SNP Shot: Genomic Insights

Alcohol use disorder (AUD) is diagnosed when someone's drinking habits lead to significant difficulties. These problems can be health-related, social, and economic. Impaired judgment and reduced inhibitions from drinking can lead to dangerous behaviors like aggression, unprotected sex, and driving under the influence, putting both the individual and others at risk.

AUD is a broad term encompassing various levels of problem drinking. It includes alcoholism (also known as alcohol addiction), a chronic condition marked by an intense craving for alcohol and the inability to stop drinking once started. AUD also includes alcohol abuse, characterized by problematic drinking patterns without necessarily being addicted.

Consistent, excessive alcohol consumption alters brain chemistry, leading to tolerance. This means a person needs to drink more alcohol over time to achieve the same effects. Prolonged heavy drinking can also cause dependence. When a dependent person stops drinking, they experience withdrawal symptoms, both physical and psychological, such as sleep disturbances, irritability, anxiety, tremors, headaches, nausea, sweating, and depression. In severe cases, withdrawal can manifest as agitation, fever, seizures, and hallucinations, a condition known as delirium tremens.

Excessive drinking associated with AUD, and sometimes occurring in short periods (binge drinking), can result in a life-threatening overdose called alcohol poisoning. This happens when consuming a large amount of alcohol quickly disrupts vital bodily functions, including breathing, heart rate, body temperature, and the gag reflex. Signs of alcohol poisoning include vomiting, choking, confusion, slow or irregular breathing, pale or bluish skin, seizures, low body temperature, a buildup of ketones in the blood (alcoholic ketoacidosis), and unconsciousness. Without immediate treatment, alcohol poisoning can lead to coma, brain damage, and death.

Long-term, heavy alcohol use can damage various organs and systems. This can result in irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakened heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and weakened immunity. Chronic alcohol abuse also elevates the risk of certain cancers, including those of the mouth, throat, esophagus, liver, and breast. Drinking during pregnancy can cause birth defects and fetal alcohol syndrome, resulting in lifelong physical and behavioral issues for the child.

Inheritance:

While AUD doesn't follow a strict inheritance pattern, a family history of alcohol or other substance use problems increases a person's risk. Children of individuals with AUD are two to six times more likely to develop alcohol problems themselves. This increased risk is influenced by shared genetic factors, as well as environmental factors, lifestyle choices, and other non-genetic influences common within families.