Albright hereditary osteodystrophy is a congenital skeletal disorder. This rare condition occurs as a result of a mutation that causes the body to resist parathyroid hormone, and is also known as "pseudohypoparathyroidism type 1a." It is inherited dominantly, and can be diagnosed with a clinical evaluation, blood testing, and family history. Treatment options can depend on how it presents in a patient, and what kinds of services are available to the family.
People with this condition develop a short stature, and the long bones in the feet and hands, particularly the outer bones, can be shortened as well. This is known as brachydactyly. Obesity can be common, and many patients have distinctive rounded faces. Albright hereditary osteodystrophy can also cause the development of ossifications in the soft tissue, which may cause pain and discomfort.
Levels of parathyroid hormone tend to be elevated, but the body behaves as though it isn’t getting enough of the hormone. Other compounds, like calcium, can be lower in these patients, which can cause continuing complications for life unless the patient receives supplements. Adding calcium to the diet can help keep the skeleton strong and functional. Vitamin D supplementation may also be recommended for the patient.
In some cases, Albright hereditary osteodystrophy can cause intellectual disability. Patients may have difficulty with language acquisition and other skills, and complex critical thinking can be challenging. This particular manifestation of the condition is not universal, but can be a cause for concern, and a doctor may recommend evaluations to identify any signs of cognitive or intellectual impairment as early as possible. Early identification can make it easier to develop appropriate interventions, such as tutoring and mentoring to help the patient in school.
Treatments for Albright hereditary osteodystrophy can include supplements to support skeletal health, physical therapy to maintain strength and dexterity, and occupational therapy. Patients with intellectual disabilities may require accommodations at school or in the workplace. The level of assistance needed depends on the severity of the condition. Some may be able to mainstream with other students and could live independently as they mature, while others may need aides and support staff to help them perform tasks of daily living like personal hygiene.
This condition is linked with a random mutation in the mother’s chromosomes. Parents with concerns about future children can meet with a genetic counselor to discuss the condition and their options. Some genetic testing can provide insight into the specifics of the Albright hereditary osteodystrophy mutation.