Treatment Options for Arterial Calcification
Treatment for GACI
Generalized Arterial Calcification of Infancy (GACI) is commonly treated with medications that target cells involved in calcium buildup and mineralization. In recent years many babies with GACI have survived this disorder due to medical treatment.
The severity and clinical presentation of GACI vary among individuals, including siblings. It is important to discuss the best treatment plan for the patient with the medical team.
For prenatal treatment refer to our prenatal diagnosis page.
In the body, calcium is carried in the bloodstream and is in every cell. There is a molecule in the body that regulates mineralization. It is called pyrophosphate (PPi).
Mineral crystals are normally formed by calcium binding to phosphorus. PPi competes with phosphorus to prevent this mineralization process. If the PPi level is low or deficient, it can cause calcium to bind to phosphorus without opposition. This can lead to the accumulation of mineral crystals anywhere in the body.
With GACI, the PPi levels are below normal causing over-mineralization. This is noticed as calcifications on imaging since the density of calcium makes it easy to identify. This mineral buildup can cause harmful effects to arteries, joints, bones, and organs in individuals with GACI.
Bisphosphonates are a class of medicine regularly used to treat osteoporosis. Their objective is to reduce calcium buildup and mineralization. The use of bisphosphonates has appeared to significantly increase survival rates in infants with GACI.
Bisphosphonates are administered either intravenously (IV) or orally depending on the bisphosphonate prescribed. The dosage amount and length of treatment may vary depending upon the patient’s medical team.
Bisphosphonates commonly used for GACI:
Sodium Thiosulfate (STS) is a calcium-chelating agent. It is typically used by patients who have excess calcium in their arteries due to kidney disease. In recent years, STS has also been used to treat patients with GACI.
STS increases the solubility of calcium in the arteries to allow it to be removed from the body. STS is typically administered intravenously through a central line in the chest. The dosage amount and length of time for STS treatment are determined by the patient’s medical team.
Little information is available about heart transplants in patients with GACI. There is some clinical evidence that heart transplants can be successful, without recurrence of calcifications.
Heart transplant for individuals with GACI has occurred in at least 4 known cases in the US, Vatican City, and Spain. The youngest patient was 4 months old at the time of the heart transplant in 2017. The most recent heart transplant took place in 2022 in Spain.
Presently, there is no curative treatment available for GACI. However, there have been significant advancements in GACI research during the past several years.
One significant advancement is the involvement of the National Institute of Health (NIH) in Bethesda, Maryland. The NIH is the largest biomedical research agency in the world.
In 2013, the NIH began GACI research and clinical studies. Since that time the NIH has seen patients with GACI of all ages from around the world. They remain a committed resource for medical professionals and families affected by GACI.
To connect with the Medical Geneticist at the NIH or with a family affected by GACI please contact GACI Global at firstname.lastname@example.org.