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<meta name="keywords" content="CN077964, carbamazepine response, carbatrol response, epitol response, equetro response, hla-a, hla-b, sign or symptom, tegretol response, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia. Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The genetic variants HLA-B*15:02 and HLA-A*31:01 are associated with the risk of SJS/TEN. Patients who have at least one copy of the HLA-B*15:02 or HLA-A*31:01 allele (considered HLA-B*15:02 positive or HLA-A*31:01-positive, respectively) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug. It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN. Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=450436
|
||
ConceptID=CN077964
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Carbamazepine response</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450436</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">CN077964</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Carbatrol response; Epitol response; Equetro response; Tegretol response</td></tr>
|
||
<tr><td>Drug:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="drug_745"><div><strong>Carbamazepine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0006949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pharmacologic Substance</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tricyclic compound chemically related to tricyclic antidepressants (TCA) with anticonvulsant and analgesic properties. Carbamazepine exerts its anticonvulsant activity by reducing polysynaptic responses and blocking post-tetanic potentiation. Its analgesic activity is not understood; however, carbamazepine is commonly used to treat pain associated with trigeminal neuralgia. [from NCI]</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#drug_745" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carbamazepine</a></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HLA-A - ID: 3105 - NCBI Gene" href="/gene/3105" class="medgenPMinfo">HLA-A</a> (6p22.1); <a target="_blank" title="HLA-B - ID: 3106 - NCBI Gene" href="/gene/3106" class="medgenPMinfo">HLA-B</a> (6p21.33)</td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia. Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The genetic variants HLA-B*15:02 and HLA-A*31:01 are associated with the risk of SJS/TEN. Patients who have at least one copy of the HLA-B*15:02 or HLA-A*31:01 allele (considered HLA-B*15:02 positive or HLA-A*31:01-positive, respectively) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug. It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN. Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. [from <a title="The Pharmacogenomics Knowledge Base" href="http://www.pharmgkb.org" class="defSource" target="_blank">PharmGKB</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From Medical Genetics Summaries</strong><br />Carbamazepine (brand names include Carbatrol, Epitol, Equetro, and Tegretol) is an effective antiseizure drug that is often used as a first-line agent in the treatment of epilepsy. Carbamazepine is also used to treat bipolar disorder and to relieve pain in trigeminal neuralgia. Hypersensitivity reactions associated with carbamazepine can occur in up to 10% of patients, and typically affect the skin. Some of these reactions are mild, as in the case of maculopapular exanthema (MPE); however, conditions such as Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) are potentially life-threatening. The risk of hypersensitivity is increased by the presence of specific human leukocyte antigen (HLA) alleles. The HLA-B*15:02 allele is strongly associated with carbamazepine-induced SJS/TEN in populations where this allele is most common, such as in Southeast Asia. According to the FDA-approved drug label for carbamazepine, testing for HLA-B*15:02 should be done for all patients with ancestry in populations with increased frequency of HLA-B*15:02, prior to initiating carbamazepine therapy. The label states that greater than 15% of the population is reported HLA-B*15:02 positive in Hong Kong, Thailand, Malaysia, and parts of the Philippines, compared to about 10% in Taiwan and 4% in North China. The label states that South Asians, including Indians, appear to have intermediate prevalence of HLA-B*15:02, averaging 2 to 4%, but higher in some groups. In Japan and Korea, the HLA- B*15:02 is present in less than 1% of the population. In individuals not of Asian origin (e.g., Caucasians, African-Americans, Hispanics, and Native Americans), the HLA-B*15:02 allele is largely absent. These prevalence rates of HLA-B*15:02 may be used to guide which patients should be screened. However, the FDA cautions to keep in mind the limitations of prevalence rate data when deciding which patients to screen. This is because of the wide variability in HLA-B*15:02 rates (even within ethnic groups), the difficulty in