always be sought after in such cases.
Symptomatic treatment is followed for the cases of primary erythromelalgia. Patients are instructed to avoid the triggers such as: heat, temperature change, exercise or over exertion, alcohol and spicy foods. In some cases drugs such as duloxetine, pregabalin, antihistaminics and topical ketamine creams may give some relief. In a hard hitting possibility, most people with erythromelalgia never go into remission and the symptoms remain present at some level, whilst others get worse. Living with erythromelalgia can lead to deterioration in quality of life resulting in the functional limitation in work place, lack of mobility, and attacks of depression. For thrombocytosis related erythromelalgia, aspirin is usually the medication of choice. Other nonsteroidal anti-inflammatory drugs (NSAIDs) may provide pain control of short duration. Oral medications also include calcium antagonists, tricyclic antidepressants, selective serotonin reuptake inhibitors, gabapentin or carbamazepine, clonazepam, misoprostol, cyproheptadine, and others. Anagrelide is also used as an alternative in many cases. Surgical options only exist to treat the rare complication of gangrene.