Familial avascular necrosis of the femoral head

What are the causes of familial avascular necrosis of the femoral head?

Although rare, there are some families that have an inherited form of ANFH. Genetic changes in the type II collagen gene ( COL2A1 ) cause ANFH in a few families. This gene is responsible for making a protein that helps build cartilage. One other family was found to have a genetic change in the transient receptor potential vanilloid 4 gene ( TRPV4 ). This gene makes a protein that helps regulate blood flow.

In the non-inherited types of avascular necrosis of the femoral head, the cause is not clear. These are some of the factors have been associated with an increased chance to get ANFH:

• Steroid use
• Alcohol use
• Chemotherapy
• Auto-immune disease
• Medications that suppress the immune system
• Sickle cell anemia and other disorders of the blood
• Disorders that affect how the blood clots
• Too much fat in the bloodstream (hyperlipidemia)

ANFH can also develop in a person who has had a hip injury (like a fracture or dislocation) or hip surgery.

Last updated on 05-01-20

How is familial avascular necrosis of the femoral head diagnosed?

Avascular necrosis of the femoral head is diagnosed based the symptoms, and by using imaging, such as X-rays or MRI. A physical examination can be helpful as well. People with the familial (inherited) form of ANFH may have other family members with the same condition.

Last updated on 05-01-20

How is familial avascular necrosis of the femoral head inherited?

Most cases of avascular necrosis of the femoral head (ANFH) are not inherited in families. In a few rare families, ANFH is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. In inherited ANFH, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from either parent. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the mutation and the condition. Offspring who inherit the mutation will have the condition, although they could be more or less severely affected than their parent.

Last updated on 05-01-20

What is the long-term outlook for people with familial avascular necrosis of the femoral head?

The long-term outlook for avascular necrosis of the femoral head depends on the stage that it is diagnosed. Most people with this condition will end up having arthritis in the joint as well as hip collapse. Children diagnosed with this condition have a better long term outlook than adults.

Last updated on 05-01-20

How might familial avascular necrosis of the femoral head be treated?

Treatment for avascular necrosis of the femoral head may depend on how early it is diagnosed and the presence of an underlying condition. It is not clear if medications are helpful. Surgery may help in some cases. In the more advanced stages, total hip replacement is an option.

Last updated on 05-01-20

Name: Genetic Testing Registry GTR Url: https://www.ncbi.nlm.nih.gov/gtr/
Wang T, Azeddine B, Mah W, Harvey EJ, Rosenblatt D, Seguin C.. Osteonecrosis of the femoral head: genetic basis. Int’l Orthoped. Oct 17, 2018; 1-12. Reference Link Choi HR, Steinberg ME, Y Cheng E. Osteonecrosis of the femoral head: diagnosis and classification systems Curr Rev Musculoskelet Med. 2015; 8(3). 210-20. Reference Link Chughtai M, Piuzzi NS, Khlopas A, Jones LC, Goodman SB, Mont MA. An evidence-based guide to the treatment of osteonecrosis of the femoral head Bone Joint J. Oct 2017; 99-B(10). 1267-1279. Reference Link Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J et al. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head J Med Genet. 2016; 53. 705-709. Reference Link Avascular necrosis of the femoral head, primary 1; ANFH1 Online Mendelian Inheritance in Man (OMIM). Updated Mar 2, 2017; Reference Link Avascular necrosis of the femoral head, primary 2; ANFH2 Online Mendelian Inheritance in Man (OMIM). Mar 2, 2017; Reference Link Le Merrer M. Familial avascular necrosis of femoral head Orphanet. May 2008; Reference Link Lee YJ, Cui Q, Koo KH. Is There a Role of Pharmacological Treatments in the Prevention or Treatment of Osteonecrosis of the Femoral Head?: A Systematic Review J Bone Metab. Feb 2019; 26(1). 13-18. Reference Link

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