ascertaining ethnic ancestry, and the likelihood of mixed ancestry. The FDA label also states that carbamazepine should not be used in patients who are positive for HLA-B*15:02 unless the benefits clearly outweigh the risks. Tested patients who are found to be negative for the allele are thought to have a low risk of SJS/TEN. The HLA-A*31:01 allele may also be a risk factor for SJS/TEN but is more strongly associated with other carbamazepine-induced reactions, such as DRESS and MPE. HLA-A*31:01 is found in most populations, worldwide. HLA-B*15:11 is another allele that has been linked with SJS/TEN. The FDA states that the risks and benefits of carbamazepine therapy should be weighed before considering carbamazepine in patients known to be positive for HLA-A*31:01, but does not discuss HLA-B*15:11. Carbamazepine dosing guidelines based on HLA genotype have been published by the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP), the Clinical Pharmacogenetics Implementation Consortium (CPIC), and the Canadian Pharmacogenomics Network for Drug Safety (CPNDS). DPWG recommendations include avoiding the use of carbamazepine and selecting an alternative, if possible, for individuals positive for HLA-B*15:02, HLA-A*31:01 and HLA-B*15:11. CPIC recommendations include not using carbamazepine in carbamazepine-naïve patients who are positive for HLA-B*15:02 and any HLA-A*31:01 genotype (or HLA-A*31:01 genotype unknown). CPNDS recommends genetic testing for all carbamazepine-naïve patients before they start treatment, with a moderate level of evidence for HLA-A*31:01 testing, and strong to optional evidence for HLA-B*15:02 testing (based on the frequency of HLA-B*15:02 in the population the patient originates from, and if this is known or not). <a target="_blank" href="https://www.ncbi.nlm.nih.gov/books/NBK321445">https://www.ncbi.nlm.nih.gov/books/NBK321445</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37814552">European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Doorn PA,
|
||
Van den Bergh PYK,
|
||
Hadden RDM,
|
||
Avau B,
|
||
Vankrunkelsven P,
|
||
Attarian S,
|
||
Blomkwist-Markens PH,
|
||
Cornblath DR,
|
||
Goedee HS,
|
||
Harbo T,
|
||
Jacobs BC,
|
||
Kusunoki S,
|
||
Lehmann HC,
|
||
Lewis RA,
|
||
Lunn MP,
|
||
Nobile-Orazio E,
|
||
Querol L,
|
||
Rajabally YA,
|
||
Umapathi T,
|
||
Topaloglu HA,
|
||
Willison HJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Dec;30(12):3646-3674.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1111/ene.16073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37814552" target="_blank">37814552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37655702">Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pressler RM,
|
||
Abend NS,
|
||
Auvin S,
|
||
Boylan G,
|
||
Brigo F,
|
||
Cilio MR,
|
||
De Vries LS,
|
||
Elia M,
|
||
Espeche A,
|
||
Hahn CD,
|
||
Inder T,
|
||
Jette N,
|
||
Kakooza-Mwesige A,
|
||
Mader S,
|
||
Mizrahi EM,
|
||
Moshé SL,
|
||
Nagarajan L,
|
||
Noyman I,
|
||
Nunes ML,
|
||
Samia P,
|
||
Shany E,
|
||
Shellhaas RA,
|
||
Subota A,
|
||
Triki CC,
|
||
Tsuchida T,
|
||
Vinayan KP,
|
||
Wilmshurst JM,
|
||
Yozawitz EG,
|
||
Hartmann H</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Oct;64(10):2550-2570.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1111/epi.17745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37655702" target="_blank">37655702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32822636">Advances in diagnosis, classification, pathophysiology, and management of trigeminal neuralgia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bendtsen L,
|
||
Zakrzewska JM,
|
||
Heinskou TB,
|
||
Hodaie M,
|
||
Leal PRL,
|
||
Nurmikko T,
|
||
Obermann M,
|
||
Cruccu G,
|
||
Maarbjerg S</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Sep;19(9):784-796.
|
||
doi: 10.1016/S1474-4422(20)30233-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32822636" target="_blank">32822636</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carbamazepine%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1016)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33333223">Association of xenobiotic receptor polymorphisms with carbamazepine response in epilepsy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong FC,
|
||
Ma CL,
|
||
Lang LQ,
|
||
Zhong MK</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2021 Mar 1;771:145359.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1016/j.gene.2020.145359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33333223" target="_blank">33333223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20response%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31663586">Perylene diimide-Cu(2+) based fluorescent nanoparticles for the detection of spermine in clinical and food samples: a step toward the development of a diagnostic kit as a POCT tool for spermine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar K,
