Newborn Diagnosis

Most babies with Generalized Arterial Calcification of Infancy are diagnosed after they are born. With the rarity of GACI, many health professionals may not be familiar with the disease.  Information gathered from medical journal articles about GACI can often be disheartening. Yet in recent years many babies with GACI have survived this disorder.

Clinical signs for GACI can include:

  • enlarged heart (cardiomegaly)
  • echogenicity of the arteries and/or heart on imaging
  • high blood pressure (hypertension)
  • heart disease
  • reduced or absent pulses
  • respiratory distress
  • blood vessel narrowing
  • joint calcifications
  • accumulation of fluid (edema) in the extremities
  • kidney failure
  • gastrointestinal complications

The critical period for babies with GACI is during the first 6 months after birth.  This is due to calcium continuing to build up in the artery walls. If blood flow becomes restricted it can become life-threatening.

Treatment

Currently, there is no curative treatment for GACI.  However, in recent years, treatment with bisphosphonates has led to increased survival rates.  Bisphosphonates are a class of drugs regularly used to treat osteoporosis.  The medicine’s purpose is to reduce calcium buildup and mineralization.  For specific treatments refer to Treatment Options for Arterial Calcification.

Medical Monitoring

Due to the seriousness of this disorder infants with GACI are closely observed and usually are hospitalized in the Neonatal Intensive Care Unit (NICU).

Monitoring often includes:

  • echocardiograms
  • electrocardiogram (EKG/ECG’s)
  • computed tomography (CT scans)
  • regular blood pressure measurements
  • checking pulses in all extremities
  • frequent lab and urine work
  • hearing tests

A team of health professionals caring for infants with GACI may involve endocrinology, cardiology, nephrology, gastroenterology, orthopedics, physical therapy, genetics, and audiology.

Being a parent of a baby diagnosed with GACI can be overwhelming and challenging. During this difficult time having strong support is important. It can include family, friends, hospital social worker, and mental health providers.

Genetic Testing

To confirm a GACI diagnosis the baby (and parents) may be genetically tested.

Genetic counselors are trained to help families understand genetic disorders and provide information and support.

There are 2 forms of GACI that can be indicated in the genetic test result:

Type 1 is caused by mutations in the ENPP1 gene. It is called ENPP1 Deficiency.  Patients with ENPP1 Deficiency are at risk of developing Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2).  ARHR2 causes weakening in the bones. With proper treatment, the bones can be strengthened and side effects minimized.  For more ARHR2 information refer to Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2).

Type 2 is caused by mutations in the ABCC6 gene. It is called ABCC6 Deficiency. As children affected by GACI due to ABCC6 Deficiency get older, they can develop Pseudoxanthoma Elasticum (PXE). This condition affects the elastic tissue of the skin, the eye, cardiovascular and gastrointestinal systems.  For more information on PXE please refer to Complications of GACI.

If genetic testing indicated GACI, it is recommended to have siblings tested.

It is essential to be genetically tested as early as possible for those who could benefit from treatment. Interestingly, siblings with the same genetic deficiencies can have different GACI clinical presentations.

Resources

There have been advancements in GACI research during the past several years. This includes research by 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 info@gaciglobal.org.