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Pain

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
Synonyms: Dolor; Pain observations; Painful; Part hurts
SNOMED CT: Pain observations (22253000); Pain (22253000); Dolor (22253000); Painful (22253000); Part hurts (22253000)
 
HPO: HP:0012531

Definition

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Pain

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).
Thromboangiitis obliterans
MedGen UID:
21531
Concept ID:
C0040021
Disease or Syndrome
Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.
Epithelial recurrent erosion dystrophy
MedGen UID:
342263
Concept ID:
C1852551
Disease or Syndrome
Epithelial recurrent erosion dystrophy is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016).
Cluster headache, familial
MedGen UID:
350040
Concept ID:
C1861513
Disease or Syndrome
The classification for headache disorders of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004).
Leukocyte adhesion deficiency, type III
MedGen UID:
411605
Concept ID:
C2748536
Disease or Syndrome
Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.
Familial episodic pain syndrome 1
MedGen UID:
814997
Concept ID:
C3808667
Disease or Syndrome
Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). Genetic Heterogeneity of Familial Episodic Pain Syndrome See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22.
Congenital disorder of deglycosylation
MedGen UID:
815321
Concept ID:
C3808991
Disease or Syndrome
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.
Episodic pain syndrome, familial, 3
MedGen UID:
816229
Concept ID:
C3809899
Disease or Syndrome
Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013). For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040).
Coenzyme Q10 deficiency, primary, 8
MedGen UID:
908648
Concept ID:
C4225226
Disease or Syndrome
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
Charcot-Marie-Tooth disease, type 2A2A
MedGen UID:
1648317
Concept ID:
C4721887
Disease or Syndrome
MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.

Recent clinical studies

Etiology

Peerdeman KJ, Geers AL, Della Porta D, Veldhuijzen DS, Kirsch I
Pain 2021 Jul 1;162(7):2024-2035. doi: 10.1097/j.pain.0000000000002199. PMID: 33470747
Burek DJ, Massaly N, Doering M, Zec A, Gaelen J, Morón JA
Pain 2021 Jun 1;162(6):1705-1721. doi: 10.1097/j.pain.0000000000002179. PMID: 33433146Free PMC Article
Müller M, Bütikofer L, Andersen OK, Heini P, Arendt-Nielsen L, Jüni P, Curatolo M
Pain 2021 Jan;162(1):184-194. doi: 10.1097/j.pain.0000000000002006. PMID: 33035044
Forstenpointner J, Ruscheweyh R, Attal N, Baron R, Bouhassira D, Enax-Krumova EK, Finnerup NB, Freynhagen R, Gierthmühlen J, Hansson P, Jensen TS, Maier C, Rice ASC, Segerdahl M, Tölle T, Treede RD, Vollert J
Pain 2021 Mar 1;162(3):718-727. doi: 10.1097/j.pain.0000000000002058. PMID: 32868752
Pain LAM, Baker R, Sohail QZ, Hebert D, Zabjek K, Richardson D, Agur AMR
Disabil Rehabil 2020 Oct;42(21):3072-3083. Epub 2019 Mar 23 doi: 10.1080/09638288.2019.1585487. PMID: 30907155

Diagnosis

Müller M, Bütikofer L, Andersen OK, Heini P, Arendt-Nielsen L, Jüni P, Curatolo M
Pain 2021 Jan;162(1):184-194. doi: 10.1097/j.pain.0000000000002006. PMID: 33035044
Forstenpointner J, Ruscheweyh R, Attal N, Baron R, Bouhassira D, Enax-Krumova EK, Finnerup NB, Freynhagen R, Gierthmühlen J, Hansson P, Jensen TS, Maier C, Rice ASC, Segerdahl M, Tölle T, Treede RD, Vollert J
Pain 2021 Mar 1;162(3):718-727. doi: 10.1097/j.pain.0000000000002058. PMID: 32868752
Raja SN, Carr DB, Cohen M, Finnerup NB, Flor H, Gibson S, Keefe FJ, Mogil JS, Ringkamp M, Sluka KA, Song XJ, Stevens B, Sullivan MD, Tutelman PR, Ushida T, Vader K
Pain 2020 Sep 1;161(9):1976-1982. doi: 10.1097/j.pain.0000000000001939. PMID: 32694387Free PMC Article
Steingrímsdóttir ÓA, Engdahl B, Hansson P, Stubhaug A, Nielsen CS
Pain 2020 Oct;161(10):2255-2262. doi: 10.1097/j.pain.0000000000001899. PMID: 32345913Free PMC Article
Heber S, Ciotu CI, Hartner G, Gold-Binder M, Ninidze N, Gleiss A, Kress HG, Fischer MJM
Pain 2020 Jul;161(7):1532-1541. doi: 10.1097/j.pain.0000000000001848. PMID: 32107360