|
||
Kaur S,
|
||
Kaur S,
|
||
Bhargava G,
|
||
Kumar S,
|
||
Singh P</span><br />
|
||
<span class="medgenPMjournal">J Mater Chem B</span>
|
||
2019 Dec 7;7(45):7218-7227.
|
||
Epub 2019 Oct 30
|
||
doi: 10.1039/c9tb02039j.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31663586" target="_blank">31663586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20response%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35325436">The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boughrara W,
|
||
Chentouf A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2022 Aug;122(4):871-880.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1007/s13760-022-01920-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35325436" target="_blank">35325436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33333223">Association of xenobiotic receptor polymorphisms with carbamazepine response in epilepsy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong FC,
|
||
Ma CL,
|
||
Lang LQ,
|
||
Zhong MK</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2021 Mar 1;771:145359.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1016/j.gene.2020.145359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33333223" target="_blank">33333223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9630790">SUNCT syndrome. Two cases in Argentina.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raimondi E,
|
||
Gardella L</span><br />
|
||
<span class="medgenPMjournal">Headache</span>
|
||
1998 May;38(5):369-71.
|
||
doi: 10.1046/j.1526-4610.1998.3805369.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9630790" target="_blank">9630790</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20response%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33333223">Association of xenobiotic receptor polymorphisms with carbamazepine response in epilepsy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong FC,
|
||
Ma CL,
|
||
Lang LQ,
|
||
Zhong MK</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2021 Mar 1;771:145359.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1016/j.gene.2020.145359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33333223" target="_blank">33333223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10578451">Baseline cerebral hypermetabolism associated with carbamazepine response, and hypometabolism with nimodipine response in mood disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ketter TA,
|
||
Kimbrell TA,
|
||
George MS,
|
||
Willis MW,
|
||
Benson BE,
|
||
Danielson A,
|
||
Frye MA,
|
||
Herscovitch P,
|
||
Post RM</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry</span>
|
||
1999 Nov 15;46(10):1364-74.
|
||
doi: 10.1016/s0006-3223(99)00210-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10578451" target="_blank">10578451</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20response%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35325436">The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boughrara W,
|
||
Chentouf A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2022 Aug;122(4):871-880.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1007/s13760-022-01920-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35325436" target="_blank">35325436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carbamazepine%20response%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_120">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Therapeutic_recommendations">Therapeutic recommendations</h1><a sid="120" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln" id="therapeutic"><strong>From <a href="https://www.ncbi.nlm.nih.gov/books/NBK321445" target="_blank">Medical Genetics Summaries</a></strong><br /><div id="TheraputicContent"><div class="divPopper rprt" id="abacavir_REF_1" style="display: none;">1. ABACAVIR- abacavir tablet, film coated [package insert]. Miami, FL; 2017 May. Available from: <a href="https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=0d791375-e311-41f9-87b8-940657e6318c" target="_blank">https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=0d791375-e311-41f9-87b8-940657e6318c</a></div><div class="divPopper rprt" id="abacavir_REF_5" style="display: none;">5. Royal Dutch Pharmacists Association (KNMP). Dutch Pharmacogenetics Working Group (DPWG). Pharmacogenetic Guidelines [Internet]. Netherlands. Abacavir – HLA-B*5701 [Cited July 2017]. Available from: <a href="http://kennisbank.knmp.nl" target="_blank">http://kennisbank.knmp.nl</a> [Access is restricted to KNMP membership.]</div><p><b>This section contains excerpted</b>
|
||
<sup>1</sup>
|
||
<b>information on gene-based dosing recommendations. Neither this section nor other parts of this review contain the complete recommendations from the sources.</b>
|
||
