What are the Treatment Options for Paroxysmal Extreme Pain Disorder?

Suter, Marc R

doi:10.2217/pmt.15.24

Cited by 4 publications

(7 citation statements)

References 22 publications

(21 reference statements)

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“…It is likely that the phenotypic diversity in PEPD we identified here is also caused by gain-of-function of the protein. Gene modifications, the environment or other underlying diseases are all factors that may affect the presentation of PEPD symptoms [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…In our study, carbamazepine relieved the patient’s symptoms. Other sodium-channel blockers, topiramate and lamotrigine, have also been reported to be effective in some cases [ 20 ]. Other medicines including anticonvulsants, tricyclic antidepressants and serotonin-norepinephrine reuptake inhibitors have also been applied to treat PEPD, although their efficacy is uncertain at this time ( 20 ).…”

Section: Discussionmentioning

confidence: 99%

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A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

Hua

Cui²,

Lin³

et al. 2022

BMC Med Genomics

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Background Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. PEPD is a sodium channel dysfunctional disorder caused by SCN9A gene variants. It occurs mainly in Caucasians and only one case has been reported in the Chinese population. Here, we report the second PEPD case in a Chinese indivisual. Case presentation A 2 years and 6 months old girl initially presented with non-epileptic tonic seizures at 7 days after birth. Her clinical symptoms in order of presentation were non-epileptic tonic seizures, harlequin color change and pain. Genetic analysis showed the patient carried a heterozygous variant c.4384T>A (p.F1462I) in the SCN9A gene, which was speculated to cause PEPD symptoms. After administrating carbamazepine, the symptoms were relieved and the patient's condition improved. However, the patient’s mother, who carries the same SCN9A variant as her daughter, only showed bradycardia and sinus arrest but no PEPD-related pain. Conclusions This is the second PEPD case reported in the Chinese population. With the discovery of a novel variant in SCN9A, we expanded the genotype spectrum of PEPD. This is the first case suggesting that the clinical presentations of SCN9A-associated PEPD may show inter familial phenotypic diversity. In the future of clinical diagnosis, patients with triggered non-epileptic tonic seizures or pain and harlequin color change should be considered for PEPD and proper and prompt treatment should be given.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

Hua

Cui²,

Lin³

et al. 2022

BMC Med Genomics

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“…Symptoms occur in response to benign mechanical triggers such as defecation (rectal crisis), yawning and eating (mandibular crisis), spontaneously (ocular crisis) as well as cold temperatures and emotional factors. [33][34][35][36] PEPD is caused by a heterozygous missense mutation (gain of function) in the SCN9A gene expressed in peripheral sensory nerves of the dorsal root and sympathetic ganglion neurons that encode the alpha-subunit of Nav1. 7 voltage-gated sodium channel.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

“…35 Alterations in closure of the channel leads to enhanced cellular depolarization allowing more channels to remain open and hyperexcitable at the defined membrane potential. 35,37 Clinical Presentation and Gastrointestinal Involvement PEPD is an autosomal dominant disease. Symptoms begin during the neonatal period and progress with increasing age.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

“…38 Patients and affected family members present with visceral pain paroxysms and diverse symptoms based on the severity, locations and duration of symptoms. 34,35 Patient may initially complain of pruritus followed by burning pain that when severe is described as sharp, stabbing or lancinating, lasting for seconds to hours and gradually subsides with time. 34 Although pain may initially start in a specific region, during severe attacks it may become more widespread and affect the entire body.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

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Flushing Disorders Associated with Gastrointestinal Symptoms: Part 2, Systemic Miscellaneous Conditions

et al. 2018

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Flushing disorders with involvement of the gastrointestinal tract represent a heterogeneous group of conditions. In part 1 of this review series, neuroendocrine tumors (NET), mast cell activation disorders (MCAD), and hyperbasophilia were discussed. In this section we discuss the remaining flushing disorders which primarily or secondarily involve the gastrointestinal tract. This includes dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications. With the exception of paroxysmal pain disorders, panic disorders and some medications, these disorders presents with dry flushing. A detailed and comprehensive family, social, medical and surgical history, as well as recognizing the presence of other systemic symptoms are important in distinguishing the different disease that cause flushing with gastrointestinal symptoms.

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Genetic Small Fiber Sensory Neuropathy and Channelopathy

Privitera

2019

Small Fiber Neuropathy and Related Syndromes: Pain and Neurodegeneration

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What are the Treatment Options for Paroxysmal Extreme Pain Disorder?

Cited by 4 publications

References 22 publications

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 2, Systemic Miscellaneous Conditions

Genetic Small Fiber Sensory Neuropathy and Channelopathy

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