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Familial Episodic Pain Syndrome 2

Sodium Channelopathy-Related Small Fiber Neuropathy


Presentation

  • Acronym FEPS2 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • It is important to differentiate the symptoms of FMS from other conditions that may present as abdominal pain and fever.[clevelandclinicmeded.com]
  • […] should be suspected in patients who present with monocular diplopia, especially if the ocular funduscopic examination is normal. 35 The final pseudoneuro-ophthalmologic presentation is ptosis.[aafp.org]
  • Presentations of recurrent abdominal pain in children [ 5, 6 ] Several symptom groups are seen in childhood RAP, allowing classification into commonly occurring presentations.[patient.info]
  • At her first presentation, she showed gastrointestinal problems with failure to thrive, enhanced sweating, hyperkinetic movement disorder, and muscle hypotonia.[thieme-connect.com]
Pain
  • Orpha Number: 391384 Disease definition Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in[rarediseases.info.nih.gov]
  • Definition An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities.[uniprot.org]
  • It causes disabling pain often characterized by burning with brief, intolerable bursts of sharp pain, aching pain, and "pins and needles."[qualityhealth.com]
  • Validation of the Pain Sensitivity Questionnaire in chronic pain patients. Pain. 2012 Jun. 153(6):1210-8. [Medline]. Tesarz J, Schuster AK, Hartmann M, Gerhardt A, Eich W.[emedicine.medscape.com]
  • In AMP, pain signals are amplified, thus mildly painful or non-painful stimuli are registered by the body as very painful, and this leads to a functional disability – as the patient tries to avoid the induction of pain.[ped-rheum.biomedcentral.com]
Episodic Pain
  • Orpha Number: 391384 Disease definition Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in[rarediseases.info.nih.gov]
  • Entry H01391 Disease Name Familial episodic pain syndrome Description Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities[genome.jp]
  • ] 38,752,313( ) GAGGA(A/G)GAGGG intron-variant, reference, missense rs142173735 Pathogenic, Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551] 38,712,340( ) CCCTG(A/C/T)GAAGA reference, missense rs138413438 Likely benign 38,726,721( ) CAGTC(A/G)[genecards.org]
  • Back to Article Fig 2 Genome-wide linkage analysis in two Japanese familial episodic pain syndrome families.[journals.plos.org]
  • Gain-of-function mutations in SCN11A cause familial episodic pain. Am J Hum Genet 2013;93(5):957-966[thieme-connect.com]
Fatigue
  • […] syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue[rarediseases.info.nih.gov]
  • Chronic Fatigue Fatigue is a common and debilitating symptom. Dr Alan Hakim provides more information via the HMSA about chronic fatigue and hypermobility syndromes here .[inthefringes.wordpress.com]
  • Familial episodic pain syndrome Description Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue[genome.jp]
  • Ninety-eight percent of patients had other somatic complaints consistent with SFPN dysautonomia (90% cardiovascular, 82% gastrointestinal, and 34% urologic), 83% reported chronic fatigue, and 63% had chronic headache.[pediatrics.aappublications.org]
  • Large fiber Pin loss: Distal; Most patients Vibration: Commonly (50%) reduced Sensory ataxia: Increased falling in some patients Pain: Some patients Distal Proximal: May be prominent in proximal regions Paresthesia Burning Increased at night Motor: Fatigue[neuromuscular.wustl.edu]
Pallor
  • Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Last updated: 9/3/2018[rarediseases.info.nih.gov]
  • […] generalized pallor Peribuccal cyanosis Abdominal wall stiffness Duration: 1.5 hours Prodrome: Episode may be aborted Post episode: Exhaustion & Deep sleep Between episodes No altered pain sensitivity Neurologic exam: Normal Laboratory Skin biopsies:[neuromuscular.wustl.edu]
  • Abnormal physical signs such as pallor, jaundice, guarding, rebound tenderness, altered bowel sounds, or a palpable mass. Joint inflammation. Oral and/or perianal lesions. Skin rashes. Delayed puberty.[patient.info]
  • Pallor and autonomic symptoms such as flushing, sweating, feeling warm, nausea and abdominal discomfort may occur.[epilepsydiagnosis.org]
  • Recurrent episodic attacks, usually stereotypical in the individual patient, of vomiting and intense nausea which are associated with pallor and lethargy.The clinical features of this syndrome resemble those found in association with migraine headaches[physio-pedia.com]
Limb Pain
  • Causes limb pain. Low levels of vitamin D in laboratory tests.[ped-rheum.biomedcentral.com]
  • Somatic symptoms such as headache, limb pain, or difficulty in sleeping. Presentations suggestive of organic disease The presence of alarm symptoms or signs increases the likelihood of organic disease and should prompt further investigation.[patient.info]
  • Such headaches were associated with pain of the external genitalia, harlequin-type facial flushing after headache events, as well as paroxysmal, burning limb, pain in some subjects.[thejournalofheadacheandpain.springeropen.com]
Respiratory Disorders
