Autosomal recessive hypophosphatemic bone disease

Autosomal recessive hypophosphatemic bone disease is a genetic condition caused by a change in the dentin matrix protein 1 (DMP1) or ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene.

Genes are what control the growth, development, and function of the body. A change (mutation) can cause the gene to not work properly. Each person has two copies of every gene, one from the mom and one from the dad. This disease is passed down from parent to child in an autosomal recessive manner, which means one mutation from each parent is inherited by a child in order to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene. Carriers show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.

Autosomal recessive hypophosphatemic bone disease is a disorder that means your bones are soft or weak. This is often associated with a vitamin D deficiency. This can occur at any age, but typically begins in early childhood. Symptoms include delayed growth, short stature (height), pain in the pelvis, legs, or spine, and weakness. The softening of the bones can also lead to bowed legs, thickened wrists and ankles, and breastbone projection. Adults especially have bone pain, tiredness, muscle weakness, and commonly have bone fractures.

Treatment for this disease could include vitamin D and phosphate supplements to help bone strength. This must be monitored to ensure there is not too much calcium in the body. If you or a family member has been diagnosed with autosomal recessive hypophosphatemic bone disease, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention. Support groups are also good sources for support and information.