Heart and Blood Conditions

Dyskeratosis Congenita Treatment

In treating dyskeratosis congenita, doctors often have two goals:

  • Helping to manage the health problems that the condition causes
  • Curing bone marrow failure or cancers caused by dyskeratosis congenita

Dyskeratosis Congenita Treatment Options

If your child has DC, it is very important to monitor their condition carefully. Not only can it make your child feel better, it can help doctors find problems early when the chances of successful treatment are best. Your child may need some regular testing and exams, such as:

  • Blood tests and bone marrow tests for conditions like bone marrow failure or leukemia
  • Dental and oral exams to check for white patches (leukoplakia)
  • Breathing tests (pulmonary function tests) to measure how well their lungs work
  • Assessments of their diet and some hormone measurements to help prevent weak bones (low bone density)

Bone marrow failure is one of the most serious problems caused by dyskeratosis congenita. Over the short term, doctors may treat bone marrow failure with medicines that help build up levels of blood cells. These medicines include:

  • Oxymethalone, an anabolic steroid
  • Filgrastim (Neupogen), a granulocyte colony-stimulating factor, or a medicine that helps the bone marrow to make more cells

So far, the only cure for bone marrow failure is hematopoietic cell transplantation. Transplants can cure bone marrow failure, but they don't cure other problems caused by dyskeratosis congenita, like problems with the digestive system and lungs.

Hematopoietic Cell Transplant, or Stem Cell Transplant

A hematopoietic cell transplant (also called a bone marrow transplant or stem cell transplant) may cure bone marrow failure. This treatment works best in children and young adults with a sibling who is a match and can donate bone marrow for the transplant.

We work closely with our transplant colleagues at the Fred Hutchinson Cancer Research Center to provide care for children who need a bone marrow or stem cell transplant. We do transplants at the Seattle Children's Hospital main location.

Children with dyskeratosis congenita are very sensitive to the side effects of treatments that people must undergo before hematopoietic cell transplants. Our team uses special transplant treatments (called reduced-intensity conditioning regimens). We have developed these treatments especially for children with dyskeratosis congenita. In addition, our team has a lot of experience over many years in using transplants to help young patients who are sensitive to the approach of standard transplant treatment.

Learn more about pediatric bone marrow and stem cell transplants that are offered through the Pediatric Blood and Marrow Transplant Program.