Materiały źródłowe

• #1 Erythromelalgia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557787/

  Erythromelalgia is a rarely occurring disease entity characterized by a triad of erythema, warmth, and recurrent burning pain, most notably affecting the extremities. […] This activity outlines the evaluation of erythromelalgia in addition to highlighting the role of the interprofessional team in managing and treating patients with this condition. […] The diagnosis of erythromelalgia is made with the help of classic signs and symptoms: redness, warmth, and burning pain, most commonly affecting the extremities precipitated by heat or exercise and relieved by cooling. […] The diagnosis of primary erythromelalgia is made by the presence of classic signs/symptoms and screening for mutations in the SCN9A gene. The secondary form of erythromelalgia is diagnosed by ruling out different diseases associated with this condition.

• #2 Erythromelalgia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/91838

  The diagnosis of erythromelalgia is made with the help of classic signs and symptoms: redness, warmth, and burning pain, most commonly affecting the extremities precipitated by heat or exercise and relieved by cooling. […] The diagnosis of primary erythromelalgia is made by the presence of classic signs/symptoms and screening for mutations in the SCN9A gene. The secondary form of erythromelalgia is diagnosed by ruling out different diseases associated with this condition. […] A skin biopsy is usually not performed due to its lack of specificity. However, when performed, subtle decreased epidermal and perivascular nerve density has been observed. […] Electromyography and nerve conduction velocity tests are generally abnormal in patients with erythromelalgia, and these tests provide evidence for the use of medications for neuropathy in patients with erythromelalgia.

• #3 Erythromelalgia | Clinical Gate

  https://clinicalgate.com/erythromelalgia-2/

  Erythromelalgia is a rare condition of the extremities characterized by the triad of redness, warmth, and pain. […] No objective criteria exist for the diagnosis of erythromelalgia, making it difficult to interpret some of the cases reported in the literature. […] The diagnosis is most often clinically based, dependent on the medical history and physical findings, because no objective diagnostic or laboratory tests are available, and because the physical findings of erythromelalgia may be absent owing to the frequently intermittent nature of the condition. […] Different diagnostic criteria have been suggested by different authors. […] Weir Mitchell applied the three inclusion criteria used in the original description of the syndrome: red, hot, and painful extremities. […] Brown added three additional criteria in 1932: induction and exacerbation of symptoms by warming, relief by cooling, and unresponsiveness to therapy.

• #4 Erythromelalgia | Thoracic Key

  https://thoracickey.com/erythromelalgia/

  No objective criteria exist for the diagnosis of erythromelalgia, making it difficult to interpret some of the cases reported in the literature. The diagnosis is most often clinically based, dependent on the medical history and physical findings, because no objective diagnostic or laboratory tests are available, and because the physical findings of erythromelalgia may be absent owing to the frequently intermittent nature of the condition. […] Different diagnostic criteria have been suggested by different authors. Weir Mitchell applied the three inclusion criteria used in the original description of the syndrome: red, hot, and painful extremities. Brown added three additional criteria in 1932: induction and exacerbation of symptoms by warming, relief by cooling, and unresponsiveness to therapy.

• #5 Erythromelalgia | Clinical Gate

  https://clinicalgate.com/erythromelalgia-2/

  The criteria were described as follows: (1) during attacks (bilateral or symmetrical burning pain in hands and feet), affected parts are flushed, congested, and warm; (2) attacks are initiated or aggravated by standing, exercising, or exposing the extremity to temperatures warmer than 34 C; (3) symptoms are relieved by elevation of the extremity or exposure of the extremity to cold; and (4) the condition is refractory to treatment. […] Thompson et al. suggested the following five criteria: (1) burning extremity pain, (2) pain aggravated by warming, (3) pain relieved by cooling, (4) erythema of the affected skin, and (5) increased temperature of the affected skin. […] These five criteria have been used in several publications. […] Lazareth et al. used three major and two of four minor criteria to satisfy the diagnosis.

• #6 Erythromelalgia | Thoracic Key

  https://thoracickey.com/erythromelalgia/

  The criteria were described as follows: (1) during attacks (bilateral or symmetrical burning pain in hands and feet), affected parts are flushed, congested, and warm; (2) attacks are initiated or aggravated by standing, exercising, or exposing the extremity to temperatures warmer than 34 C; (3) symptoms are relieved by elevation of the extremity or exposure of the extremity to cold; and (4) the condition is refractory to treatment. […] Thompson et al. suggested the following five criteria: (1) burning extremity pain, (2) pain aggravated by warming, (3) pain relieved by cooling, (4) erythema of the affected skin, and (5) increased temperature of the affected skin. […] These five criteria have been used in several publications. […] Lazareth et al. used three major and two of four minor criteria to satisfy the diagnosis. Major criteria were paroxysmal pain, burning pain, and redness of affected skin. Minor criteria were typical precipitating factors (heat exposure, effort), typical relieving factors (cold, rest), elevated skin temperature in affected skin, and response of symptoms to acetylsalicylic acid.

• #7 Erythromelalgia | Thoracic Key

  https://thoracickey.com/erythromelalgia/

  The criteria were described as follows: (1) during attacks (bilateral or symmetrical burning pain in hands and feet), affected parts are flushed, congested, and warm; (2) attacks are initiated or aggravated by standing, exercising, or exposing the extremity to temperatures warmer than 34 C; (3) symptoms are relieved by elevation of the extremity or exposure of the extremity to cold; and (4) the condition is refractory to treatment. […] Thompson et al. suggested the following five criteria: (1) burning extremity pain, (2) pain aggravated by warming, (3) pain relieved by cooling, (4) erythema of the affected skin, and (5) increased temperature of the affected skin. […] These five criteria have been used in several publications. […] Lazareth et al. used three major and two of four minor criteria to satisfy the diagnosis. Major criteria were paroxysmal pain, burning pain, and redness of affected skin. Minor criteria were typical precipitating factors (heat exposure, effort), typical relieving factors (cold, rest), elevated skin temperature in affected skin, and response of symptoms to acetylsalicylic acid.

• #8 What Is Erythromelalgia?

  https://www.webmd.com/heart-disease/what-is-erythromelalgia

  Diagnosing Erythromelalgia There are no tests or diagnosing tools available that are specific to erythromelalgia. Instead, your doctor will review your symptoms and observe any active flare-ups. If no active flare-ups are present, then photographic evidence may be needed. Other tests may be conducted to ensure that no other medical conditions are the culprit of your symptoms. These tests include: Blood tests, Genetic testing, Thermography, Imaging tests such as x-rays. Unfortunately, erythromelalgia can be difficult to diagnose. Its episodic nature often leads to delays in receiving a proper diagnosis. Since symptoms may occur later in the day, some doctors recommend taking pictures of the affected areas during flare-ups after operating hours. Alternatively, patients can request an appointment later in the day, if possible, to be evaluated by their doctor. Sometimes, doctors may require patients to exercise or to be immersed in hot water for up to 30 minutes to provoke a flare-up.

• #9 Erythromelalgia – Wikipedia

  https://en.wikipedia.org/wiki/Erythromelalgia

  Erythromelalgia is a difficult condition to diagnose as there are no specific tests available. However, reduced capillary density has been observed microscopically during flaring; and reduced capillary perfusion is noted in the patient. Another test that can be done is to have the patient elevate their legs, and note the reversal (from red to pale) in skin color. Tests done at universities include quantitative sensory nerve testing, laser evoked potentials, sweat testing and epidermal sensory nerve fiber density test (which is an objective test for small fiber sensory neuropathy). Due to the aforementioned factors, patients may face delays in diagnosis. […] Once it has been established that it is not secondary erythromelalgia a programme of management can be put in place. Some diseases present with symptoms similar to erythromelalgia. Complex regional pain syndrome (CRPS), for instance, presents with severe burning pain and redness except these symptoms are often unilateral (versus symmetric) and may be proximal instead of purely or primarily distal. Furthermore, attacks triggered by heat and resolved by cooling are less common with CRPS.

• #10 Erythromelalgia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557787/

  It is important to differentiate between primary and secondary forms of erythromelalgia. […] A skin biopsy is usually not performed due to its lack of specificity. However, when performed, subtle decreased epidermal and perivascular nerve density has been observed. […] Electromyography and nerve conduction velocity tests are generally abnormal in patients with erythromelalgia, and these tests provide evidence for the use of medications for neuropathy in patients with erythromelalgia.

• #11 Erythromelalgia: diagnosis and classification – PubMed

  https://pubmed.ncbi.nlm.nih.gov/10384366/

  Erythromelalgia is not a commonly recognized or diagnosed condition that affects the lower extremities. […] Erythromelalgia is classified as primary or idiopathic if there is no accompanying disease process. Secondary erythromelalgia is associated commonly with myeloproliferative syndrome-related thrombocythemia, and is mostly evident in adult onset of the condition. […] Treatment for adults with erythromelalgia includes a single daily dose of aspirin, but children who have no associated underlying disorder find little to no relief with acetylsalicylic acid.

• #12 2025 ICD-10-CM Diagnosis Code I73.81: Erythromelalgia

  https://www.icd10data.com/ICD10CM/Codes/I00-I99/I70-I79/I73-/I73.81

  I73.81 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. […] A peripheral arterial disease that is characterized by the triad of erythema, burning pain, and increased skin temperature of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being myeloproliferative disorders. […] A rare disorder characterized by periodic inflammation and blockage of the vessels of the extremities, resulting in skin redness, swelling, and burning pain in the affected sites. It may manifest as a primary disorder caused by mutations of the scn9a gene or as a secondary disorder due to hematologic disorders or medication side effects.

• #13 Erythromelalgia: Symptoms, Causes, Treatment

  https://my.clevelandclinic.org/health/diseases/22752-erythromelalgia

  Theres no specific test for diagnosing erythromelalgia. Your healthcare provider reviews your symptoms and examines any active flare-ups or photos of flare-ups. Multiple tests may be necessary to confirm your symptoms and rule out other medical issues. These include: […] Blood tests. […] Genetic testing to check for mutations responsible for the disease. […] Thermography, which uses a special camera to pinpoint differences in skin temperature. […] X-ray or other imaging studies.

• #14 What Is Erythromelalgia?

  https://www.webmd.com/heart-disease/what-is-erythromelalgia

  Diagnosing Erythromelalgia There are no tests or diagnosing tools available that are specific to erythromelalgia. Instead, your doctor will review your symptoms and observe any active flare-ups. If no active flare-ups are present, then photographic evidence may be needed. Other tests may be conducted to ensure that no other medical conditions are the culprit of your symptoms. These tests include: Blood tests, Genetic testing, Thermography, Imaging tests such as x-rays. Unfortunately, erythromelalgia can be difficult to diagnose. Its episodic nature often leads to delays in receiving a proper diagnosis. Since symptoms may occur later in the day, some doctors recommend taking pictures of the affected areas during flare-ups after operating hours. Alternatively, patients can request an appointment later in the day, if possible, to be evaluated by their doctor. Sometimes, doctors may require patients to exercise or to be immersed in hot water for up to 30 minutes to provoke a flare-up.

• #15 Erythromelalgia

  https://dermnetnz.org/topics/erythromelalgia

  How is the diagnosis of erythromelalgia made? Primary erythromelalgia is a clinical diagnosis based on the presence of the triad of recurrent redness, burning pain and warmth of extremities. Family history of erythromelalgia can support a familial primary erythromelalgia versus sporadic cases. There are no specific guidelines for SCN9A genetic testing, but these can be considered in young patients in whom there is a positive family history and when secondary causes have been excluded. Genetic testing may have impact on family planning given 50% probability of heritability of the condition by offspring. […] Investigation for underlying causes is essential to exclude secondary erythromelalgia. Erythromelalgia may be an early sign of polycythaemia (raised red cells) or thrombocythaemia (raised platelets), where symptoms may precede diagnosis of the myeloproliferative disorder by 2.5 years. These diseases are detected by full blood count. Further tests may be necessary.

• #16 Erythromelalgia Workup: Histologic Findings, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/200071-workup

  In patients with thrombocythemia, skin biopsy results have shown arteriolar endothelial cell swelling, with sparing of venules, capillaries, and nerves. Thickening of the vessel wall and narrowing of the lumen occur as a consequence of smooth muscle cell proliferation. Thickened arterioles may contain occlusive thrombi and ultimately may become fibrotic. […] Biopsies from patients with primary erythromelalgia show mild mononuclear perivascular infiltrates with edema, thickened vascular basement membranes, and moderate endothelial swelling. The intimal thickening and thrombi seen in secondary erythromelalgia are lacking. […] A complete blood count (CBC) with differential should be obtained to search for evidence of a myeloproliferative disorder. In particular, it is important to look for a platelet count higher than 600 109/L (600 103 g/L), a hematocrit greater than 50%, or an elevated granulocyte count (with all stages of maturation). Other laboratory results are nonspecific.

• #17 What Is Erythromelalgia?

  https://www.icliniq.com/articles/skin-care/erythromelalgia

  How to Diagnose Erythromelalgia? The diagnosis of erythromelalgia involves a thorough evaluation of classical triad symptoms and signs. It is advisable to take photographs of the affected region during the episode of symptoms. Primary erythromelalgia is diagnosed by screening the mutation of gene SCN94. A complete blood count examination is done to rule out myeloproliferative disorder and cellulitis. Serology is also done. Bone scanning is done in the case of trauma. Electromyography and nerve conduction tests are also considered. […] Various diagnoses include: A physical examination of the patient to evaluate classic signs. Proper personal history. Complete blood count (CBC) Serological tests for antinuclear antibody(ANA) and human immunodeficiency virus(HIV). Rheumatoid factor(RF) for systemic lupus erythematosus(SLE). Blood uric acid level for gout. Triple-phase technetium bone scanning for the history of trauma. Electromyography. Nerve conduction velocity test(NCV).

• #18 What Is Erythromelalgia?

  https://www.icliniq.com/articles/skin-care/erythromelalgia

  How to Diagnose Erythromelalgia? The diagnosis of erythromelalgia involves a thorough evaluation of classical triad symptoms and signs. It is advisable to take photographs of the affected region during the episode of symptoms. Primary erythromelalgia is diagnosed by screening the mutation of gene SCN94. A complete blood count examination is done to rule out myeloproliferative disorder and cellulitis. Serology is also done. Bone scanning is done in the case of trauma. Electromyography and nerve conduction tests are also considered. […] Various diagnoses include: A physical examination of the patient to evaluate classic signs. Proper personal history. Complete blood count (CBC) Serological tests for antinuclear antibody(ANA) and human immunodeficiency virus(HIV). Rheumatoid factor(RF) for systemic lupus erythematosus(SLE). Blood uric acid level for gout. Triple-phase technetium bone scanning for the history of trauma. Electromyography. Nerve conduction velocity test(NCV).

• #19 Erythromelalgia

  https://dermnetnz.org/topics/erythromelalgia

  How is the diagnosis of erythromelalgia made? Primary erythromelalgia is a clinical diagnosis based on the presence of the triad of recurrent redness, burning pain and warmth of extremities. Family history of erythromelalgia can support a familial primary erythromelalgia versus sporadic cases. There are no specific guidelines for SCN9A genetic testing, but these can be considered in young patients in whom there is a positive family history and when secondary causes have been excluded. Genetic testing may have impact on family planning given 50% probability of heritability of the condition by offspring. […] Investigation for underlying causes is essential to exclude secondary erythromelalgia. Erythromelalgia may be an early sign of polycythaemia (raised red cells) or thrombocythaemia (raised platelets), where symptoms may precede diagnosis of the myeloproliferative disorder by 2.5 years. These diseases are detected by full blood count. Further tests may be necessary.

• #20 Primary erythromelalgia: a review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0347-1

  The diagnosis of PE depends on clinical history and physical examinations. Triad of recurrent redness, burning pain, and warmth of the extremities is the diagnostic hallmark of erythromelalgia. […] Auxiliary tests such as complete blood count, imaging studies and thermograph can be given for exclusion of other differential diagnoses and secondary erythromelalgia. […] Since biologic markers for PE are not established, a full diagnosis of PE should be carefully made upon the combination of clinical exam findings and detection of a mutation on SCN9A. […] In the absence of general guidelines for SCN9A mutation testing, genetic tests can be considered in young patients with positive family history and with secondary etiologies excluded.

• #21 Erythromelalgia

  https://dermnetnz.org/topics/erythromelalgia

  How is the diagnosis of erythromelalgia made? Primary erythromelalgia is a clinical diagnosis based on the presence of the triad of recurrent redness, burning pain and warmth of extremities. Family history of erythromelalgia can support a familial primary erythromelalgia versus sporadic cases. There are no specific guidelines for SCN9A genetic testing, but these can be considered in young patients in whom there is a positive family history and when secondary causes have been excluded. Genetic testing may have impact on family planning given 50% probability of heritability of the condition by offspring. […] Investigation for underlying causes is essential to exclude secondary erythromelalgia. Erythromelalgia may be an early sign of polycythaemia (raised red cells) or thrombocythaemia (raised platelets), where symptoms may precede diagnosis of the myeloproliferative disorder by 2.5 years. These diseases are detected by full blood count. Further tests may be necessary.

• #22 Erythromelalgia – Heart and Blood Vessel Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/heart-and-blood-vessel-disorders/peripheral-arterial-disease/erythromelalgia

  Erythromelalgia usually develops 2 to 3 years before another underlying disorder is diagnosed. […] Diagnosis of erythromelalgia is based on the symptoms and the increase in skin temperature. Tests, such as blood cell counts, are usually done to help identify a underlying disorders. Genetic testing can confirm a diagnosis of hereditary erythromelalgia in a person who has onset of symptoms in childhood. Affected people should receive genetic counseling because there is a 50% chance they will pass the disorder onto their children.

• #23 Erythromelalgia: A Very Rare Condition

  https://www.verywellhealth.com/erythromelalgia-overview-4582735

  There is no definitive testing for EM. This condition has been traditionally diagnosed based on the symptoms and ruling out other possible causes. […] Tests may be done to rule out other conditions, including blood work and imaging. Children with symptoms of primary EM and a family history of the disease may also be tested for genetic evidence of the SCN9A mutation. […] Currently, gene sequencing has become the gold standard for the diagnosis of erythromelalgia. But some people who have the condition do not have the associated gene abnormalities.

• #24

  https://dpcj.org/index.php/dpc/article/view/3049

  Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. […] The diagnosis and treatment of EM remain challenging. Patients with this condition display a wide spectrum of clinical manifestations and severity, as well as a paucity of resources and structures to support them. […] A variety of medications were tried in all our patients to alleviate symptoms, but their efficacy was variable, partial and/or transitory. The most effective therapies were antihistamines, venlafaxine, and mexiletine. […] Dermatologists are often the specialists these patients turn to for assistance. […] To propose a diagnostic algorithm with therapeutic implications. […] Mutations in the SCN9A gene are not always detected.

• #25 Erythromelalgia Workup: Histologic Findings, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/200071-workup

  No specific findings are present on plain radiography of the feet and hands. Triple-phase technetium bone scanning is warranted for patients with a history of trauma or stroke and those in whom complex regional pain syndrome type 1 (reflex sympathetic dystrophy) is a strong possibility (particularly if the symptoms are unilateral). […] Thermography reveals elevated skin temperatures in the affected areas, but this finding is not necessary to establish the diagnosis. Striking differences in surface temperature can occur between involved and uninvolved areas.

• #26 Erythromelalgia: Symptoms, Causes, Treatment

  https://my.clevelandclinic.org/health/diseases/22752-erythromelalgia

  Theres no specific test for diagnosing erythromelalgia. Your healthcare provider reviews your symptoms and examines any active flare-ups or photos of flare-ups. Multiple tests may be necessary to confirm your symptoms and rule out other medical issues. These include: […] Blood tests. […] Genetic testing to check for mutations responsible for the disease. […] Thermography, which uses a special camera to pinpoint differences in skin temperature. […] X-ray or other imaging studies.

• #27 Erythromelalgia Workup: Histologic Findings, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/200071-workup

  No specific findings are present on plain radiography of the feet and hands. Triple-phase technetium bone scanning is warranted for patients with a history of trauma or stroke and those in whom complex regional pain syndrome type 1 (reflex sympathetic dystrophy) is a strong possibility (particularly if the symptoms are unilateral). […] Thermography reveals elevated skin temperatures in the affected areas, but this finding is not necessary to establish the diagnosis. Striking differences in surface temperature can occur between involved and uninvolved areas.

• #28 What Is Erythromelalgia?

  https://www.icliniq.com/articles/skin-care/erythromelalgia

  How to Diagnose Erythromelalgia? The diagnosis of erythromelalgia involves a thorough evaluation of classical triad symptoms and signs. It is advisable to take photographs of the affected region during the episode of symptoms. Primary erythromelalgia is diagnosed by screening the mutation of gene SCN94. A complete blood count examination is done to rule out myeloproliferative disorder and cellulitis. Serology is also done. Bone scanning is done in the case of trauma. Electromyography and nerve conduction tests are also considered. […] Various diagnoses include: A physical examination of the patient to evaluate classic signs. Proper personal history. Complete blood count (CBC) Serological tests for antinuclear antibody(ANA) and human immunodeficiency virus(HIV). Rheumatoid factor(RF) for systemic lupus erythematosus(SLE). Blood uric acid level for gout. Triple-phase technetium bone scanning for the history of trauma. Electromyography. Nerve conduction velocity test(NCV).

• #29 Erythromelalgia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557787/

  It is important to differentiate between primary and secondary forms of erythromelalgia. […] A skin biopsy is usually not performed due to its lack of specificity. However, when performed, subtle decreased epidermal and perivascular nerve density has been observed. […] Electromyography and nerve conduction velocity tests are generally abnormal in patients with erythromelalgia, and these tests provide evidence for the use of medications for neuropathy in patients with erythromelalgia.

• #30 Erythromelalgia: a cutaneous manifestation of neuropathy?* | Anais Brasileiros de Dermatologia

  http://www.anaisdedermatologia.org.br/en-erythromelalgia-cutaneous-manifestation-neuropathy-articulo-S0365059620303676

  The low prevalence of erythromelalgia, classified as an orphan disease, poses diagnostic and therapeutic difficulties. […] The diagnosis is based on exhaustive clinical history and physical examination. […] Because of the complexity of its pathogenesis, erythromelalgia should always be included in the differential diagnosis of conditions that cause chronic pain and/or peripheral edema. […] There are controversies regarding the accepted diagnostic criteria since not all cases are included. […] A complete clinical study of the patient would make possible to discriminate between a primary or secondary disorder rendering easier the differential diagnosis. […] The positive test using warmth exposure is frankly positive when the patient describes the symptoms at 32-36C range. […] The neurological study and the electromyography are indispensable to rule out peripheral neuropathies of other etiologies.

• #31 Erythromelalgia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557787/

  It is important to differentiate between primary and secondary forms of erythromelalgia. […] A skin biopsy is usually not performed due to its lack of specificity. However, when performed, subtle decreased epidermal and perivascular nerve density has been observed. […] Electromyography and nerve conduction velocity tests are generally abnormal in patients with erythromelalgia, and these tests provide evidence for the use of medications for neuropathy in patients with erythromelalgia.

• #32 Erythromelalgia Workup: Histologic Findings, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/200071-workup

  In patients with thrombocythemia, skin biopsy results have shown arteriolar endothelial cell swelling, with sparing of venules, capillaries, and nerves. Thickening of the vessel wall and narrowing of the lumen occur as a consequence of smooth muscle cell proliferation. Thickened arterioles may contain occlusive thrombi and ultimately may become fibrotic. […] Biopsies from patients with primary erythromelalgia show mild mononuclear perivascular infiltrates with edema, thickened vascular basement membranes, and moderate endothelial swelling. The intimal thickening and thrombi seen in secondary erythromelalgia are lacking. […] A complete blood count (CBC) with differential should be obtained to search for evidence of a myeloproliferative disorder. In particular, it is important to look for a platelet count higher than 600 109/L (600 103 g/L), a hematocrit greater than 50%, or an elevated granulocyte count (with all stages of maturation). Other laboratory results are nonspecific.

