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Avascular necrosis of femoral head, primary, 1(ANFH1)

MedGen UID:
1639295
•Concept ID:
C4551562
•
Disease or Syndrome
Synonyms: ANFH1; Avascular necrosis of femoral head, primary
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0054550
OMIM®: 608805

Definition

Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24. Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children. [from OMIM]

Clinical features

From HPO
Groin pain
MedGen UID:
536927
•Concept ID:
C0239783
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.
See: Feature record | Search on this feature
Hip pain
MedGen UID:
1643075
•Concept ID:
C4551516
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
See: Feature record | Search on this feature
Legg-Calve-Perthes disease
MedGen UID:
730669
•Concept ID:
C1442965
•
Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
See: Feature record | Search on this feature
Generalized osteoporosis
MedGen UID:
1639139
•Concept ID:
C4551680
•
Disease or Syndrome
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Tenth European Consensus Conference on Hyperbaric Medicine: recommendations for accepted and non-accepted clinical indications and practice of hyperbaric oxygen treatment.
Mathieu D, Marroni A, Kot J
Diving Hyperb Med 2017 Mar;47(1):24-32. doi: 10.28920/dhm47.1.24-32. PMID: 28357821Free PMC Article
Stem Cell Therapy for the Treatment of Hip Osteonecrosis: A 30-Year Review of Progress.
Hernigou P, Trousselier M, Roubineau F, Bouthors C, Chevallier N, Rouard H, Flouzat-Lachaniette CH
Clin Orthop Surg 2016 Mar;8(1):1-8. Epub 2016 Feb 13 doi: 10.4055/cios.2016.8.1.1. PMID: 26929793Free PMC Article
Osteonecrosis of the femoral head: etiology, imaging and treatment.
Malizos KN, Karantanas AH, Varitimidis SE, Dailiana ZH, Bargiotas K, Maris T
Eur J Radiol 2007 Jul;63(1):16-28. Epub 2007 Jun 6 doi: 10.1016/j.ejrad.2007.03.019. PMID: 17555906

Recent clinical studies

Etiology

Avascular Necrosis of Femoral Head-Overview and Current State of the Art.
Konarski W, Poboży T, Śliwczyński A, Kotela I, Krakowiak J, Hordowicz M, Kotela A
Int J Environ Res Public Health 2022 Jun 15;19(12) doi: 10.3390/ijerph19127348. PMID: 35742595Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Osteonecrosis of the femoral head.
Babis GC, Sakellariou V, Parvizi J, Soucacos P
Orthopedics 2011 Jan;34(1):39. doi: 10.3928/01477447-20101123-19. PMID: 21210589
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905
Osteonecrosis of the femoral head: etiology, imaging and treatment.
Malizos KN, Karantanas AH, Varitimidis SE, Dailiana ZH, Bargiotas K, Maris T
Eur J Radiol 2007 Jul;63(1):16-28. Epub 2007 Jun 6 doi: 10.1016/j.ejrad.2007.03.019. PMID: 17555906

Diagnosis

Avascular Necrosis of Femoral Head-Overview and Current State of the Art.
Konarski W, Poboży T, Śliwczyński A, Kotela I, Krakowiak J, Hordowicz M, Kotela A
Int J Environ Res Public Health 2022 Jun 15;19(12) doi: 10.3390/ijerph19127348. PMID: 35742595Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Italian experience on use of E.S.W. therapy for avascular necrosis of femoral head.
Russo S, Sadile F, Esposito R, Mosillo G, Aitanti E, Busco G, Wang CJ
Int J Surg 2015 Dec;24(Pt B):188-90. Epub 2015 Nov 27 doi: 10.1016/j.ijsu.2015.11.038. PMID: 26644278
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905
Osteonecrosis of the femoral head: etiology, imaging and treatment.
Malizos KN, Karantanas AH, Varitimidis SE, Dailiana ZH, Bargiotas K, Maris T
Eur J Radiol 2007 Jul;63(1):16-28. Epub 2007 Jun 6 doi: 10.1016/j.ejrad.2007.03.019. PMID: 17555906