</p><h2>2017 Statement from the US Food and Drug Administration (FDA)</h2><p>Serious and sometimes fatal hypersensitivity reactions have occurred with abacavir sulfate. These hypersensitivity reactions have included multi-organ failure and anaphylaxis and typically occurred within the first 6 weeks of treatment with abacavir sulfate (median time to onset was 9 days); although abacavir hypersensitivity reactions have occurred any time during treatment. Patients who carry the <i>HLA-B*57:01</i> allele are at a higher risk of abacavir hypersensitivity reactions; although, patients who do not carry the <i>HLA-B*57:01</i> allele have developed hypersensitivity reactions. Hypersensitivity to abacavir was reported in approximately 206 (8%) of 2,670 patients in 9 clinical trials with abacavir-containing products where <i>HLA-B*57:01</i> screening was not performed. The incidence of suspected abacavir hypersensitivity reactions in clinical trials was 1% when subjects carrying the <i>HLA-B*57:01</i> allele were excluded. In any patient treated with abacavir, the clinical diagnosis of hypersensitivity reaction must remain the basis of clinical decision making.</p><p>Due to the potential for severe, serious, and possibly fatal hypersensitivity reactions with abacavir sulfate:</p><ul><li>All patients should be screened for the <i>HLA-B*57:01</i> allele prior to initiating therapy with abacavir tablets or reinitiation of therapy with abacavir tablets, unless patients have a previously documented <i>HLA-B*57:01</i> allele assessment.</li><li>Abacavir tablet is contraindicated in patients with a prior hypersensitivity reaction to abacavir and in <i>HLA-B*57:01</i> -positive patients.</li><li>Before starting abacavir tablets, review medical history for prior exposure to any abacavir-containing product. NEVER restart abacavir tablets or any other abacavir-containing product following a hypersensitivity reaction to abacavir, regardless of <i>HLA-B*57:01</i> status.</li><li>To reduce the risk of a life-threatening hypersensitivity reaction, regardless of <i>HLA-B*57:01</i> status, discontinue abacavir tablets immediately if a hypersensitivity reaction is suspected, even when other diagnoses are possible (e.g., acute onset respiratory diseases such as pneumonia, bronchitis, pharyngitis, or influenza; gastroenteritis; or reactions to other medications).</li><li>If a hypersensitivity reaction cannot be ruled out, do not restart abacavir tablets or any other abacavir-containing products because more severe symptoms which may include life-threatening hypotension and death, can occur within hours.</li><li>If a hypersensitivity reaction is ruled out, patients may restart abacavir tablets. Rarely, patients who have stopped abacavir for reasons other than symptoms of hypersensitivity have also experienced life-threatening reactions within hours of reinitiating abacavir therapy. Therefore, reintroduction of abacavir tablets or any other abacavir-containing product is recommended only if medical care can be readily accessed.</li><li>A Medication Guide and Warning Card that provide information about recognition of hypersensitivity reactions should be dispensed with each new prescription and refill.</li></ul><p><b>Please review the complete therapeutic recommendations that are located here: (</b>
|
||
<b>1</b>
|
||
<b>)</b>
|
||
.</p><h2>2014 Statement from the Clinical Pharmacogenetics Implementation Consortium (CPIC)</h2><p>We agree with others that <i>HLA-B*57:01</i> screening should be performed in all abacavir-naive individuals before initiation of abacavir-containing therapy (see Table 2); this is consistent with the recommendations of the FDA, the US Department of Health and Human Services, and the European Medicines Agency. In abacavir-naive individuals who are <i>HLA-B*57:01</i>-positive, abacavir is not recommended and should be considered only under exceptional circumstances when the potential benefit, based on resistance patterns and treatment history, outweighs the risk. <i>HLA-B*57:01</i> genotyping is widely available in the developed world and is considered the standard of care prior to initiating abacavir. Where <i>HLA-B*57:01</i> genotyping is not clinically available (such as in resource-limited settings), some have advocated initiating abacavir, provided there is appropriate clinical monitoring and patient counseling about the signs and symptoms of HSR [hypersensitivity reaction], although this remains at the clinician’s discretion.</p><p><b>Please review the complete therapeutic recommendations that are located here</b>
|
||
(3, 4).</p><h2>2017 Summary of Recommendations from the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP)</h2><p><i>HLA-B*57:01</i>-positive patients have a strongly increased risk of a hypersensitivity reaction to abacavir.</p><p><b>Recommendation:</b>
|
||
</p><p>Abacavir is contraindicated for <i>HLA-B*57:01</i>-positive patients.</p><ol><li>Advise the prescriber to prescribe an alternative according to the current guidelines.</li></ol><p><b>Background information</b>
|
||
</p><p><b>Mechanism:</b>
|
||
