Avascular necrosis of femoral head

Definition:

Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:H01526] is a particular type of femoral head necrosis occurring in children. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.

References:

[1]. Wayne Mah, et al. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. J Med Genet. 2016 Oct;53(10):705-9. [Content Brief]

[2]. Wei-Ming Chen, et al. Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. Am J Hum Genet. 2004 Aug;75(2):310-7. [Content Brief]

[3]. Xiao-Nan Liang, et al. Association between PAI-1 4G/5G Polymorphisms and osteonecrosis of femoral head: a meta-analysis. Thromb Res. 2013 Aug;132(2):158-63. [Content Brief]

[4]. Z C Zhou, et al. VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head. Genet Mol Res. 2015 Oct 29;14(4):13688-98. [Content Brief]

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