Dyskeratosis congenita (DKC) is a genetic disorder. It can cause low levels of red blood cells, white blood cells and platelets as well as other abnormalities, including skin and nail changes and a predisposition to cancer.
At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care for people with DKC.
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What is dyskeratosis congenita?
DKC belongs to a group of disorders called inherited bone marrow failure syndromes. In these disorders, your bone marrow cannot make enough healthy blood cells. DKC can affect many other parts of your body too. It is caused by a problem with your body’s ability to maintain telomeres, structures at the ends of your chromosomes.
Symptoms and diagnosis of dyskeratosis congenita
DKC can be difficult to diagnose because people with the disorder experience different symptoms that show up at different times in their lives. Most people with DKC have cytopenias, low levels of blood cells, because their bone marrows doesn’t produce enough blood cells. This can worsen over time and lead to bone marrow failure.
You may also experience premature hair graying, hair loss, tooth abnormalities and problems with your lungs (like pulmonary fibrosis) or digestive system. Some people may have learning difficulties or mild to moderate developmental delay.
Other signs and symptoms may include:
- A lacy-looking rash on your face, neck and chest
- Ridged, fissured and weakened nails
- White patches inside your mouth and upper throat (leukoplakia)
People with DKC are at increased risk for cancers of the tongue, mouth, throat, stomach, colon, rectum, and blood and bone marrow.
SCCA has experts in recognizing this disorder and offers a full array of services to diagnose it. Your doctor will ask about your medical history and perform a physical exam looking for signs of DKC. Next, the doctor may order some of the following:
- Blood tests — A complete blood count (CBC) is done to check your level of each kind of blood cell.
- Bone marrow aspiration and biopsy — Using a hollow needle, tiny samples of bone marrow are taken under local anesthesia. This allows your doctor to study your blood cell development.
- Other tests — You might have genetic testing to find mutations in DKC genes and to rule out mutations in genes linked with other inherited bone marrow failure syndromes. Your doctor may recommend other blood tests to measure the length of your telomeres. Telomeres are unusually short in many people with DKC.
Dyskeratosis congenita treatment
SCCA’s team of doctors provides a comprehensive range of treatment options for DKC and has expertise in the medical monitoring that people with DKC need.
Care is aimed at managing health problems associated with DKC; monitoring for complications, such as lung problems or cancer; and caring for bone marrow failure or cancer, if it occurs.
Doctors may treat bone marrow failure with medications that help increase your levels of blood cells. These include:
- Oxymethalone (Anadrol) — an anabolic steroid used to improve your red blood cell count
- Erythropoietin (Epogen, Eprex, Procrit) — a medicine that helps your bone marrow make more red blood cells
- Filgrastim (Neupogen) — also called granulocyte colony-stimulating factor, or G-CSF, a medicine that helps your bone marrow make more white blood cells
Bone marrow transplant
So far, the only cure for bone marrow failure is blood or bone marrow transplantation (also called stem cell or hematopoietic cell transplantation). Transplants can cure bone marrow failure, but they do not cure other problems caused by DKC, like problems with the digestive system and lungs.
The Fred Hutch Bone Marrow Transplant Program at SCCA has performed more bone marrow transplants than any other institution in the world. For people with DKC, our team uses reduced-intensity conditioning regimens that we developed specifically to reduce transplant complications.
Because DKC can impact many organ systems and affect your lifestyle, care at SCCA involves a multidisciplinary team. Based on your health needs, your team may include hematologists, internists, psychiatrists, psychologists, surgeons, cardiologists, endocrinologists, nurses, social workers and physical and occupational therapists.