The international DC medical community, along with patient representatives from DC Outreach and DC Action have published an overview of newly recognised complications of DC, including stomach/bowel bleeding, bleeding at the back of the eye (retina), liver and lung complications of abnormal connections between blood vessels. Understanding underlying problems in this way is the first step to finding the best treatment.
Blood vessel abnormalities can have implications for different parts of the body in DC pateints. Our medical advisor, Dr Hilary Longhurst, summarises the potential issues below – you can also find these under the relevant headings in the ‘Education’ section of this website.
Small abnormal blood vessels called ‘arteriovenous (AV) malformations’ can be problematic and cause bleeding which can be difficult to control. Radiofrequency ablation by endoscopy (a tube inserted through the mouth to look at the stomach), oestrogens and VEGF can be helpful. Oesophageal varices (varicose veins in the gullet or stomach) can also occur and are treated by injection/ banding via endoscopy, or by using medication such as beta blockers to reduce the likelihood of bleeding.
AV malformations 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. As mentioned above, varices are treated by injection/ banding via endoscopy, or by using medication such as beta blockers to reduce the likelihood of bleeding.
AV malformations can be problematic and cause bleeding or shortness of breath and low blood oxygen. Early treatment with oestrogens, danazol or VEGF may be helpful. AV malformations may also contribute to pulmonary fibrosis. If liver transplant is required, AV malformations in the lungs often improve afterwards.
Small abnormal blood vessels called telangectasia (also known as AV malformations) can occur on the back of the eye (retina). Retinal telangiectasia can cause leakage of fluid out of the blood vessels onto the back of the eye (exudates) or bleeding, which can affect vision. Patients with Revesz syndrome or Coats plus are particularly liable to this complication. Regular monitoring is advised, as laser treatment of abnormal vessels can prevent these problems. VEGF injections, danazol or oestrogens may also be of benefit.
You can read the full paper here: