Intravenous immunoglobulin therapy in erythromelalgia management: a case report
ABSTRACT A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to im...
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Instituto Israelita de Ensino e Pesquisa Albert Einstein
2025-03-01
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| author | Renato Ádler Pomilio de Sousa Luydson Richardson Silva Vasconcelos Marcus Villander Barros de Oliveira Sá |
| author_facet | Renato Ádler Pomilio de Sousa Luydson Richardson Silva Vasconcelos Marcus Villander Barros de Oliveira Sá |
| author_sort | Renato Ádler Pomilio de Sousa |
| collection | DOAJ |
| description | ABSTRACT A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to impaired quality of life and mental health. Eventually, a six-month course of intravenous immunoglobulin therapy provided complete relief, allowing the patient to resume normal activities. Erythromelalgia is a rare neurovascular condition characterized by pain, warmth, and erythema in the extremities. It can manifest as primary, inherited or sporadic, or secondary to underlying conditions, such as hematological neoplasms. Although genetic studies suggest a pivotal role of a gain-of-function mutation in the Nav1.7 voltage-gated sodium channel in familial cases, the pathogenesis underlying sporadic adult-onset cases remains uncertain. The frequent coexistence of autoimmune connective tissue diseases and the expanding evidence supporting immunotherapies in idiopathic small-fiber neuropathies underscores the possible involvement of adaptive immunity in such conditions. Given the potential complications in untreated patients, risks associated with long-term opioid therapy, and the absence of disease-modifying strategies, intravenous immunoglobulins may offer a more effective approach to pain control than conventional pain relievers, representing a promising direction for understanding the pathogenesis of erythromelalgia. |
| format | Article |
| id | doaj-art-597e451b62e34db3a9a2fb57b5297bf5 |
| institution | DOAJ |
| issn | 2317-6385 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Instituto Israelita de Ensino e Pesquisa Albert Einstein |
| record_format | Article |
| series | Einstein (São Paulo) |
| spelling | doaj-art-597e451b62e34db3a9a2fb57b5297bf52025-08-20T03:15:56ZengInstituto Israelita de Ensino e Pesquisa Albert EinsteinEinstein (São Paulo)2317-63852025-03-012310.31744/einstein_journal/2025rc1236Intravenous immunoglobulin therapy in erythromelalgia management: a case reportRenato Ádler Pomilio de Sousahttps://orcid.org/0009-0006-2276-5081Luydson Richardson Silva Vasconceloshttps://orcid.org/0000-0002-1625-3358Marcus Villander Barros de Oliveira Sáhttps://orcid.org/0000-0003-1257-6958ABSTRACT A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to impaired quality of life and mental health. Eventually, a six-month course of intravenous immunoglobulin therapy provided complete relief, allowing the patient to resume normal activities. Erythromelalgia is a rare neurovascular condition characterized by pain, warmth, and erythema in the extremities. It can manifest as primary, inherited or sporadic, or secondary to underlying conditions, such as hematological neoplasms. Although genetic studies suggest a pivotal role of a gain-of-function mutation in the Nav1.7 voltage-gated sodium channel in familial cases, the pathogenesis underlying sporadic adult-onset cases remains uncertain. The frequent coexistence of autoimmune connective tissue diseases and the expanding evidence supporting immunotherapies in idiopathic small-fiber neuropathies underscores the possible involvement of adaptive immunity in such conditions. Given the potential complications in untreated patients, risks associated with long-term opioid therapy, and the absence of disease-modifying strategies, intravenous immunoglobulins may offer a more effective approach to pain control than conventional pain relievers, representing a promising direction for understanding the pathogenesis of erythromelalgia.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082025000100504&lng=en&tlng=enErythromelalgiaImmunoglobulins, intravenousSmall fiber neuropathyAutoimmune diseasesNAV1.7 Voltage-gated sodium channel |
| spellingShingle | Renato Ádler Pomilio de Sousa Luydson Richardson Silva Vasconcelos Marcus Villander Barros de Oliveira Sá Intravenous immunoglobulin therapy in erythromelalgia management: a case report Einstein (São Paulo) Erythromelalgia Immunoglobulins, intravenous Small fiber neuropathy Autoimmune diseases NAV1.7 Voltage-gated sodium channel |
| title | Intravenous immunoglobulin therapy in erythromelalgia management: a case report |
| title_full | Intravenous immunoglobulin therapy in erythromelalgia management: a case report |
| title_fullStr | Intravenous immunoglobulin therapy in erythromelalgia management: a case report |
| title_full_unstemmed | Intravenous immunoglobulin therapy in erythromelalgia management: a case report |
| title_short | Intravenous immunoglobulin therapy in erythromelalgia management: a case report |
| title_sort | intravenous immunoglobulin therapy in erythromelalgia management a case report |
| topic | Erythromelalgia Immunoglobulins, intravenous Small fiber neuropathy Autoimmune diseases NAV1.7 Voltage-gated sodium channel |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082025000100504&lng=en&tlng=en |
| work_keys_str_mv | AT renatoadlerpomiliodesousa intravenousimmunoglobulintherapyinerythromelalgiamanagementacasereport AT luydsonrichardsonsilvavasconcelos intravenousimmunoglobulintherapyinerythromelalgiamanagementacasereport AT marcusvillanderbarrosdeoliveirasa intravenousimmunoglobulintherapyinerythromelalgiamanagementacasereport |