Normally, bone marrow produces all of the blood cells your child’s body needs, but sometimes genetic defects can disrupt the marrow’s ability to make these vital cells. Dyskeratosis congenita (DC) is a rare genetic disorder that affects multiple parts of the body, including the bone marrow’s ability to make blood cells. The bone marrow produces all blood cells: red blood cells, white blood cells and platelets. Red blood cells contain the protein hemoglobin that carries oxygen from the lungs to tissues. White blood cells fight infection. Platelets are important for blood to clot.
Dyskeratosis Congenita Treatment
Children and young adults with dyskeratosis congenita are treated through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Stem cell (bone marrow) transplant is currently the only cure for the blood defects of dyskeratosis congenita.
What causes dyskeratosis congenita?
Dyskeratosis congenita is part of a larger group of diseases called telomere diseases, which are due to mutations in the genes encoding molecules that regulate telomere length. Telomeres are long repeats at the end of the DNA in our chromosomes and they shorten as cells in our bodies divide and regenerate themselves. Mutations in the genes that cause DC result in failure to maintain telomere length, and therefore cells cannot replenish themselves, resulting in failure of various organs. Mutations in telomere biology genes are found in approximately 60% of patients, while the remaining patients have mutations in unknown genes.
- Dyskeratosis congenita can be inherited from parents or occur spontaneously in an individual child.
- Dyskeratosis congenita occurs more frequently in males than females, and has been diagnosed in nearly all ethnic groups. Children and adults may be diagnosed with DC at any age.
- Dyskeratosis congenita is rare, estimated to affect approximately one person per million.
What are the symptoms of dyskeratosis congenita?
Dyskeratosis congenita has a large range of associated symptoms. The classic features of DC include:
- Defects in fingernails and toenails, including ridges, breaking, and loss of nails
- skin pigment changes, often patchy and on the neck and upper chest
- whitish plaques in the mouth
It is important to note that the absence of these features does not rule out telomere disease.
Some patients also will experience these dyskeratosis congenita symptoms:
- bone marrow failure
- lung disease
- skin and blood cancers
- liver disease
There are several other symptoms that can be associated with dyskeratosis congenita, which can vary from patient to patient.
How is dyskeratosis congenita diagnosed?
To diagnose dyskeratosis congenita, your physician will obtain a detailed patient and family history, perform a careful physical examination, and may order some or all of the following tests:
- blood counts – A complete blood count (CBC) with reticulocytes can help your doctor to understand the cause of low blood counts. In DC, this test shows an abnormally low number of red blood cells, white cells and/or platelets. A low reticulocyte count indicates that new red cells are not being made by the bone marrow and released into the blood.
- bone marrow exam – Using a needle, samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn under sedations or anesthesia. This allows your doctor to look for marrow abnormalities. In DC, your doctor will look for a lack of immature cells that give rise to the blood cells, and also for evidence of “pre-cancer” or cancer.
- telomere length test – your physician can send a blood test to a specialized lab that can measure the length of telomeres in the DNA of your blood cells, and compare that result to unaffected individuals of the same age. Dyskeratosis congenita is suspected if your blood cell telomere length is severely short compared to that of a person of the same age.
- other tests – Additional blood tests and genetic testing may be ordered to rule out other inherited types of anemia and other disorders, such as myelodysplastic syndrome (MDS).
After we complete the necessary evaluations and tests, our experts meet to review and discuss what they have learned about your condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.
What are dyskeratosis congenita treatment options?
In addition to blood transfusions and other supportive care, treatment options are available for bone marrow failure in DC patients.
- Androgen therapy: Androgens are hormones that can improve the blood counts in approximately 60% of individuals with DC. They are taken daily, by mouth in liquid or pill form. Side effects of androgens may include fluid retention and high blood pressure, nausea, vomiting, acne, oily skin, enlarged penis/clitoris, hoarseness/voice deepening, hair growth or loss, behavioral changes, hot flashes, breast enlargement or tenderness, loss of menstruation, and liver toxicity.
- Stem cell transplantation (also called bone marrow transplant) can cure the blood problems in patients with dyskeratosis congenita. Your child’s physician can tell you whether a stem cell transplant might be appropriate for your child. However, stem cell transplant does not cure the other problems in dyskeratosis congenita, and they are managed by careful surveillance and intervention by your physician team.
What is the latest research on dyskeratosis congenita?
What is the long-term outlook for patients with dyskeratosis congenita?
Children with dyskeratosis congenita are at increased risk of various illnesses compared with other patients with bone marrow failure, and require individualized, multi-disciplinary care. Our physicians will:
- provide expert consultation to establish or confirm the diagnosis of dyskeratosis congenita or telomere disease
- coordinate a multi-disciplinary evaluation with other subspecialists that is tailored to your needs
- inform you on the latest biology and medical knowledge about dyskeratosis congenita and telomere diseases
- provide you with long-term, comprehensive care for bone marrow failure and other complications of dyskeratosis congenita and telomere diseases
- connect you with patient and family support services