Therapy

Haroutounian S, Arendt-Nielsen L, Belton J, Blyth FM, Degenhardt L, Di Forti M, Eccleston C, Finn DP, Finnerup NB, Fisher E, Fogarty AE, Gilron I, Hohmann AG, Kalso E, Krane E, Mohiuddin M, Moore RA, Rowbotham M, Soliman N, Wallace M, Zinboonyahgoon N, Rice ASC
Pain 2021 Jul 1;162(Suppl 1):S117-S124. doi: 10.1097/j.pain.0000000000002266. PMID: 34138827
Shabes P, C Rosenberger D, Henrich F, Greffrath W, Treede RD, Baumgärtner U, Magerl W
Pain 2021 Jan;162(1):275-286. doi: 10.1097/j.pain.0000000000002020. PMID: 32701656
Zhang K, Hannan E, Scholes-Robertson N, Baumgart A, Guha C, Kerklaan J, Hanson CS, Craig JC, Davison SN, Hecking M, Tong A
Pain 2020 Sep 1;161(9):1983-1994. doi: 10.1097/j.pain.0000000000001931. PMID: 32453133
Heber S, Ciotu CI, Hartner G, Gold-Binder M, Ninidze N, Gleiss A, Kress HG, Fischer MJM
Pain 2020 Jul;161(7):1532-1541. doi: 10.1097/j.pain.0000000000001848. PMID: 32107360
Pain LAM, Baker R, Sohail QZ, Hebert D, Zabjek K, Richardson D, Agur AMR
Disabil Rehabil 2020 Oct;42(21):3072-3083. Epub 2019 Mar 23 doi: 10.1080/09638288.2019.1585487. PMID: 30907155

Prognosis

Peerdeman KJ, Geers AL, Della Porta D, Veldhuijzen DS, Kirsch I
Pain 2021 Jul 1;162(7):2024-2035. doi: 10.1097/j.pain.0000000000002199. PMID: 33470747
Adamczyk WM, Manthey L, Domeier C, Szikszay TM, Luedtke K
Pain 2021 Jun 1;162(6):1771-1780. doi: 10.1097/j.pain.0000000000002186. PMID: 33449502
Lalouni M, Fust J, Vadenmark-Lundqvist V, Ehrsson HH, Kilteni K, Birgitta Jensen K
Pain 2021 May 1;162(5):1539-1544. doi: 10.1097/j.pain.0000000000002151. PMID: 33252451Free PMC Article
Müller M, Bütikofer L, Andersen OK, Heini P, Arendt-Nielsen L, Jüni P, Curatolo M
Pain 2021 Jan;162(1):184-194. doi: 10.1097/j.pain.0000000000002006. PMID: 33035044
Pain LAM, Baker R, Sohail QZ, Hebert D, Zabjek K, Richardson D, Agur AMR
Disabil Rehabil 2020 Oct;42(21):3072-3083. Epub 2019 Mar 23 doi: 10.1080/09638288.2019.1585487. PMID: 30907155

Clinical prediction guides

Peerdeman KJ, Geers AL, Della Porta D, Veldhuijzen DS, Kirsch I
Pain 2021 Jul 1;162(7):2024-2035. doi: 10.1097/j.pain.0000000000002199. PMID: 33470747
Adamczyk WM, Manthey L, Domeier C, Szikszay TM, Luedtke K
Pain 2021 Jun 1;162(6):1771-1780. doi: 10.1097/j.pain.0000000000002186. PMID: 33449502
Burek DJ, Massaly N, Doering M, Zec A, Gaelen J, Morón JA
Pain 2021 Jun 1;162(6):1705-1721. doi: 10.1097/j.pain.0000000000002179. PMID: 33433146Free PMC Article
Lalouni M, Fust J, Vadenmark-Lundqvist V, Ehrsson HH, Kilteni K, Birgitta Jensen K
Pain 2021 May 1;162(5):1539-1544. doi: 10.1097/j.pain.0000000000002151. PMID: 33252451Free PMC Article
Müller M, Bütikofer L, Andersen OK, Heini P, Arendt-Nielsen L, Jüni P, Curatolo M
Pain 2021 Jan;162(1):184-194. doi: 10.1097/j.pain.0000000000002006. PMID: 33035044

Recent systematic reviews

McCarron TL, MacKean G, Dowsett LE, Saini M, Clement F
Pain 2020 Aug;161(8):1708-1715. Epub 2020 Apr 1 doi: 10.1097/j.pain.0000000000001883. PMID: 32701831
Zhang K, Hannan E, Scholes-Robertson N, Baumgart A, Guha C, Kerklaan J, Hanson CS, Craig JC, Davison SN, Hecking M, Tong A
Pain 2020 Sep 1;161(9):1983-1994. doi: 10.1097/j.pain.0000000000001931. PMID: 32453133
Sprenger GP, van der Zwaan KF, Roos RAC, Achterberg WP
Pain 2019 Apr;160(4):773-783. doi: 10.1097/j.pain.0000000000001472. PMID: 30889051
Kunz M, Meixner D, Lautenbacher S
Pain 2019 Mar;160(3):535-549. doi: 10.1097/j.pain.0000000000001424. PMID: 30335682
Birnie KA, Hundert AS, Lalloo C, Nguyen C, Stinson JN
Pain 2019 Jan;160(1):5-18. doi: 10.1097/j.pain.0000000000001377. PMID: 30180088

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