• #33 Erythromelalgia Workup: Histologic Findings, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/200071-workup

  In patients with thrombocythemia, skin biopsy results have shown arteriolar endothelial cell swelling, with sparing of venules, capillaries, and nerves. Thickening of the vessel wall and narrowing of the lumen occur as a consequence of smooth muscle cell proliferation. Thickened arterioles may contain occlusive thrombi and ultimately may become fibrotic. […] Biopsies from patients with primary erythromelalgia show mild mononuclear perivascular infiltrates with edema, thickened vascular basement membranes, and moderate endothelial swelling. The intimal thickening and thrombi seen in secondary erythromelalgia are lacking. […] A complete blood count (CBC) with differential should be obtained to search for evidence of a myeloproliferative disorder. In particular, it is important to look for a platelet count higher than 600 109/L (600 103 g/L), a hematocrit greater than 50%, or an elevated granulocyte count (with all stages of maturation). Other laboratory results are nonspecific.

• #34 Erythromelalgia

  https://dermnetnz.org/topics/erythromelalgia

  Diagnosis is based fairly much on the clinical picture, hence is often difficult because of the intermittent nature of the disease. Provided the patient gives a good description of their symptoms, a tentative diagnosis may be made. If in doubt, a trial of immersing an affected area in hot water for 10-30 minutes may sometimes provoke an attack and support the diagnosis.

• #35 Erythromelalgia: a cutaneous manifestation of neuropathy?* | Anais Brasileiros de Dermatologia

  http://www.anaisdedermatologia.org.br/en-erythromelalgia-cutaneous-manifestation-neuropathy-articulo-S0365059620303676

  The low prevalence of erythromelalgia, classified as an orphan disease, poses diagnostic and therapeutic difficulties. […] The diagnosis is based on exhaustive clinical history and physical examination. […] Because of the complexity of its pathogenesis, erythromelalgia should always be included in the differential diagnosis of conditions that cause chronic pain and/or peripheral edema. […] There are controversies regarding the accepted diagnostic criteria since not all cases are included. […] A complete clinical study of the patient would make possible to discriminate between a primary or secondary disorder rendering easier the differential diagnosis. […] The positive test using warmth exposure is frankly positive when the patient describes the symptoms at 32-36C range. […] The neurological study and the electromyography are indispensable to rule out peripheral neuropathies of other etiologies.

• #36 Erythromelalgia – Wikipedia

  https://en.wikipedia.org/wiki/Erythromelalgia

  Erythromelalgia is sometimes caused by other disorders. A partial list of diseases known to precipitate erythromelalgia is below. […] Erythromelalgia is a difficult condition to diagnose as there are no specific tests available. However, reduced capillary density has been observed microscopically during flaring; and reduced capillary perfusion is noted in the patient. Another test that can be done is to have the patient elevate their legs, and note the reversal (from red to pale) in skin color. Tests done at universities include quantitative sensory nerve testing, laser evoked potentials, sweat testing and epidermal sensory nerve fiber density test (which is an objective test for small fiber sensory neuropathy). Due to the aforementioned factors, patients may face delays in diagnosis.

• #37 Erythromelalgia – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/peripheral-arterial-disorders/erythromelalgia

  Diagnosis of erythromelalgia is clinical. Testing is done to detect causes. Because erythromelalgia may precede a myeloproliferative disorder by several years, repeated blood counts may be indicated. […] Differential diagnosis includes posttraumatic reflex dystrophies, shoulder-hand syndrome, peripheral neuropathy, causalgia, Fabry disease, and bacterial cellulitis.

• #38 Erythromelalgia – Wikipedia

  https://en.wikipedia.org/wiki/Erythromelalgia

  Erythromelalgia is a difficult condition to diagnose as there are no specific tests available. However, reduced capillary density has been observed microscopically during flaring; and reduced capillary perfusion is noted in the patient. Another test that can be done is to have the patient elevate their legs, and note the reversal (from red to pale) in skin color. Tests done at universities include quantitative sensory nerve testing, laser evoked potentials, sweat testing and epidermal sensory nerve fiber density test (which is an objective test for small fiber sensory neuropathy). Due to the aforementioned factors, patients may face delays in diagnosis. […] Once it has been established that it is not secondary erythromelalgia a programme of management can be put in place. Some diseases present with symptoms similar to erythromelalgia. Complex regional pain syndrome (CRPS), for instance, presents with severe burning pain and redness except these symptoms are often unilateral (versus symmetric) and may be proximal instead of purely or primarily distal. Furthermore, attacks triggered by heat and resolved by cooling are less common with CRPS.

• #39 Erythromelalgia – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/peripheral-arterial-disorders/erythromelalgia

  Diagnosis of erythromelalgia is clinical. Testing is done to detect causes. Because erythromelalgia may precede a myeloproliferative disorder by several years, repeated blood counts may be indicated. […] Differential diagnosis includes posttraumatic reflex dystrophies, shoulder-hand syndrome, peripheral neuropathy, causalgia, Fabry disease, and bacterial cellulitis.