</p><p>Although the mechanism of hypersensitivity reactions to abacavir is not fully known, experimental data suggest the following mechanism.</p><p>Abacavir metabolites (aldehydes and acids) form a covalent bond with cellular proteins. Peptides derived from these modified proteins bind to <i>HLA-B*5701</i> and are recognised on the cell surface as foreign by the immune cells, which triggers an immune response against cells containing abacavir. For more information about the <i>HLA-B*57:01</i> genotype: see the general background information about HLA on the KNMP Knowledge Bank or on http://www.knmp.nl/ (search for HLA).</p><p><b>Other considerations:</b>
|
||
</p><p>If tests are performed for <i>HLA-B57</i> instead of <i>HLA-B*57:01</i>, some patients will incorrectly be denied treatment with abacavir. This is primarily the case in patients of African descent, where <i>HLA-B*57:03</i> is the most common <i>HLA-B57</i> sub-type and to a lesser extent for Caucasian patients, where <i>HLA-B*57:01</i> is the most common <i>HLA-B57</i> sub-type. If there are enough alternatives, it is not a problem that the patient is being denied abacavir incorrectly.</p><p><b>Clinical consequences:</b>
|
||
</p><p><i>HLA-B*5701</i>-positive patients have a strongly increased risk of a hypersensitivity reaction to abacavir (OR [odds ratio] 7 to 960 for clinically diagnosed hypersensitivity reactions and 900 to 1945 for immunologically confirmed hypersensitivity reactions).</p><p>Exclusion of <i>HLA-B*5701</i>-positive patients from abacavir therapy reduced the number of clinically diagnosed hypersensitivity reactions in predominantly white populations by 56-96% and the number of immunologically confirmed hypersensitivity reactions by 100%.</p><p>Hypersensitivity reactions to abacavir generally disappear spontaneously after stopping abacavir, but can be fatal in severe cases.</p><p><b>Please review the complete therapeutic recommendations that are located here: (</b>
|
||
<b>5</b>
|
||
<b>).</b>
|
||
</p><table id="abacavir.T.cpic_2014_recommended_therape" frame="hsides" rules="groups"><caption>Table 2. CPIC (2014) Recommended Therapeutic Use of Abacavir in relation to <i>HLA-B</i> Genotype<sup>a</sup>
|
||
</caption><tfoot><tr><td colspan="4"><i>HLA-B</i>, <i>human leukocyte antigen B.</i></td></tr><tr><td colspan="4"><sup>a</sup>
|
||
|
||
. The 2014 update states that the recommendations shown in the table from the 2012 guideline remain the same. This table has been adapted from the 2012 guideline (3, 4).</td></tr><tr><td colspan="4"><sup>b</sup>
|
||
|
||
. Rating scheme described in supplementary data online (3, 4).</td></tr><tr><td colspan="4">Please see 2014 Statement from the Clinical Pharmacogenetics Implementation Consortium (CPIC) for more information from CPIC. Table adapted from (3).</td></tr></tfoot><thead><tr><th id="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_1" valign="top" align="left" scope="col" rowspan="1" colspan="1">Genotype</th><th id="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_2" valign="top" align="left" scope="col" rowspan="1" colspan="1">Implications for phenotypic measures</th><th id="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_3" valign="top" align="left" scope="col" rowspan="1" colspan="1">Recommendations for abacavir</th><th id="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_4" valign="top" align="left" scope="col" rowspan="1" colspan="1">Classification of recommendations<sup>b</sup>
|
||
</th></tr></thead><tbody><tr><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1">“Negative”<br />Noncarrier of<br /><i>HLA-B*57:01</i></td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Low or reduced risk of abacavir hypersensitivity</td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Use abacavir per standard dosing guidelines</td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Strong</td></tr><tr><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_1" valign="top" align="left" scope="row" rowspan="1" colspan="1">“Positive”<br />Carrier of<br /><i>HLA-B*57:01</i></td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_2" valign="top" align="left" rowspan="1" colspan="1">Significantly increased risk of abacavir hypersensitivity</td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_3" valign="top" align="left" rowspan="1" colspan="1">Abacavir is not recommended</td><td headers="hd_h_abacavir.T.cpic_2014_recommended_therape_1_1_1_4" valign="top" align="left" rowspan="1" colspan="1">Strong</td></tr></tbody></table><p><sup>1</sup>
|
||
|
||
The FDA labels specific drug formulations. We have substituted the generic names for any drug labels in this excerpt. The FDA may not have labeled all formulations containing the generic drug. Certain terms, genes and genetic variants may be corrected in accordance to nomenclature standards, where necessary. We have given the full name of abbreviations, shown in square brackets, where necessary.</p></div></div>
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