  • Contains comprehensive coverage of TRP channels as therapeutic targets, from emerging clinical indications to completed clinical trials Discusses TRP channels as validated targets, ranging from obesity and diabetes through cancer and respiratory disorders[books.google.com]
Common Cold
  • An acute injury isn’t very from a dislocated kneecap – which is more common that the common cold – and so for the most part, I don’t really see it as a significant problem, just a short-term annoying extra to deal with.[inthefringes.wordpress.com]
Tachycardia
  • Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Last updated: 9/3/2018[rarediseases.info.nih.gov]
  • […] polyneuropathy CWP — chronic widespread pain ENF — epidermal nerve fiber ESR — erythrocyte sedimentation rate GBS — Guillain-Barré syndrome, (acute inflammatory demyelinating polyneuropathy) IVIG — intravenous immune globulin POTS — postural orthostasis tachycardia[pediatrics.aappublications.org]
  • EKG recordings during attacks show sinus tachycardia. CT, MRI, EMG and nerve conduction studies produce normal results. EEG recordings are normal between attacks but show early-onset tachycardia during attacks.[en.wikipedia.org]
  • POTS: Postural Orthostatic Tachycardia Syndrome is a condition associated with light headedness, fainting or dizziness when changing positions - especially from sitting or lying to standing.[mitoaction.org]
  • Cardiovascular Postural Orthostatic Tachycardia Syndrome (POTS) Autonomic dysfunction/dysautonomia, POTS (Postural Orthostatic Tachycardia Syndrome) in particular, is closely associated with EDS and in the last 5 – 10 years, an interesting trifecta of[inthefringes.wordpress.com]
Hypertension
  • […] coverage of TRP channels as therapeutic targets, from emerging clinical indications to completed clinical trials Discusses TRP channels as validated targets, ranging from obesity and diabetes through cancer and respiratory disorders, kidney diseases, hypertension[books.google.com]
  • Paresthesia Burning Increased at night Motor: Fatigue; Occasional distal weakness in toes (Plantar flexion; Abduction) Tendon reflexes: Generally preserved; Reduced distally Autonomic disorders: Especially cholinergic 4 Pain Vasomotor: Skin; Secretory Hypertension[neuromuscular.wustl.edu]
  • […] vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Continuous spikes and waves during sleep Corneal-cerebellar syndrome Cornelia de Lange syndrome Coronary artery disease - hyperlipidemia - hypertension[sanfordresearch.org]
  • , Primary, Dexfenfluramine-associated Pulmonary Hypertension, Primary Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, Infantile-onset Progressive Pulmonary Toxicity when Exposed to Thioureas Pycnodysostosis Pyridoxine Responsive[sequencing.com]
  • Hyper-cyanotic spells are most frequently seen in infants with Tetralogy of Fallot (known as 'tet spells'), however can be seen in other congenital cardiac defects with pulmonary or subpulmonary stenosis and a ventriculoseptal defect and in pulmonary hypertension[epilepsydiagnosis.org]
Foot Deformity
  • History of exposure to environmental toxins: More common in neuropathy patients Family history of neuropathy & foot deformity: More common in neuropathy patients Differential diagnosis M-protein Amyloid Connective tissue disease Diabetes SCN9A mutations[neuromuscular.wustl.edu]
Suggestibility
  • […] diabetes through cancer and respiratory disorders, kidney diseases, hypertension, neurodegenerative disorders, and more Provides critical analysis of the complications and side effects that have surfaced during clinical trials, offering evidence-based suggestions[books.google.com]
  • Some literature suggests that in the absence of red flag or alarm symptoms, no investigations are justified.[patient.info]
  • Interestingly, a study of a small cohort of patients suggested that photic exacerbation of migraine headache is only preserved in blind persons who retain the ability to perceive light ( 36 ).[jci.org]
  • These suggest that there is some genetic variability for the predisposition to amyloidosis.[clevelandclinicmeded.com]
  • This record may reveal inappropriate behavior patterns and exaggerated responses to pain or otherwise suggest a diagnosis. Physiologic conditions are treated.[merckmanuals.com]
Peripheral Neuropathy
  • Orpha Number: 391384 Disease definition Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in[rarediseases.info.nih.gov]
  • This is complementary to my clinical interest in peripheral neuropathy and as such links with my specialist neuropathy clinical service at the Oxford University Hospitals.[ndcn.ox.ac.uk]
  • neuropathy Acquired von Willebrand syndrome Acral peeling skin syndrome Acromegaly Acromesomelic dysplasia Actinic prurigo Activated PIK3-delta syndromea Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis Acute[sanfordresearch.org]
  • This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants.[genecards.org]
  • neuropathy SCN4A sodium channel, voltage gated, type IV alpha subunit 17 62,015,913: 62,066,875 Nav1.4 voltage-gated sodium channel subunit oxaliplatin-induced peripheral neuropathy; painful cold-induced myotonia SCN9A sodium channel, voltage-gated,[painresearchforum.org]
Neglect
  • Remember also to be alert to any features suggestive of child abuse, including sexual abuse and neglect [ 23 ].[patient.info]