• #40 Orphanet: Primary erythromelalgia

  https://www.orpha.net/en/disease/detail/90026

  Differential diagnosis includes erythromelalgia and secondary erythermalgia. In erythromelalgia, the burning pain and red congestion are usually unilateral or asymmetrically distributed with preferential involvement of one or more toes, the forefoot soles or fingertips. The platelet count is always elevated 400 x 10 9/L, and aspirin relieves symptoms. Secondary erythermalgia is acquired, mostly develops at a later age and is invariably linked with the use of drugs or underlying disease (vasculitis, neuropathy). In contrast to erythromelalgia, the platelet count in both secondary and inherited primary erythermalgia is normal.

• #41 Erythromelalgia | Clinical Gate

  https://clinicalgate.com/erythromelalgia-2/

  Erythromelalgia is a rare condition of the extremities characterized by the triad of redness, warmth, and pain. […] No objective criteria exist for the diagnosis of erythromelalgia, making it difficult to interpret some of the cases reported in the literature. […] The diagnosis is most often clinically based, dependent on the medical history and physical findings, because no objective diagnostic or laboratory tests are available, and because the physical findings of erythromelalgia may be absent owing to the frequently intermittent nature of the condition. […] Different diagnostic criteria have been suggested by different authors. […] Weir Mitchell applied the three inclusion criteria used in the original description of the syndrome: red, hot, and painful extremities. […] Brown added three additional criteria in 1932: induction and exacerbation of symptoms by warming, relief by cooling, and unresponsiveness to therapy.

• #42 Erythromelalgia – Clinical Tree

  https://clinicalpub.com/erythromelalgia/

  No objective criteria exist for the diagnosis of erythromelalgia, making it difficult to interpret some of the cases reported in the literature. […] The diagnosis is most often clinically based, dependent on the medical history and physical findings, because no objective diagnostic or laboratory tests are available and because the physical findings of erythromelalgia may be absent owing to the frequently intermittent nature of the condition. […] Different diagnostic criteria have been suggested by different authors. […] The criteria were described as follows: (1) during attacks (bilateral or symmetrical burning pain in hands and feet), affected parts are flushed, congested, and warm; (2) attacks are initiated or aggravated by standing, exercising, or exposing the extremity to temperatures warmer than 34C; (3) symptoms are relieved by elevation of the extremity or exposure of the extremity to cold; and (4) the condition is refractory to treatment.

• #43 Primary erythromelalgia | Healthengine Blog

  https://healthinfo.healthengine.com.au/primary-erythromelalgia

  How is Primary erythromelalgia Diagnosed? The doctor may perform a blood test to rule out erythromelalgia occuring as a result of bone marrow disorders. […] The average time between the start of symptoms and diagnosis is 5.6 years. This is due to delays by patients and doctors (absence of symptoms when patients present in between attacks, therefore resulting in difficulty in diagnosis).

• #44 Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review | Pediatric Research

  https://www.nature.com/articles/s41390-025-03817-4

  Erythromelalgia is a rare, chronic pain disorder characterized by the triad of intense burning sensation, warmth, and redness, primarily involving the hands and feet, and usually alleviated by cold and worsened by heat. […] The objective of this scoping review was to: 1) map the existing literature on erythromelalgia in youth, 2) identify knowledge gaps, and 3) inform directions for future research in pediatric erythromelalgia. […] Variability was found in reporting of clinical symptoms, the clinical presentations and diagnostic criteria used for classification of erythromelalgia, the clinical assessments and investigations performed, and the types of interventions and management plans utilized. […] While factors to aid early recognition and optimize management have been identified, there are also significant gaps for future research to address.

• #45 What Is Erythromelalgia?

  https://www.webmd.com/heart-disease/what-is-erythromelalgia

  Diagnosing Erythromelalgia There are no tests or diagnosing tools available that are specific to erythromelalgia. Instead, your doctor will review your symptoms and observe any active flare-ups. If no active flare-ups are present, then photographic evidence may be needed. Other tests may be conducted to ensure that no other medical conditions are the culprit of your symptoms. These tests include: Blood tests, Genetic testing, Thermography, Imaging tests such as x-rays. Unfortunately, erythromelalgia can be difficult to diagnose. Its episodic nature often leads to delays in receiving a proper diagnosis. Since symptoms may occur later in the day, some doctors recommend taking pictures of the affected areas during flare-ups after operating hours. Alternatively, patients can request an appointment later in the day, if possible, to be evaluated by their doctor. Sometimes, doctors may require patients to exercise or to be immersed in hot water for up to 30 minutes to provoke a flare-up.

• #46 Erythromelalgia | Thoracic Key

  https://thoracickey.com/erythromelalgia/

  Drenth et al. distinguished three types of red, congested, and painful conditions of the extremities that must be distinguished for effective treatment according to their cause: (1) erythromelalgia in thrombocythemia, (2) primary erythermalgia, and (3) secondary erythermalgia. […] Making the diagnosis is often a problem because objective findings may not be present during the physical examination, so the diagnosis may rest on history alone. However, because the differential diagnosis includes many possibilities, it is best to have evidence to support the diagnosis. […] Examine and assess the patient both during an episode and between episodes. Ask the patient to engage in an activity, such as climbing stairs, that will precipitate an episode. […] If it is not possible to examine a patient during an episode, ask the patient to obtain a photograph of the affected areas during an episode.

