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Painless fractures due to injury

MedGen UID:
325208
Concept ID:
C1837602
Finding
HPO: HP:0002661

Definition

An increased tendency to fractures following trauma, with fractures occurring without pain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPainless fractures due to injury

Conditions with this feature

Congenital sensory neuropathy with selective loss of small myelinated fibers
MedGen UID:
6916
Concept ID:
C0020075
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MedGen UID:
338045
Concept ID:
C1850406
Disease or Syndrome
MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
MedGen UID:
344563
Concept ID:
C1855739
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Neuropathy, hereditary sensory and autonomic, type 2A
MedGen UID:
416701
Concept ID:
C2752089
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Indifference to pain, congenital, autosomal dominant
MedGen UID:
1613569
Concept ID:
C4538468
Disease or Syndrome
Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018).

Professional guidelines

PubMed

Holick MF
Drugs Aging 2007;24(12):1017-29. doi: 10.2165/00002512-200724120-00005. PMID: 18020534
Chantelau E, Kimmerle R, Poll LW
Clin Podiatr Med Surg 2007 Jul;24(3):483-503, ix. doi: 10.1016/j.cpm.2007.03.006. PMID: 17613387
Gardner MJ, Demetrakopoulos D, Shindle MK, Griffith MH, Lane JM
Minerva Med 2005 Oct;96(5):343-52. PMID: 16227949

Recent clinical studies

Etiology

Anazor FC, Dhinsa BS
Br J Hosp Med (Lond) 2023 Feb 2;84(2):1-9. Epub 2023 Feb 20 doi: 10.12968/hmed.2022.0211. PMID: 36848162
Koniec W, Marczyński W
Ortop Traumatol Rehabil 2022 Apr 30;24(2):95-106. doi: 10.5604/01.3001.0015.8267. PMID: 35550357
Polat O, Toy S, Kibar B
Jt Dis Relat Surg 2021;32(3):721-728. Epub 2021 Nov 19 doi: 10.52312/jdrs.2021.298. PMID: 34842105Free PMC Article
Kim SY, Chim H, Bishop AT, Shin AY
Hand (N Y) 2017 Mar;12(2):140-144. Epub 2016 Jul 7 doi: 10.1177/1558944716643305. PMID: 28344524Free PMC Article
Muminagic S, Hodjic F, Muharemovic R, Oruc M
Med Arch 2012;66(4):265-70. doi: 10.5455/medarh.2012.66.265-270. PMID: 22919884

Diagnosis

Giddins G
Hand Clin 2022 Aug;38(3):281-288. doi: 10.1016/j.hcl.2022.02.005. PMID: 35985751
Demirturk Kocasarac H, Angelopoulos C
Dent Clin North Am 2018 Jul;62(3):481-489. doi: 10.1016/j.cden.2018.03.007. PMID: 29903563
Levin LS, Rozell JC, Pulos N
J Am Acad Orthop Surg 2017 Mar;25(3):179-187. doi: 10.5435/JAAOS-D-15-00676. PMID: 28199291
Muminagic S, Hodjic F, Muharemovic R, Oruc M
Med Arch 2012;66(4):265-70. doi: 10.5455/medarh.2012.66.265-270. PMID: 22919884
Levine RA
Radiol Clin North Am 1987 May;25(3):447-69. PMID: 3554331

Therapy

Zoccali C, Attala D, Pugliese M, di Uccio AS, Baldi J
BMC Musculoskelet Disord 2021 Jan 11;22(1):63. doi: 10.1186/s12891-020-03927-6. PMID: 33430839Free PMC Article
Kim SY, Chim H, Bishop AT, Shin AY
Hand (N Y) 2017 Mar;12(2):140-144. Epub 2016 Jul 7 doi: 10.1177/1558944716643305. PMID: 28344524Free PMC Article
Chantelau E, Kimmerle R, Poll LW
Clin Podiatr Med Surg 2007 Jul;24(3):483-503, ix. doi: 10.1016/j.cpm.2007.03.006. PMID: 17613387
Trivedi JM
Eur J Radiol 2002 May;42(2):127-34. doi: 10.1016/s0720-048x(02)00045-1. PMID: 11976010
Szabo RM
Orthop Clin North Am 1992 Jan;23(1):1-6. PMID: 1729658

Prognosis

Zoccali C, Attala D, Pugliese M, di Uccio AS, Baldi J
BMC Musculoskelet Disord 2021 Jan 11;22(1):63. doi: 10.1186/s12891-020-03927-6. PMID: 33430839Free PMC Article
Vernhet E, De Boutray M, Hoarau R, Jammet P, Galmiche S, Breton I
J Oral Maxillofac Surg 2019 Dec;77(12):2523.e1-2523.e8. Epub 2019 Jul 5 doi: 10.1016/j.joms.2019.06.188. PMID: 31442415
Bolt C, O'Keeffe F, Finnegan P, Dickson K, Smit V, Fitzgerald MC, Mitra B
Injury 2018 Feb;49(2):279-283. Epub 2017 Oct 9 doi: 10.1016/j.injury.2017.10.009. PMID: 29132904
Varecka TF, Myeroff C
J Am Acad Orthop Surg 2017 Oct;25(10):673-683. doi: 10.5435/JAAOS-D-15-00683. PMID: 28953082
Chantelau E, Onvlee GJ
Horm Metab Res 2006 Jun;38(6):361-7. doi: 10.1055/s-2006-944525. PMID: 16823717

Clinical prediction guides

Schlemmer T, Brunner R, Speth B, Camathias C, Mayr J, Rutz E
Arch Orthop Trauma Surg 2022 Dec;142(12):3667-3674. Epub 2021 May 28 doi: 10.1007/s00402-021-03970-5. PMID: 34050376
Angelini A, Mavrogenis AF, Pagliarini E, Trovarelli G, Fanelli GN, Cappellesso R, Ruggieri P
Medicina (Kaunas) 2019 Aug 28;55(9) doi: 10.3390/medicina55090542. PMID: 31466356Free PMC Article
Kim SY, Chim H, Bishop AT, Shin AY
Hand (N Y) 2017 Mar;12(2):140-144. Epub 2016 Jul 7 doi: 10.1177/1558944716643305. PMID: 28344524Free PMC Article
Celli A, Nicoli E
Chir Organi Mov 2004 Jan-Mar;89(1):7-19. PMID: 15382581
Sharma S, Gopalakrishnan L, Yadav SS
Int Surg 1982 Oct-Dec;67(4 Suppl):547-50. PMID: 7183646

Recent systematic reviews

Hazan J, Azzi AJ, Thibaudeau S
Hand (N Y) 2019 Jan;14(1):19-26. Epub 2018 Sep 21 doi: 10.1177/1558944718798856. PMID: 30239220Free PMC Article

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