Symptoms of Alpha-1
liver disease in adults
In its early stages, Alpha-1 liver disease may not be symptomatic. Eventually the liver disease may become severe enough to cause some or all of the following symptoms. Therefore it is important that your doctor checks the liver blood tests.
Early, mild liver disease:
- No symptoms (usually)
- Loss of appetite
- Nausea, vomiting
- Weight loss
- Enlarged liver noticed by your doctor when examining your abdomen
As liver disease progresses to become more severe:
- Jaundice (yellow skin and/or yellowing of the whites of the eyes)
Rarely, severe liver disease and liver failure may cause:
- Fluid retention, with swollen ankles (edema) or a buildup of fluid in the abdomen (ascites)
- Poor blood clotting (easy bruising, frequent nose bleeds)
- Intestinal bleeding (vomiting of blood or black or red stools)
- Greater risk of infections
- Sleep disturbance
- Confusion or depression
- Breathlessness or fast breathing
There is no specific treatment for Alpha-1 Antitrypsin Deficiency (A1AD) associated liver disease. No treatments have yet been found that can stop Alpha-1 liver disease from developing or slow its progression once it is present. However, it is important to avoid things that may cause extra harm to the liver (such as alcohol, street drugs and certain prescribed medications). Eating a balanced, healthy diet that contains plenty of fruit and vegetables is essential to provide your liver with the antioxidants that it needs to protect against inflammation.
When liver disease becomes more severe, many of the complications of the liver disease require treatment, for example:
- Loss of appetite and weight loss can be helped by advice from a specialist dietitian.
- Itch can be treated with medications including ursodeoxycholic acid, cholestyramine and rifampin.
- Limiting the amount of salt in your diet and taking diuretic medications can treat fluid retention.
- Intestinal bleeding is a rare medical emergency that requires immediate admission to hospital for treatment with medications, blood transfusion and usually endoscopy.
Liver transplantation is sometimes a necessary life-saving measure. Fortunately, studies indicate that only a small percentage of people with Alpha-1 liver disease require liver transplantation. Clinical centres have observed that a number of patients with severe liver disease are able to live a relatively normal life for long periods of time without further deterioration in their liver function. When a liver transplant is performed, the donor liver makes normal alpha-1 antitrypsin and releases it into the blood, thus, in a practical sense, the affected individual no longer has Alpha-1.
Liver transplantation using a piece of liver from a live donor is a successful technique that has helped many people with severe liver disease of various causes. However, because relatives of people with A1AD may also have one or two abnormal Alpha-1 genes, careful selection of the donor is required to avoid transplantation of a liver which may then develop further problems.
A great deal of research is currently underway to evaluate ways of protecting the liver from injury or even to “trick” the liver into releasing the alpha-1 antitrypsin protein trapped within the liver cells. If successful, such a treatment could lead to a cure for Alpha-1.