Workup

  • Imaging studies, including with radiography, magnetic resonance imaging (MRI), and computed tomography (CT) scanning, are important tools in the workup of patients with CPS.[emedicine.medscape.com]
  • Usually, no further diagnostic evaluations are needed if there are no abnormal findings in the initial diagnostic workup.[ped-rheum.biomedcentral.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The use of this treatment modality has been described in the literature with regards to pediatric CRPS treatment [ 5 , 9 , 84 – 86 ].[ped-rheum.biomedcentral.com]
  • What are the treatments for TRAPS? There is still no proven definitive treatment to prevent or cure the disease.[my.clevelandclinic.org]
  • Treatment manuals incorporating home training led to nearly 20% higher treatment effects for headache reduction. [27] EmbedVideo was given an illegal value for the alignment parameter "Neurofeedback for migraine headache treatment".[physio-pedia.com]
  • Arcalyst (Rilonacept) by Regeneron Pharmaceuticals, an interleukin-1 blocker, was approved by the FDA in 2008 for the treatment of CAPS, including FCAS and MWS, in adults and children 12 and older.[rarediseases.org]

Prognosis

  • Other reports concluded that the prognosis of pediatric CRPS is not as favorable as reported [ 87 , 88 ].[ped-rheum.biomedcentral.com]
  • The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered.[epilepsydiagnosis.org]
  • Prognosis Some children with RAP will continue to have intermittent or constant IBS [ 40, 41 ]. IBS is more likely to persist where there is a family history of IBS [ 42 ].[patient.info]
  • […] rotated Nose: Angle pronounced, Large nose/bulbous tip, Prominent supraorbital ridge & bridge Lips: Full Eye Corneal opacity: Cornea verticillata Conjunctival & Retinal vessels: Tortuous Systemic, Other Episodic fever: 20 years Edema (50%) Hypothyroid Prognosis[neuromuscular.wustl.edu]

