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Familial Episodic Pain Syndrome

FEPS


Presentation

  • Acronym FEPS1 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]
  • 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]
  • […] and may be present in other disorders.[merckmanuals.com]
  • PEPD symptoms are reminiscent of primary erythromelalgia, as both result in flushing and episodic pain, though pain is typically present in the extremities for primary erythromelalgia.[en.wikipedia.org]
Pain
  • Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states.[ncbi.nlm.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]
  • We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress.[f1000.com]
  • Definition An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress.[uniprot.org]
Episodic Pain
  • 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]
  • These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain.[ncbi.nlm.nih.gov]
  • 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]
  • We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress.[f1000.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]
  • 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]
  • FEPS is associated with episodes of debilitating upper body pain that are usually triggered by fasting, physical stress, or fatigue.[sciencedaily.com]
  • Signs & Symptoms Patients with FCAS experience mild to debilitating symptoms such as rash, fatigue, recurrent fever and chills, recurrent joint pain, and recurrent conjunctivitis (inflammation of the outer most layer of the eye causing redness, discomfort[rarediseases.org]
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]
  • The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall.[uniprot.org]
  • 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]
Limb Pain
  • A randomized controlled trial investigating the effect of viewing a 'virtual' limb upon phantom limb pain, sensation and movement. European Journal of Pain, 11(4): 428-436. Dubinsky RM, et al. (2010).[northshore.org]
  • 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]
Abdominal Pain Relieved by Food
  • pain relieved by food and antacids May awaken patient at night Endoscopy and biopsy for Helicobacter pylori H. pylori breath test Evaluation of NSAID use Stool examination for occult blood Postoperative adhesive bands Previous abdominal surgery Colicky[merckmanuals.com]
Increased Appetite
  • It has known side-effects of drowsiness, increased appetite, and gastrointestinal disturbances [ 34 ]. H 2 -receptor antagonists : famotidine is effective in children with severe dyspeptic symptoms.[patient.info]
Bruxism
  • Additional conditions that may also occur in these patients include episodes of motion sickness and periodic sleep disorders including sleep walking, sleep talking, night terrors and bruxism.[ichd-3.org]
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]
  • The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall.[uniprot.org]
  • Other symptoms include breathing difficulties, tachycardia, peribuccal cyanosis, and stiffness of the abdominal wall. Recent studies have also linked the gene to cardiovascular disease and changes in blood pressure.[cags.org.ae]
  • […] 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]
Cyanosis
  • The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall.[uniprot.org]
  • Other symptoms include breathing difficulties, tachycardia, peribuccal cyanosis, and stiffness of the abdominal wall. Recent studies have also linked the gene to cardiovascular disease and changes in blood pressure.[cags.org.ae]
  • Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode.[epilepsydiagnosis.org]
Blurred Vision
  • Other symptoms include profuse sweating, drowsiness, headache, extreme thirst, red eyes, blurred vision, eye pain, watering eyes and nausea Symptoms occur within hours after exposure to cold.[rarediseases.org]
  • Chronic orthostatic intolerance / the postural orthostatic tachycardia syndrome (POTS) in adolescents and adults can produce symptoms of light-headedness, dizziness, blurred vision, sweating, headache and nausea.[epilepsydiagnosis.org]
Suggestibility
  • These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain.[ncbi.nlm.nih.gov]
  • The gene TRPA1 carried a SNP rs12541758_T that showed a suggestive association with CAD [p 3.87E-07, OR 1.25(1.15-1.36)].[cags.org.ae]
  • 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]
  • Pharmacological compounds that are known to inhibit the normal channel were effective at inhibiting the mutant channel as well, suggesting that drugs that inhibit TRPA1 may prove to be a useful therapy for FEPS.[sciencedaily.com]
Visual Hallucination
  • Visual hallucinations and dreamlike experiences may occur but unlike epileptic seizures these are not stereotyped. Stiffening and tonic-clonic movements occur in at least 50% of syncopes.[epilepsydiagnosis.org]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Irritability
  • Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane segment of TRPA1, a key sensor for environmental irritants.[ncbi.nlm.nih.gov]
  • It is believed to be involved in the transduction machinery through which volatile external irritants and endogenous inflammatory mediators depolarize nociceptors to elicit pain.[cags.org.ae]
  • Genetics of irritable bowel syndrome. Am J Gastroenterol 2008;103:2100-4. 12. Prithvi Raj P, Erdine S. Pain-relieving procedures: The illustrated guide. 1 st ed. Ch. 1. p. 7.[samobathi.com]
  • "It was already established that TRPA1 is expressed in pain receptors in rodents and humans and that it plays an important role in response to environmental irritants in mouse models," says Dr. Ruiz-Linares.[sciencedaily.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]
  • Abstract Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons.[ncbi.nlm.nih.gov]
  • neuropathy ; SFN, small fibre neuropathy ; TTX, tetrodotoxin ; VGSC, voltage-gated sodium channel 2016 The Author(s). published by Portland Press Limited on behalf of the Biochemical Society View Full Text Log in using your username and password Log[clinsci.org]
  • This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants.[genecards.org]
  • Test Catalog Invitae Small Fiber Neuropathy Test Test description The Invitae Small Fiber Neuropathy Test analyzes up to two genes that are associated with small fiber neuropathy ( SFNP ), a type of peripheral neuropathy characterized by severe pain episodes[invitae.com]
Hyperalgesia
  • Quantitative sensory testing demonstrated normal baseline sensory thresholds but an enhanced secondary hyperalgesia to punctate stimuli on treatment with mustard oil.[ncbi.nlm.nih.gov]
  • […] additionally implicate SCN10A in previously unknown functions in the central nervous system and heart plays a critical role in pain perception activation of ASIC3 and TRPV1 as well as enhanced SCN10A activity are essential for the development of long-lasting hyperalgesia[genatlas.medecine.univ-paris5.fr]
  • 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]
Neuralgia
  • */genetics Neuralgia*/metabolism Neuralgia*/physiopathology Pedigree Syndrome Substances NAV1.9 Voltage-Gated Sodium Channel SCN11A protein, human Scn11a protein, mouse[ncbi.nlm.nih.gov]
  • Decompression Decompression is a type of surgery used for nerve pain, such as from trigeminal neuralgia . The doctor cuts open your skin and then tries to move away blood vessels or other body structures that are pressing on nerves and causing pain.[northshore.org]
Tremor
  • […] syndrome Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal, segmental or multifocal dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor[se-atlas.de]
  • During the episodes the individual may have dysarthria, limb and gait ataxia and titubation (coarse tremor) of the head.[epilepsydiagnosis.org]

