Symptoms of Alpha-1
liver disease in children
As with adults, early mild Alpha-1 liver disease in children will cause no symptoms and the liver therefore needs to be checked by blood tests. A common reason for Alpha-1 to be diagnosed in childhood is the presence of prolonged jaundice in a newborn baby. This jaundice will commonly resolve in infants with A1AD who may then continue through childhood with no symptoms and evidence of only mild liver disease on blood tests or ultrasound. It is rare for Alpha-1 liver disease in childhood to become more severe and to lead to cirrhosis, liver failure and the need for liver transplantation.
Some or all of the following symptoms may be present. All symptoms should be reported to the child’s doctor.
Early, mild liver disease:
- No symptoms (usually)
- Jaundice at birth (yellow skin and/or yellowing of the whites of the eyes)
- Pale, almost white stools
- Loss of appetite, poor feeding, problems nursing
- Nausea, vomiting
- Lack of energy
Slow to gain weight - An enlarged liver when examined by a doctor
- Elevated liver enzymes
Rarely, if liver disease progresses to become more severe:
- Itching
- Intestinal bleeding (vomiting of blood, black or red stools)
- Poor blood clotting causing easy bruising or recurrent nose bleeds
- Fluid retention causing rapid weight gain in an infant, abdominal distension due to fluid (ascites)
- Sleep disturbance
- Irritability, confusion
- Enlarged spleen when examined by a doctor
Treatments
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.