Etiology

  • It is yet to be determined whether the etiology of FHM3 and childhood seizures both result from sodium channelopathies affecting the brain.[jci.org]
  • For the purpose of discussion in this review, the terms “psychogenic” or “pseudoneurologic” will be used to refer to neurologic symptoms for which a psychologic etiology is suspected.[aafp.org]
  • Etiology The pathophysiology of chronic pain syndrome (CPS) is multifactorial and complex and still is poorly understood.[emedicine.medscape.com]
  • The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals.[epilepsydiagnosis.org]
  • Etiology and pathogenesis The specific causes of CRPS are unknown.[ped-rheum.biomedcentral.com]

Epidemiology

  • Related to Disuse of muscle Metabolic syndrome Pathology Skin biopsy: Reduced epidermal axon density Nerve biopsy Reduced numbers of small & large axons Inflammation: Epineurial vessels in some patients with severe pain & absent SNAPs 10 Epidemiology[neuromuscular.wustl.edu]
  • Relevant External Links for SCN10A Genetic Association Database (GAD) SCN10A Human Genome Epidemiology (HuGE) Navigator SCN10A Atlas of Genetics and Cytogenetics in Oncology and Haematology: SCN10A No data available for Genatlas for SCN10A Gene A tetrodotoxin-resistant[genecards.org]
  • Breivik, Oslo University Hospital, Oslo, Norway Senior Editors Torsten Gordh, Uppsala Universitet, Uppsala, Sweden Troels Jensen, Aarhus University, Aarhus, Denmark Eija Kalso, Helsinki University Central Hospital, Helsinki, Finland Clinical Science and Epidemiology[scandinavianjournalpain.com]
  • Opiate derived analgesics are also largely ineffective, with only sporadic cases of beneficial effect. [1] Epidemiology [ edit ] PEPD is an extremely rare disorder with only 15 known affected families. [2] There are some cases, however, of individuals[en.wikipedia.org]
  • This review summarizes the current information regarding the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric CRPS.[ped-rheum.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • This is further implied by the usefulness of posterior hypothalamus stimulation for the treatment of these disorders. 25,26 (See sidebar for more on pathophysiology of CH, page 64.)[practicalpainmanagement.com]
  • Ultimately better knowledge of underlying pathophysiology in these heritable pain conditions may inform the development of novel treatments.[clinicaltrials.gov]
  • The mechanism underlying the pathophysiology of FHM2 may include increased extracellular K concentration due to altered pump action or an increase in intracellular Ca 2 concentrations that leads to CSD ( 46, 52 ).[jci.org]
  • Pathophysiology The pathophysiology involves a dysregulation of visceral nerve pathways, leading to visceral hyperalgesia. Infective, inflammatory or psychological triggers may initiate this sensitisation [ 11, 12 ].[patient.info]
  • Such altered firing will cause increased pain sensation and increased sympathetic nervous system activity, producing the phenotype observed in patients with PEPD. [2] Pathophysiology [ edit ] There are a total of 8 mutations that account for the disorder[en.wikipedia.org]

Prevention

  • In this way, episodes can usually be prevented (in 60 percent of patients completely prevented, in 33 percent partially prevented, and in about 5 percent colchicine is not effective) and amyloidosis can be prevented in 100 percent of patients.[my.clevelandclinic.org]
  • Research Summary My research aim is to gain a better understanding of the response of the nervous system to injury in order to develop strategies to promote peripheral nerve repair and to prevent the development of neuropathic pain.[ndcn.ox.ac.uk]
  • Clinically, colchicine prevents acute attacks and serum amyloid A amyloidosis. It is thought that a major effect is in modulating microtubules in neutrophils.[clevelandclinicmeded.com]
  • If/when the restrictive diet is not tolerable or does not prevent symptoms, the child's sense of being failed may make solving the problem more difficult.[patient.info]
  • On the prevention of migraine -focus on exercise and the patient's perspective. Doctoral Theses, University of Goteborgs. S. Darabaneanul, C. H. Overath1, D. Rubin, S. Lüthje, W. Sye, U. Niederberger1, W.-D. Gerber1, B. Weisser.[physio-pedia.com]

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