Dyskeratosis Congenita | Diagnosis & Treatment

How is dyskeratosis congenita diagnosed?

Because people have different symptoms at different points in their lives, it is often difficult for doctors to diagnose dyskeratosis congenita. If the condition is suspected following a clinical evaluation and detailed family history, your physician may order some or all of the following tests:

  • Blood counts: A complete blood count (CBC) can help your doctor to understand the cause of low blood counts. Individuals with dyskeratosis congenita typically have an abnormally low number of red blood cells, white cells or platelets.
  • Bone marrow exam: A bone marrow biopsy will be performed to allow your doctor to look for marrow abnormalities, such evidence of pre-cancerous or cancerous cells.
  • Telomere length test: A blood test sent to a specialized lab can measure the length of telomeres in the DNA of blood cells and compare that result to unaffected individuals of the same age.
  • Other tests: Additional tests, as well as genetic testing may be ordered to rule out other inherited conditions, such as myelodysplastic syndrome (MDS).

What are the treatment options for dyskeratosis congenita?

The treatment plan for dyskeratosis congenita is dependent upon the individual and the progression of their illness. Milder forms of dyskeratosis congenita may not require treatment for many years. For those who have a more severe form of the condition, there are a couple of treatment options available.

Androgen therapy

Steroid drugs, known as androgens, can improve blood counts in individuals with dyskeratosis congenita. The benefits of androgen therapy are only temporary, and the length of time this treatment improves bone marrow function varies.

Stem cell transplantation

If a compatible donor can be found, a stem cell transplant, also known as a bone marrow transplant, potentially can cure the blood abnormalities associated with dyskeratosis congenita. Stem cell transplant does not, however, improve tissues affected by the condition.