Living with GACI/ARHR2 as an Adult

As an adult living with GACI/ARHR2, regular check-ups with a number of clinicians is important.

During adulthood, a cardiologist is seen to assess if there is any new narrowing or thickening of vessels. This is usually done via EKG/ECGs, Ultrasounds and MRI scans to ensure as little exposure to radiation as possible.

Adults with ARHR2 should be followed regularly by an endocrinologist.  Regular blood tests should be performed to assess levels of phosphate, vitamin D, and FGF23.  Phosphate supplementation and symptoms are managed accordingly.  Varus deformities of the legs and deformities of other joints may become painful. The development of calcific enthesopathies where calcium deposits are found in tendons is common and widespread in ARHR2. It can be painful, but rest and pain relief can help manage symptoms along with physiotherapy to strengthen areas of muscle weakness. The use of long-term pain relief might be considered due to lower back and joint pain associated with rickets. A rheumatologist can help manage any joint problems as a result of ARHR2. Regular dental appointments and x-rays are also important to monitor any bone loss of the jaw associated with ARHR2.

Some individuals with GACI may also have a congenitally fused cervical spine causing limited mobility in this area. In this instance, fiber-optic intubation might be required if conventional airway management is difficult (for example during surgery).

GACI can lead to an unusual appearance of the retina called peau d’orange. Yearly check-ups with an ophthalmologist can help to monitor this and ensure angioid streaks don’t develop, which causes damage to the retina and subsequently eyesight. An Amsler chart can be used to test vision weekly at home, ensuring no visual disturbances have occurred.

There are several adult patients with GACI/ARHR2 who have had children of their own. A geneticist can be sought to help discuss any concerns regarding this. During pregnancy, close attention must be paid to the mother’s blood results to determine levels of vitamin D that can be depleted during pregnancy. Associated joint pain with increased pressure on weight-bearing joints is to be expected.

Pilates type stretches and exercises such as swimming can help with muscle weakness in those with ARHR2. Pain and fatigue are commonly felt in ARHR2 however, these are not usually severe enough to impact dramatically on day-to-day work/living.