Therapy

Evidence-Supported HBO Therapy in Femoral Head Necrosis: A Systematic Review and Meta-Analysis.
Paderno E, Zanon V, Vezzani G, Giacon TA, Bernasek TL, Camporesi EM, Bosco G
Int J Environ Res Public Health 2021 Mar 12;18(6) doi: 10.3390/ijerph18062888. PMID: 33808951Free PMC Article
Steroid-induced osteonecrosis of the femoral head reveals enhanced reactive oxygen species and hyperactive osteoclasts.
Chen K, Liu Y, He J, Pavlos N, Wang C, Kenny J, Yuan J, Zhang Q, Xu J, He W
Int J Biol Sci 2020;16(11):1888-1900. Epub 2020 Apr 6 doi: 10.7150/ijbs.40917. PMID: 32398957Free PMC Article
Role of coagulopathy in glucocorticoid-induced osteonecrosis of the femoral head.
Zhang Q, L V J, Jin L
J Int Med Res 2018 Jun;46(6):2141-2148. Epub 2017 May 1 doi: 10.1177/0300060517700299. PMID: 28459353Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Osteonecrosis of the femoral head.
Babis GC, Sakellariou V, Parvizi J, Soucacos P
Orthopedics 2011 Jan;34(1):39. doi: 10.3928/01477447-20101123-19. PMID: 21210589

Prognosis

Biomarkers and pharmaceutical strategies in steroid-induced osteonecrosis of the femoral head: a literature review.
Qi X, Zeng Y
J Int Med Res 2015 Feb;43(1):3-8. Epub 2014 Dec 10 doi: 10.1177/0300060514554724. PMID: 25505050
Avascular necrosis of the femoral head following trochanteric fractures in adults: a systematic review.
Barquet A, Mayora G, Guimaraes JM, Suárez R, Giannoudis PV
Injury 2014 Dec;45(12):1848-58. doi: 10.1016/j.injury.2014.10.054. PMID: 25467713
Current management options for osteonecrosis of the femoral head: part 1, diagnosis and nonoperative management.
Amanatullah DF, Strauss EJ, Di Cesare PE
Am J Orthop (Belle Mead NJ) 2011 Sep;40(9):E186-92. PMID: 22022684
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905
Osteonecrosis of the femoral head: etiology, imaging and treatment.
Malizos KN, Karantanas AH, Varitimidis SE, Dailiana ZH, Bargiotas K, Maris T
Eur J Radiol 2007 Jul;63(1):16-28. Epub 2007 Jun 6 doi: 10.1016/j.ejrad.2007.03.019. PMID: 17555906

Clinical prediction guides

Osteotomies for avascular necrosis of the femoral head.
Quaranta M, Miranda L, Oliva F, Aletto C, Maffulli N
Br Med Bull 2021 Mar 25;137(1):98-111. doi: 10.1093/bmb/ldaa044. PMID: 33454780
The use of anticoagulants for prevention and treatment of osteonecrosis of the femoral head: A systematic review.
Guo P, Gao F, Wang Y, Zhang Z, Sun W, Jiang B, Wang B, Li Z
Medicine (Baltimore) 2017 Apr;96(16):e6646. doi: 10.1097/MD.0000000000006646. PMID: 28422866Free PMC Article
Italian experience on use of E.S.W. therapy for avascular necrosis of femoral head.
Russo S, Sadile F, Esposito R, Mosillo G, Aitanti E, Busco G, Wang CJ
Int J Surg 2015 Dec;24(Pt B):188-90. Epub 2015 Nov 27 doi: 10.1016/j.ijsu.2015.11.038. PMID: 26644278
Biomarkers and pharmaceutical strategies in steroid-induced osteonecrosis of the femoral head: a literature review.
Qi X, Zeng Y
J Int Med Res 2015 Feb;43(1):3-8. Epub 2014 Dec 10 doi: 10.1177/0300060514554724. PMID: 25505050
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905

Recent systematic reviews

Regenerative therapies for femoral head necrosis in the past two decades: a systematic review and network meta-analysis.
Wang X, Hu L, Wei B, Wang J, Hou D, Deng X
Stem Cell Res Ther 2024 Jan 25;15(1):21. doi: 10.1186/s13287-024-03635-1. PMID: 38273397Free PMC Article
Femoral head avascular necrosis in COVID-19 survivors: a systematic review.
Hassan AAA, Khalifa AA
Rheumatol Int 2023 Sep;43(9):1583-1595. Epub 2023 Jun 20 doi: 10.1007/s00296-023-05373-8. PMID: 37338665Free PMC Article
Tenth European Consensus Conference on Hyperbaric Medicine: recommendations for accepted and non-accepted clinical indications and practice of hyperbaric oxygen treatment.
Mathieu D, Marroni A, Kot J
Diving Hyperb Med 2017 Mar;47(1):24-32. doi: 10.28920/dhm47.1.24-32. PMID: 28357821Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Diagnostic accuracy of clinical tests of the hip: a systematic review with meta-analysis.
Reiman MP, Goode AP, Hegedus EJ, Cook CE, Wright AA
Br J Sports Med 2013 Sep;47(14):893-902. Epub 2012 Jul 7 doi: 10.1136/bjsports-2012-091035. PMID: 22773321

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