Dyskeratosis Congenita Treatment Cost in India

Dyskeratosis congenita (DKC) is a progressive congenital bone marrow failure syndrome characterized by low levels of RBCs, WBCs, and platelets, as well as skin and nail changes. The Dyskeratosis congenita treatment in India can be done with hematopoietic bone marrow transplantation. The best doctor to see is a highly qualified oncologist specializing in diagnosing and treating DKC.

The cost of Dyskeratosis congenita treatment in India is quite low. According to reports, the 10-year survival rate following DKC diagnosis and treatment in India is around 25%. DKC symptoms include skin hyperpigmentation, nail dystrophy, and leukoplakia, which appear as white patches inside the mouth.

What is Dyskeratosis Congenita?

Dyskeratosis congenita is a disorder that impacts many different parts of the body. This disorder is distinguished by three characteristics: Nail dystrophy refers to poor growth or abnormally shaped fingernails and toes; changes in skin coloring (pigmentation), particularly on the neck and chest, in a pattern commonly described as “lacy”; and white patches inside the mouth (oral leukoplakia).

People with dyskeratosis congenita are more likely to develop a number of life-threatening conditions. They are particularly vulnerable to conditions that impair bone marrow function. These diseases impair the bone marrow’s ability to produce new blood cells. 

Aplastic anemia, also known as bone marrow failure, occurs when the bone marrow does not produce enough new blood cells in affected individuals. They are also more likely than the general population to develop the myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition can progress to leukemia, a type of blood cancer.

DC can also cause pulmonary fibrosis, a condition in which scar tissue accumulates in the lungs, reducing the flow of oxygen into the bloodstream.

Although congenital (present at birth), the signs and symptoms of DC may not appear until late childhood or early adolescence, and in some cases not until adulthood.

DC in its traditional form is rare, affecting about one person in a million, but the broader spectrum of telomere disease may affect 10 to 100 times as many people.

What are the Signs and Symptoms of Dyskeratosis Congenita in Children?

The first symptoms of dyskeratosis congenita generally appear in childhood. Almost any part of the body can be affected by the disease. It is most commonly seen in cells that reproduce quickly, such as skin, nails, and mucous membranes.

Your child could have:

• Nail problems: It frequently causes fingernails and toenails to grow abnormally and fall off. They may also have ridges or be shaped like a thin spoon.
• Skin changes: Skin color changes are unusual in this condition. It also produces a lace-like pattern on the chest and neck.
• Patches in the mouth: This is known as oral leukoplakia. Thick, white patches frequently appear inside the mouth.
• Hair changes: The condition frequently results in premature greying and hair loss.

What Causes Dyskeratosis Congenita in Children?

• The presence of shortened telomeres is the underlying cause of DC. Telomeres protect genetic information. Telomeres, similar to the plastic tip on the end of a shoelace, prevent chromosome ends from fraying and fusing together while allowing cells to divide.
• The telomeres shorten with each cell division, and when they become too short, the cell stops dividing. People with DC have a gene mutation that prevents them from maintaining telomeres. Their cells stop dividing too soon, resulting in organ failure and disease.
• Dyskeratosis congenita is usually inherited from a parent who carries the gene defect. It appears to exist from birth. However, symptoms may not manifest until later in life.
• Some people have the dyskeratosis congenita gene defect but never develop symptoms or complications. They could still pass the defect on to their children or grandchildren, who may experience symptoms.
• Others are born with the gene defect despite not having a parent with symptoms or the gene defect.

How is congenital dyskeratosis diagnosed?

Doctors frequently struggle to diagnose dyskeratosis congenita because people possess unique symptoms at different stages of their lives (DC). If a clinical evaluation and detailed family history indicate that the condition is suspected, your doctor may order some or all of the following tests:

• Blood counts: A complete blood count (CBC) can assist your doctor in determining the cause of low blood counts. DC patients typically have an abnormally low number of red blood cells, white blood cells, or platelets.
• Bone marrow exam: It will be performed to allow your doctor to look for marrow abnormalities, such as 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 blood cells’ DNA and compare the result to that of unaffected individuals of the same age.
• Additional tests: It includes genetic testing, which may be ordered to rule out other inherited conditions, such as myelodysplastic syndrome (MDS).

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