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Familial Episodic Pain Syndrome Type 1

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]
  • Case Presentation This 63-year-old woman is a member of a family with FHM1 and cerebellar ataxia.[karger.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]
  • A summary of IBS therapies is presented in Table 3. 18 – 34 Enlarge Print Table 3.[aafp.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]
  • 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]
  • 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 topic is for people with chronic pain caused by problems other than cancer. If you are looking for information on pain caused by cancer, see the topic Cancer Pain . What is chronic pain? Pain that lasts for 3 months or longer is called chronic.[northshore.org]
  • 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]
  • We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress.[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]
  • ] 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]
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]
  • We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress.[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]
  • ] 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]
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]
  • 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]
  • Side effects seen more often in people taking CBD included diarrhea, vomiting, fatigue, fever, sleepiness and abnormal results on liver function tests. What's the outlook? Seizures are refractory to medications in people with Dravet Syndrome.[epilepsy.com]
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]
  • […] 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]
Dyspnea
  • […] neuronal potassium channelopathy, Neurotherapeutics, 2007 , vol. 4 (pg. 258 - 66 ) Three novel KCNA1 mutations in episodic ataxia type I families, Hum Genet, 1998 , vol. 102 (pg. 464 - 6 ) Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea[academic.oup.com]
Xerostomia
  • […] palate (Anterior) & Inner lip Bilateral (85%) Not in distribution of single peripheral nerve Temporal Reduced in morning Increases through day Not aggravated by eating or drinking No effect on sleep Taste: Lost or Altered (Bitter, Metallic) Dry mouth (Xerostomia[neuromuscular.wustl.edu]
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]
  • Postural orthostatic tachycardia syndrome Postural orthostatic tachycardia syndrome (POTS) affects between 1 and 3 million people in the United States (U.S.). Around 80 percent of them are female.[medicalnewstoday.com]
  • […] 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]
  • Review of vital signs should particularly note presence of fever or tachycardia. General examination should seek presence of jaundice, skin rash, and peripheral edema.[merckmanuals.com]
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]
  • : Infancy Triggers Types: Fasting, Fatigue, Cold, Illness, Physical exertion Combination of factors more likely to precipitate episodes Episodes Upper body pain: Severe Breathing difficulties Tachycardia Sweating Pallor generalized pallor Peribuccal cyanosis[neuromuscular.wustl.edu]
  • Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode.[epilepsydiagnosis.org]
  • […] warmth and swelling triggered by stress/light touch, bone demineralization, skin trophic changes stage 2 dystrophic phase/Sudek's atrophy; lasting for several months; characterized by constant unrelenting pain, exacerbated by any stimulus, and tissue cyanosis[medical-dictionary.thefreedictionary.com]
  • Autonomic findings Autonomic findings of the affected limb include swelling and edema, temperature changes (usually the affected limb is cooler), hyperhidrosis, changes in skin color, cyanosis and sensitivity to cold, and mottled, dry skin [ 3, 5, 47[ped-rheum.biomedcentral.com]
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]
  • The irritable bowel severity scoring system: a simple method of monitoring irritable bowel syndrome and its progress. Aliment Pharmacol Ther. 1997;11(2):401.[aafp.org]
  • Previously used terms: Chronic abdominal pain; functional abdominal pain; functional dyspepsia; irritable bowel syndrome; functional abdominal pain syndrome.[ichd-3.org]
  • (serotonin) receptor 1A, G protein-coupled 5 63960048: 63962292 GPCR for serotonin thermal pain perception HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13 47,407,513: 47,470,369 receptor for the neurotransmitter serotonin musculoskeletal pain, irritable[painresearchforum.org]
  • 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.[indianjpain.org]
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]
  • An electrodiagnostic approach to the evaluation of peripheral neuropathies. Phys Med Rehabil Clin N Am [Internet]. 2013 Feb [cited 2015 Dec 25];24(1):153–68.[jrmds.in]
  • neuropathy) The symptoms of Friedreich's ataxia usually get gradually worse over many years.[nhs.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]
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]
  • […] in anesthetic skin Laboratory HLA-DQ1 association: 69% vs 42% in controls Quantitative sensory testing: Patients with sympathetic maintained pain Warm thresholds: Increased Hyperalgesia to painful cold stimuli X-ray: Osteoporosis Patchy Time: After 4[neuromuscular.wustl.edu]
  • Symptoms include limb pain; allodynia; hyperalgesia; swelling and/or changes in skin color of the affected limb; dry, mottled skin; hyperhidrosis and trophic changes of the nails and hair.[ped-rheum.biomedcentral.com]
  • Because of central sensitization phenomena, the areas of allodynia and hyperalgesia may extend beyond the innervation territory. 35 4.3.[journals.lww.com]
  • 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]
Upbeat Nystagmus
  • Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. Cerebellum 2014;13:411–413. 11. Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, et al.[e-jmd.org]
Neglect
  • Remember also to be alert to any features suggestive of child abuse, including sexual abuse and neglect [ 23 ].[patient.info]

