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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
A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.
Cluster headache, familial
MedGen UID:
350040
Concept ID:
C1861513
Disease or Syndrome
The Headache Classification Committee 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 3
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 with predominantly lower limb involvement
MedGen UID:
816229
Concept ID:
C3809899
Disease or Syndrome
Familial episodic pain syndrome-3 (FEPS3) 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).
Primary coenzyme Q10 deficiency 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 2A2
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.
Intellectual developmental disorder, X-linked 112
MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).
Congenital disorder of deglycosylation 1
MedGen UID:
989503
Concept ID:
CN306977
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.

Professional guidelines

PubMed

Gibbs D, McGahan BG, Ropper AE, Xu DS
Neurol Clin 2023 Feb;41(1):61-76. Epub 2022 Oct 29 doi: 10.1016/j.ncl.2022.07.002. PMID: 36400559
Vuurberg G, Hoorntje A, Wink LM, van der Doelen BFW, van den Bekerom MP, Dekker R, van Dijk CN, Krips R, Loogman MCM, Ridderikhof ML, Smithuis FF, Stufkens SAS, Verhagen EALM, de Bie RA, Kerkhoffs GMMJ
Br J Sports Med 2018 Aug;52(15):956. Epub 2018 Mar 7 doi: 10.1136/bjsports-2017-098106. PMID: 29514819
Chou R, Gordon DB, de Leon-Casasola OA, Rosenberg JM, Bickler S, Brennan T, Carter T, Cassidy CL, Chittenden EH, Degenhardt E, Griffith S, Manworren R, McCarberg B, Montgomery R, Murphy J, Perkal MF, Suresh S, Sluka K, Strassels S, Thirlby R, Viscusi E, Walco GA, Warner L, Weisman SJ, Wu CL
J Pain 2016 Feb;17(2):131-57. doi: 10.1016/j.jpain.2015.12.008. PMID: 26827847

Recent clinical studies

Etiology

Kelly RB, Willis J
Am Fam Physician 2019 Jul 15;100(2):89-96. PMID: 31305037
Patil S, Sen S, Bral M, Reddy S, Bradley KK, Cornett EM, Fox CJ, Kaye AD
Curr Pain Headache Rep 2016 Apr;20(4):22. doi: 10.1007/s11916-016-0552-1. PMID: 26896946
Violante FS, Mattioli S, Bonfiglioli R
Handb Clin Neurol 2015;131:397-410. doi: 10.1016/B978-0-444-62627-1.00020-2. PMID: 26563799
Cartwright SL, Knudson MP
Am Fam Physician 2008 Apr 1;77(7):971-8. PMID: 18441863
Haefeli M, Elfering A
Eur Spine J 2006 Jan;15 Suppl 1(Suppl 1):S17-24. Epub 2005 Dec 1 doi: 10.1007/s00586-005-1044-x. PMID: 16320034Free PMC Article

Diagnosis

Kang Y, Trewern L, Jackman J, McCartney D, Soni A
BMJ 2023 Jun 27;381:e076036. doi: 10.1136/bmj-2023-076036. PMID: 37369384
Osborne NR, Davis KD
Int Rev Neurobiol 2022;164:277-307. Epub 2022 Jul 30 doi: 10.1016/bs.irn.2022.06.013. PMID: 36038207
Urits I, Burshtein A, Sharma M, Testa L, Gold PA, Orhurhu V, Viswanath O, Jones MR, Sidransky MA, Spektor B, Kaye AD
Curr Pain Headache Rep 2019 Mar 11;23(3):23. doi: 10.1007/s11916-019-0757-1. PMID: 30854609
Meints SM, Edwards RR
Prog Neuropsychopharmacol Biol Psychiatry 2018 Dec 20;87(Pt B):168-182. Epub 2018 Jan 31 doi: 10.1016/j.pnpbp.2018.01.017. PMID: 29408484Free PMC Article
Violante FS, Mattioli S, Bonfiglioli R
Handb Clin Neurol 2015;131:397-410. doi: 10.1016/B978-0-444-62627-1.00020-2. PMID: 26563799

Therapy

Lim CY, In J
Korean J Anesthesiol 2019 Jun;72(3):221-232. Epub 2019 Apr 1 doi: 10.4097/kja.19049. PMID: 30929415Free PMC Article
Dworkin RH, Turk DC, Peirce-Sandner S, Baron R, Bellamy N, Burke LB, Chappell A, Chartier K, Cleeland CS, Costello A, Cowan P, Dimitrova R, Ellenberg S, Farrar JT, French JA, Gilron I, Hertz S, Jadad AR, Jay GW, Kalliomäki J, Katz NP, Kerns RD, Manning DC, McDermott MP, McGrath PJ, Narayana A, Porter L, Quessy S, Rappaport BA, Rauschkolb C, Reeve BB, Rhodes T, Sampaio C, Simpson DM, Stauffer JW, Stucki G, Tobias J, White RE, Witter J
Pain 2010 May;149(2):177-193. Epub 2010 Mar 6 doi: 10.1016/j.pain.2010.02.018. PMID: 20207481
Bellamy N, Buchanan WW, Goldsmith CH, Campbell J, Stitt LW
J Rheumatol 1988 Dec;15(12):1833-40. PMID: 3068365
Johnson CD, Budd J, Ward AJ
Dis Colon Rectum 1987 Oct;30(10):780-1. doi: 10.1007/BF02554626. PMID: 2820672
Bloomfield SS, Mitchell J, Cissell G, Barden TP
Pain 1986 Nov;27(2):171-179. doi: 10.1016/0304-3959(86)90208-3. PMID: 3540812