• #47 Erythromelalgia – CheckOrphan

  https://checkorphan.org/disease/erythromelalgia/

  Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. […] There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.

• #48 Erythromelalgia – CheckOrphan

  https://checkorphan.org/disease/erythromelalgia/

  Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. […] There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.

• #49 Erythromelalgia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/91838

  The diagnosis of erythromelalgia is made with the help of classic signs and symptoms: redness, warmth, and burning pain, most commonly affecting the extremities precipitated by heat or exercise and relieved by cooling. […] The diagnosis of primary erythromelalgia is made by the presence of classic signs/symptoms and screening for mutations in the SCN9A gene. The secondary form of erythromelalgia is diagnosed by ruling out different diseases associated with this condition. […] A skin biopsy is usually not performed due to its lack of specificity. However, when performed, subtle decreased epidermal and perivascular nerve density has been observed. […] Electromyography and nerve conduction velocity tests are generally abnormal in patients with erythromelalgia, and these tests provide evidence for the use of medications for neuropathy in patients with erythromelalgia.

• #50 Erythromelalgia (Erythermalgia) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/erythromelalgia-erythermalgia/

  Erythromelalgia was first described by Mitchell in 1878. […] Drenth and Michiels created the set of diagnostic criteria for primary erythromelalgia in 1994. It includes: (1) attacks of bilateral or symmetrical burning pain in the hands or feet; (2) initiation or aggravation of attacks by standing, exercise, or exposure to heat; (3) relief by elevation and cold; (4) warmth, flushedness, and congestion of the affected parts during attacks; and (5) the disorders being refractory to treatment. […] For primary erythromelalgia, mutations of SCN9A gene should be strong evidence for diagnosis. This can be performed using a blood sample in several labs around the world. […] The differential diagnosis includes: […] Erythromelalgia is a rare disorder; the diagnosis may be missed or delayed for years. In some atypical cases, laboratory studies (genetic testing and ruling out secondary causes, combined with vascular studies) can be helpful.

• #51 Erythromelalgia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557787/

  Erythromelalgia is a rarely occurring disease entity characterized by a triad of erythema, warmth, and recurrent burning pain, most notably affecting the extremities. […] This activity outlines the evaluation of erythromelalgia in addition to highlighting the role of the interprofessional team in managing and treating patients with this condition. […] The diagnosis of erythromelalgia is made with the help of classic signs and symptoms: redness, warmth, and burning pain, most commonly affecting the extremities precipitated by heat or exercise and relieved by cooling. […] The diagnosis of primary erythromelalgia is made by the presence of classic signs/symptoms and screening for mutations in the SCN9A gene. The secondary form of erythromelalgia is diagnosed by ruling out different diseases associated with this condition.

• #52 Erythromelalgia – MD Searchlight

  https://mdsearchlight.com/blood-disorders/erythromelalgia/

  Erythromelalgia is a rare condition that leads to redness, warmth, and a burning sensation, often affecting the arms and legs. […] When diagnosing this condition, doctors may ask about your history of fever, recent injuries, joint pain, skin and mouth sores, as well as check your blood pressure and any medications you’re taking. This helps to rule out other potential causes like cellulitis, systemic lupus erythematosus (SLE), and rheumatoid arthritis. […] When doctors suspect erythromelalgia, a condition that causes episodes of redness, warmth, and burning pain usually in the hands or feet, they look for classic signs and symptoms. […] To diagnose primary erythromelalgia, doctors will look for the typical symptoms and may also test for specific genetic mutations in a gene called SCN9A.

• #53 Secondary erythromelalgia – case report | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-secondary-erythromelalgia-case-report-articulo-S1578219020303371

  The classification of this condition varies among authors, but essentially there are primary forms, which can be further divided into familial or sporadic of early (juvenile) or late (adult) onset, and secondary forms. […] In the absence of a confirmatory diagnostic test, diagnosis is based on a careful history and supported by physical examination during the episodes and, once a diagnosis is established, potential secondary causes must be excluded. […] In our case the patient presented initially with non-specific clinical and histological pictures. The diagnosis of erythromelalgia was only established after the detection of polycythemia vera and the exacerbation of the symptomatology, with the characteristic triad of erythema, hyperthermia and pain with intense burning. […] Erythromelalgia is a rare heterogeneous disorder with a variable spectrum of severity and should be considered in patients with paroxysmal neuropathic pain. It is probably underdiagnosed and its early recognition is crucial to minimize the impact on patients quality of life.

• #54 Erythromelalgia – UpToDate

  https://www.uptodate.com/contents/erythromelalgia

  Erythromelalgia is a rare, acquired or (very rarely) inherited clinical syndrome of intermittently red, hot, painful extremities. […] The epidemiology, clinical features, diagnosis, and management of erythromelalgia will be reviewed here. […] There is no cure for erythromelalgia; therefore, treatment is focused on improving symptoms. Many patients can be successfully managed with behavioral interventions, topical medications, and aspirin. Other interventions may be beneficial when these measures are insufficient.

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