Alpha-1 antitrypsin deficiency (A1AD) is a genetic disorder that causes reduced levels of alpha-1 antitrypsin (A1AT), a specific protein in the blood. The deficiency may predispose someone to several illnesses, including lung and liver disease.
A1AD most frequently affects people of northern or central European descent. Around 100,000 people live with A1AD in the United States. However, most individuals with A1AD go without a diagnosis, and figures suggest that doctors have diagnosed fewer than 10% of these individuals.
Around 10% of infants with A1AD develop liver disease, and 15% of adults develop liver damage because of scar tissue in the liver.
The symptoms and age that they appear vary, but they often begin between the ages of 25 and 50. However, liver symptoms may develop during infancy, childhood, adolescence, or adulthood.
Keep reading to learn more about how A1AD can affect the liver.
A1AD is a hereditary condition. This means that it passes down from biological parents to their children through their genes. If someone receives an atypical A1AT gene from each parent, they develop A1AD. If they receive a single atypical gene, they may experience some A1AD complications.
Most commonly, the gene mutations that cause A1AD are PiZ and PiS.
A person with A1AD has a SERPINA1 gene that has undergone certain genetic changes. This gene provides instructions for making the alpha-1 antitrypsin protein. Normally, the liver produces this protein, which enters the bloodstream and protects the body from damage.
However, in A1AD, the liver produces atypical proteins. These proteins become trapped and accumulate, leading to liver damage.
Babies may have various A1AD symptoms, including:
- yellowing of the skin called jaundice
- slightly raised liver enzymes
- dark brown urine
- pale stools
- itching
- enlarged liver
- bleeding
- an accumulation of fluids in the abdomen
- difficulties feeding
- development or growth issues
Children and teenagers may have the following symptoms:
- slightly raised liver enzymes
- severe liver problems
- portal hypertension, an increase of pressure in the liver’s blood vessels
- fatigue
- decreased appetite
- swelling of the legs or abdomen
- hepatomegaly, or enlargement of the liver
Adults
Some adults might experience the following:
- chronic active hepatitis
- cirrhosis
- portal hypertension
- hepatocellular carcinoma, a type of liver cancer
- increased susceptibility to infection
Certain risk factors can predispose people with A1AD to liver damage. These can include:
Doctors use blood tests to diagnose A1AD. The results may show low levels of alpha-1 antitrypsin protein and atypical liver enzyme levels.
They may also use the following tests:
- ultrasound imaging
- tests using specialized X-ray techniques
- liver biopsy
Doctors have no specific therapy for liver disease relating to A1AD. However, early research in animals has shown promise with drugs called rapamycin and carbamazepine. These drugs may increase the liver’s ability to break down unsecreted A1AT, but more research is necessary.
The management of A1AD-associated liver disease aims to ease symptoms. Options may include inserting shunts to lower the pressure within the liver’s blood vessels and liver transplants.
Also, many people with A1AD have lung symptoms. Doctors have a range of options for treating lung diseases, such as inhaled bronchodilators and steroids, antibiotics, and oxygen therapy.
Many people living with A1AD can live full, active lives with proper treatment and a few lifestyle changes. The outlook with A1AD can vary widely depending on how lung or liver damage progresses and how well people respond to treatment.
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Children are born with A1AD. Some infants may show signs of liver damage at birth or soon afterward. In other cases, symptoms might not develop until later in childhood or adulthood.
Inflammation of the liver, or hepatitis, can cause liver damage. It usually becomes apparent in the first few months of a baby’s life. Doctors may call this neonatal hepatitis.
A healthcare team carefully monitors the baby’s growth and development and weighs them weekly. They also measure their liver function with blood tests, scans, and sometimes a liver biopsy. This helps ensure that doctors recognize complications early on and can treat them promptly.
There is no definite way to know if a child will develop liver issues. If liver biopsies show that liver disease is worsening, doctors may recommend liver transplantation. The results of liver transplantation in children are excellent, with a 95% one-year survival rate.
Because A1AD is an inherited disease, the only way to prevent it is to undergo genetic counseling. This enables people to learn about the risks of passing the disease on to their children.
For those with A1AD, improving liver wellness may help reduce the effects of liver disease. This involves:
- maintaining a moderate weight
- eating a balanced diet
- exercising frequently
- avoid consuming excessive amounts of alcohol
- avoiding harmful substances, such as those from cleaning and aerosol products, insecticides, chemicals, and additives
- getting vaccinated against hepatitis A and B
A1AD is a rare genetic condition that can damage the liver. It occurs when the body produces atypical alpha-1 antitrypsin protein. Instead of protecting the body from harm, these atypical proteins accumulate in the liver and cause damage.
Symptoms may present during infancy or may only appear in older people. They may include jaundice, cirrhosis, portal hypertension, and increased susceptibility to infection.
There is no cure for A1AD, but treatments can ease symptoms and improve quality of life. These include liver shunts or liver transplants.