Workup

  • Clinical Testing and Workup Blood tests can reveal reduced activity of the lipoprotein lipase enzyme in the plasma, following intravenous administration of heparin.[rarediseases.org]
  • 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]
  • 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]
  • If you delay treatment, the pain may get worse.[northshore.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]
  • As a result, there is no cure and no treatment. This is because of its slow progression. Treatment can, however, manage specific symptoms through lifestyle changes and medications.[medicalnewstoday.com]

Prognosis

  • Atherosclerosis (2003) [ Pubmed ] Prognosis in threatened abortion evaluated by hormone assays and ultrasound scanning. Eriksen, P.S., Philipsen, T.[wikigenes.org]
  • Other reports concluded that the prognosis of pediatric CRPS is not as favorable as reported [ 87, 88 ].[ped-rheum.biomedcentral.com]
  • Systematic review and meta-analysis: the incidence and prognosis of post-infectious irritable bowel syndrome. Aliment Pharmacol Ther. 2007;26(4):535–544. 11. Longstreth GF, Thompson WG, Chey WD, Houghton LA, Mearin F, Spiller RC.[aafp.org]
  • 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]
  • Etiology and Pathophysiology One study showed a threefold increase in the risk of IBS in persons with an immediate family member who has had the condition. 4 In addition to genetics, other possible etiologies for IBS include disturbances in gastrointestinal[aafp.org]
  • 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]
  • , Sensory or Normal Pathology: Proximal & Distal axon loss in skin Clinical syndrome: Non-length dependent Small fiber polyneuropathy (SFPN) 18 Age Range: 19 to 72 years Mean 46 years Epidemiology vs Length dependent SFPN Younger Females more common Etiologies[neuromuscular.wustl.edu]

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]
  • This review summarizes the current information regarding the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric CRPS.[ped-rheum.biomedcentral.com]
  • 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

  • Therefore an interplay between neural and vasoactive agents may be involved in the pathophysiology of EM. erythromelalgia laser Doppler flowmetry skin sympathetic activity vasoconstriction The Biochemical Society and the Medical Research Society 1999[clinsci.org]
  • Ultimately better knowledge of underlying pathophysiology in these heritable pain conditions may inform the development of novel treatments.[clinicaltrials.gov]
  • This is less than the expected yearly reduction of approximately 8% in DAT availability in patients with iPD and suggests a different pathophysiological mechanism [ 15 ].[karger.com]
  • 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]

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]
  • The damaged spine prevents pain messages from reaching the brain. The ANS reacts inappropriately, producing severe spikes in blood pressure.[medicalnewstoday.com]
  • […] worsening global IBS symptoms† 22, 23 Antibiotics Rifaximin (Xifaxan) Diarrhea-predominant, mixed presentation NNT 11 to prevent worsening global IBS symptoms over four weeks Neomycin Constipation-predominant Improves constipation and bloating 24, 25[aafp.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]
  • However, many physicians recommend reducing fat intake significantly to no more than 20 g/day or 15 percent of total energy intake in order to prevent symptoms.[rarediseases.org]

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