Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal
Introduction: Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life leading to severe disability. SCN9A mutations can be the cause of the disease. D...
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| Format: | Article |
| Language: | English |
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Mattioli1885
2023-07-01
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| Series: | Dermatology Practical & Conceptual |
| Subjects: | |
| Online Access: | http://dpcj.org/index.php/dpc/article/view/3049 |
| _version_ | 1797756374562635776 |
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| author | Andrea Michelerio Carlo Tomasini Eloisa Arbustini Camilla Vassallo |
| author_facet | Andrea Michelerio Carlo Tomasini Eloisa Arbustini Camilla Vassallo |
| author_sort | Andrea Michelerio |
| collection | DOAJ |
| description |
Introduction: Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life leading to severe disability. SCN9A mutations can be the cause of the disease. Dermatologists are often the specialists these patients turn to for assistance.
Objectives: To describe the demographic and clinical characteristics of patients with primary EM, to assess the presence and mutation types in the SCN9A gene, to evaluate the effectiveness of several therapeutic approaches, and to propose a diagnostic algorithm with therapeutic implications.
Methods: A monocentric retrospective study using the database of patients with a discharge diagnosis of primary EM of our Center. Demographic, clinical, instrumental and laboratory data of patients were reviewed.
Results: Eleven female patients (age range 16 to 57) were selected. All patients were affected in both the lower and upper extremities. Follow-up ranged from 2 to 9 years. Four patients had four different heterozygous variants of the SCN9A gene. Two patients, although genetically negative, had a suggestive family history. 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.
Conclusions: 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. Mutations in the SCN9A gene are not always detected.
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| first_indexed | 2024-03-12T18:00:27Z |
| format | Article |
| id | doaj.art-77de141afbbf4153a90f832bf573634e |
| institution | Directory Open Access Journal |
| issn | 2160-9381 |
| language | English |
| last_indexed | 2024-03-12T18:00:27Z |
| publishDate | 2023-07-01 |
| publisher | Mattioli1885 |
| record_format | Article |
| series | Dermatology Practical & Conceptual |
| spelling | doaj.art-77de141afbbf4153a90f832bf573634e2023-08-02T12:23:39ZengMattioli1885Dermatology Practical & Conceptual2160-93812023-07-0113310.5826/dpc.1303a191Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart ProposalAndrea Michelerio0Carlo Tomasini1Eloisa Arbustini2Camilla Vassallo3Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia; Dermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, ItalyDepartment of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia; Dermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, ItalyCentre for Inherited Cardiovascular Diseases, IRCCS Policlinico San Matteo, Pavia, ItalyDermatology Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy Introduction: Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life leading to severe disability. SCN9A mutations can be the cause of the disease. Dermatologists are often the specialists these patients turn to for assistance. Objectives: To describe the demographic and clinical characteristics of patients with primary EM, to assess the presence and mutation types in the SCN9A gene, to evaluate the effectiveness of several therapeutic approaches, and to propose a diagnostic algorithm with therapeutic implications. Methods: A monocentric retrospective study using the database of patients with a discharge diagnosis of primary EM of our Center. Demographic, clinical, instrumental and laboratory data of patients were reviewed. Results: Eleven female patients (age range 16 to 57) were selected. All patients were affected in both the lower and upper extremities. Follow-up ranged from 2 to 9 years. Four patients had four different heterozygous variants of the SCN9A gene. Two patients, although genetically negative, had a suggestive family history. 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. Conclusions: 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. Mutations in the SCN9A gene are not always detected. http://dpcj.org/index.php/dpc/article/view/3049erythromelalgiaSCN9A proteinNAV1.7 Voltage-Gated Sodium Channelmexiletinetreatments |
| spellingShingle | Andrea Michelerio Carlo Tomasini Eloisa Arbustini Camilla Vassallo Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal Dermatology Practical & Conceptual erythromelalgia SCN9A protein NAV1.7 Voltage-Gated Sodium Channel mexiletine treatments |
| title | Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal |
| title_full | Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal |
| title_fullStr | Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal |
| title_full_unstemmed | Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal |
| title_short | Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal |
| title_sort | clinical challenges in primary erythromelalgia a real life experience from a single center and a diagnostic therapeutic flow chart proposal |
| topic | erythromelalgia SCN9A protein NAV1.7 Voltage-Gated Sodium Channel mexiletine treatments |
| url | http://dpcj.org/index.php/dpc/article/view/3049 |
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