LiverCirrhosis of the liver is more common in those affected by dyskeratosis congenita and people who carry DC-associated genes.

The liver filters nutrients and chemicals absorbed from the bowel, often processing or detoxifying them prior to circulation to other parts of the body. For this reason, the liver is subject to continuous stress and potential damage, but has huge capacity to repair and regenerate itself. As the liver cells age, their capacity for recovery is reduced, particularly in patients with DC or DC-associated genes, whose short telomeres cause accelerated aging. Aged liver cells may result in repair with fibrosis (scarring), which if severe, leads to cirrhosis – a condition where scar tissue obstructs and blocks the normal functioning of the liver.

The risk of cirrhosis can be reduced by avoiding alcohol and by avoiding medications* which may cause liver damage, such as long term methotrexate. Vaccinations to prevent hepatitis (infection/inflammation of the liver) should be considered: hepatitis A vaccination for travellers and hepatitis B vaccination for those whose profession or lifestyle entails of risk of exposure to human body fluids (health care workers, law enforcement professionals).

Once established, there are no proven treatments to reverse cirrhosis, although antifibrotic drugs used for lung diseases would be a theoretical option. However, expert care and treatment to prevent complications of cirrhosis is very important.

Small abnormal blood vessels called ‘arteriovenous (AV) malformations’ can also be problematic. They can cause a condition called hepatopulmonary syndrome, which can lead to shortness of breath, low blood oxygen levels, and portal or pulmonary hypertension, where the blood pressure in the arteries leading to the liver or lungs is increased. Portal hypertension can lead to liver and spleen enlargement and oesophageal varices (varicose veins in the gullet or stomach), which can cause bleeding. Varices are treated by injection/ banding via endoscopy (tube inserted through the mouth into the stomach), or by using medication such as beta blockers to reduce the likelihood of bleeding.

* Drugs used to treat Dyskeratosis Congenita, such as oxymetholone or danazol have a risk of exacerbating cirrhosis, However this is less than the potential benefit of the treatment in most cases. Many other medications have a lower risk of liver toxicity, and your physician will advise on risk/benefit to you of taking these.

You can find DC Action’s liver ‘Cheat Sheet’ here: Liver Aug 2023

You may find it useful to take this to your GP or specialist to help explain your symptoms.

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