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Doctors use blood and urine tests to test liver function in people suspected of having alpha1antitrypsin deficiency. If a person has cirrhosis, the doctor may be able to feel abnormalities in the liver during a physical examination. A CT scan (see page 112), ultrasound scan (see page 111), and a radioisotope scan (see page 114) of the liver and spleen can also detect liver damage.

Treatment

Treatment of alpha1-antitrypsin deficiency focuses first on protecting the lungs from damage. The single most important step to take to preserve lung function is to avoid smoking. People who have alpha1 -antitrypsin deficiency should get yearly immunizations for influenza (see page 649) and pneumonia (see page 660) and see their doctor at the first sign of a cold or other respiratory problem (when white blood cells travel to the lungs to fight infection). Drinking alcohol can accelerate the liver damage. To counteract the weight loss caused by the liver damage, affected people need to consume a sufficient amount of calories.

To reduce shortness of breath, doctors may prescribe medication such as bronchodilators (to expand the airways) and inhaled corticosteroids (to fight inflammation). Weekly intravenous infusions of alpha1-antitrypsin (derived from pooled human blood) can be given intravenously (through a vein). Some people with the disorder may need supplemental oxygen.

Autosomal Dominant Disorders

A dominant gene, whether it’s a gene for eye color or a disease, will determine the characteristic or disorder no matter what type of corresponding gene is on the matching chromosome. For example, the gene for brown eyes is dominant. If a child inherits a gene for brown eyes from one parent and a gene for blue eyes from the other parent, the child will have brown eyes. If both parents have brown eyes, each could also have a gene for blue eyes and, if each parent transmits the blue-eye gene to a child, the child will have blue eyes. In the same way, a person who receives a defective copy of a dominant disease gene, such as the gene for Huntington disease (see page 969), will have the disease. If one parent has a dominant gene for a disorder, each of his or her children has a 50 percent chance of inheriting the gene and also having the disease.

Dominant inheritance

In dominant genetic traits and disorders, a person needs only one copy of the dominant gene to have the trait or disorder. A person who has a dominant trait such as brown eyes or a dominant genetic disorder such as Marfan syndrome has a one-in-two (50 percent) chance of passing the gene to each child. He or she also has a 50 percent chance of passing the healthy copy of the gene to each child, who will be unaffected. Most dominant traits and disorders affect males and females with equal frequency. A child can be born with a dominant disorder either by inheriting the gene from a parent who is also affected or as a result of a new gene change (mutation) that occurred in a parent’s egg or sperm cell before conception.

Marfan Syndrome

Marfan syndrome is a rare inherited genetic disorder that affects connective tissue throughout the body, including in the bones, lungs, eyes, heart, and blood vessels. People with Marfan syndrome do not produce normal amounts of an essential component of connective tissue called fibrillin, which binds cells together and strengthens tissues. The disorder affects people of both sexes and of all racial and ethnic groups. With appropriate treatment and regular monitoring by a doctor, most people with Marfan syndrome live into their 70s and longer.

If you or another member of your family has Marfan syndrome, genetic counseling (see page 952) can help you determine your risk of passing the disease on to a child.

Symptoms

The symptoms of Marfan syndrome can vary greatly from one person to another. In mild cases, the symptoms may not be noticeable until age 60 or later. In rare, severe cases, serious problems may be evident at birth. People with Marfan syndrome usually begin to develop