Prognosis

Burton JK, Craig LE, Yong SQ, Siddiqi N, Teale EA, Woodhouse R, Barugh AJ, Shepherd AM, Brunton A, Freeman SC, Sutton AJ, Quinn TJ
Cochrane Database Syst Rev 2021 Jul 19;7(7):CD013307. doi: 10.1002/14651858.CD013307.pub2. PMID: 34280303Free PMC Article
Safiri S, Kolahi AA, Cross M, Hill C, Smith E, Carson-Chahhoud K, Mansournia MA, Almasi-Hashiani A, Ashrafi-Asgarabad A, Kaufman J, Sepidarkish M, Shakouri SK, Hoy D, Woolf AD, March L, Collins G, Buchbinder R
Arthritis Rheumatol 2021 Apr;73(4):702-714. Epub 2021 Feb 22 doi: 10.1002/art.41571. PMID: 33150702
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Hanly JG, O'Keeffe AG, Su L, Urowitz MB, Romero-Diaz J, Gordon C, Bae SC, Bernatsky S, Clarke AE, Wallace DJ, Merrill JT, Isenberg DA, Rahman A, Ginzler EM, Fortin P, Gladman DD, Sanchez-Guerrero J, Petri M, Bruce IN, Dooley MA, Ramsey-Goldman R, Aranow C, Alarcón GS, Fessler BJ, Steinsson K, Nived O, Sturfelt GK, Manzi S, Khamashta MA, van Vollenhoven RF, Zoma AA, Ramos-Casals M, Ruiz-Irastorza G, Lim SS, Stoll T, Inanc M, Kalunian KC, Kamen DL, Maddison P, Peschken CA, Jacobsen S, Askanase A, Theriault C, Thompson K, Farewell V
Rheumatology (Oxford) 2016 Feb;55(2):252-62. Epub 2015 Sep 5 doi: 10.1093/rheumatology/kev311. PMID: 26342222Free PMC Article
Prisant LM, Nalamolu VR
J Clin Hypertens (Greenwich) 2005 Jun;7(6):367-71. doi: 10.1111/j.1524-6175.2005.04116.x. PMID: 16088302Free PMC Article

Clinical prediction guides

Jonsson A, Rasmussen-Barr E
Physiother Theory Pract 2018 Mar;34(3):165-180. Epub 2017 Nov 7 doi: 10.1080/09593985.2017.1390806. PMID: 29111857
Arana E, Kovacs FM, Royuela A, Asenjo B, Pérez-Ramírez Ú, Zamora J; Spanish Back Pain Research Network Task Force for the Improvement of Inter-Disciplinary Management of Spinal Metastasis
J Natl Compr Canc Netw 2016 Jan;14(1):70-6. Epub 2016 Jan 5 doi: 10.6004/jnccn.2016.0008. PMID: 26733556
Scott IC, Scott DL
Clin Exp Rheumatol 2014 Sep-Oct;32(5 Suppl 85):S-7-12. Epub 2014 Oct 30 PMID: 25365082
Hoy D, Brooks P, Woolf A, Blyth F, March L, Bain C, Baker P, Smith E, Buchbinder R
J Clin Epidemiol 2012 Sep;65(9):934-9. Epub 2012 Jun 27 doi: 10.1016/j.jclinepi.2011.11.014. PMID: 22742910
Malviya S, Voepel-Lewis T, Burke C, Merkel S, Tait AR
Paediatr Anaesth 2006 Mar;16(3):258-65. doi: 10.1111/j.1460-9592.2005.01773.x. PMID: 16490089

Recent systematic reviews

Knopp-Sihota JA, MacGregor T, Reeves JTH, Kennedy M, Saleem A
J Am Med Dir Assoc 2022 Sep;23(9):1507-1516.e0. Epub 2022 May 18 doi: 10.1016/j.jamda.2022.04.008. PMID: 35594944
Hayden JA, Ellis J, Ogilvie R, Stewart SA, Bagg MK, Stanojevic S, Yamato TP, Saragiotto BT
J Physiother 2021 Oct;67(4):252-262. Epub 2021 Sep 16 doi: 10.1016/j.jphys.2021.09.004. PMID: 34538747
Lew J, Kim J, Nair P
J Man Manip Ther 2021 Jun;29(3):136-146. Epub 2020 Sep 22 doi: 10.1080/10669817.2020.1822618. PMID: 32962567Free PMC Article
Karcioglu O, Topacoglu H, Dikme O, Dikme O
Am J Emerg Med 2018 Apr;36(4):707-714. Epub 2018 Jan 6 doi: 10.1016/j.ajem.2018.01.008. PMID: 29321111
Jafari H, Courtois I, Van den Bergh O, Vlaeyen JWS, Van Diest I
Pain 2017 Jun;158(6):995-1006. doi: 10.1097/j.pain.0000000000000865. PMID: 28240995

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