Is fibrous dysplasia hereditary?
Recently diagnosed with fibrous dysplasia, I have learned that this condition may cause pain, deformities, and may also affect bone strength. Right now, I feel lost and don't know what the future holds. I want to know whether fibrous dysplasia can be passed on to my children?
Doctor's answer (1)
Fibrous dysplasia of bone, also known as fibro-osseous dysplasia, is characterized by the replacement of normal bone tissue with fibrous bone-like tissue and is generally non-hereditary.
Non-hereditary causes:
1. Etiology: This disease is primarily caused by somatic cell mutations in the GNAS1 gene (guanine nucleotide-binding protein gene), leading to abnormal proliferation of fibrous tissue within the bones. The gene locus is at 20q13.2, and this type of gene mutation is not hereditary.
2. Fibrous dysplasia is a benign, self-limiting, slow-developing bone structural disorder that results in localized deformities and swelling. The causes of this disease may be related to multiple factors such as infection, trauma, endocrine dysfunction, and local ischemia, rather than being caused by heredity.
However, some cases do show a genetic predisposition, mainly inherited in an autosomal dominant pattern. Not all patients will pass this disease on to their offspring; the genetic risk depends on the specific type of gene mutation and family history. Clinically, if one parent has fibrous dysplasia, the risk of their children developing the condition is increased, but it is not absolute.