Treatment

  • Quantitative sensory testing demonstrated normal baseline sensory thresholds but an enhanced secondary hyperalgesia to punctate stimuli on treatment with mustard oil.[ncbi.nlm.nih.gov]
  • 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]
  • If you delay treatment, the pain may get worse.[northshore.org]
  • What are the treatments for TRAPS? There is still no proven definitive treatment to prevent or cure the disease.[my.clevelandclinic.org]

Prognosis

  • 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]

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]
  • The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals.[epilepsydiagnosis.org]
  • […] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]

Epidemiology

  • 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]
  • Epidemiology [ 8 ] RAP affects 10-20% of school-aged children worldwide [ 9 ]. 3-8% of children with this pattern of pain have a causative organic pathology (and are excluded from the Rome definition of RAP). They usually have 'alarm' features.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined.[epilepsydiagnosis.org]

Prevention

  • ., Shinagawa-ku, Tokyo, Japan. 5 Okazaki Institute for Integrative Bioscience, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi, Japan. 6 Department of Preventive Medicine, St.[ncbi.nlm.nih.gov]
  • 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]
  • Broader health impacts of Familial Mediterranean Fever and how to prevent them The most severe complication of untreated FMF is the development of amyloidosis.[rheumatology.org]
  • Treatments are supportive and preventative. Supportive therapies include medications to maintain and regulate cardiovascular, respiratory, and gastrointestinal function.[familialdysautonomia.org]
  • 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]

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