Categorie: Tutti - genetic - symptoms - mutation - liver

da Angela Matthews mancano 4 anni

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Alcoholic Liver Disease

Alcoholic liver disease is characterized by long-term inflammation and the development of alcoholic hepatitis. Common symptoms include jaundice, nausea, abdominal swelling and pain, pale stools, dark urine, itchy skin, and chronic fatigue.

Alcoholic Liver
Disease

Alcoholic Liver Disease

Cause

Chronic heavy drinking
Alters liver's ability to metabolize fats

Fat builds up in the liver

Genetic Factors

Alcohol Dependence
Alcohol metabolism genes (Edinburgh & Foroud, 2013)

ALDH2

ADH1B

Alpha 1AT deficiency (Morrison & Kowdley, 2000)

Mutation in SERPINA1 gene (Genetics Home Reference, 2020)

Makes alpha 1AT proteins, protects the body from neutrophil elastase enzyme

Neutrophil elastase released to fight infections, but can attack body tissues when not regulated by alpha 1AT proteins

Hemochromatosis (HHC) (Morrison & Kowdley, 2000)

Iron deposits collect in liver and other organs

Type 4

AKA ferroportin disease

Symptoms begin in adulthood; men between 40-60 and women after menopause

Mutation in SLC40A1 gene

Makes ferroportin proteins

Transports iron from food into cells

Type 3

Intermediate between type 1 and type 2; symptoms usually appear before the age of 30

Mutation in TFR2 gene (Genetics Home Reference, 2019)

Makes transferrin receptor 2

Helps iron enter liver cells

Type 2

Juvenile onset, if untreated, potential fatal heart disease is evident by age 30

Mutation in HJV or HAMP gene (Genetics Home Reference, 2019)

HAMP

Makes hepcidin, inhibits iron absorption when iron levels are too high

HJV

Makes hemojuvelin protein, helps maintain proper iron levels by regulating hepcidin protein.

Type 1

Most common, symptoms begin in adulthood; men between 40-60 and women after menopause,

Mutation in HFE gene (Genetic Home Reference, 2019)

Produces surface cell marker for liver and intestinal cells that help detect the amount of iron in the body

Wilson's disease (Morrison & Kowdley, 2000)

Caused by mutation in ATP7T gener

Provides instructions to make copper-transporting ATPase 2

Transports copper from the liver to other parts of the body

Environmental Factors

Alcoholism
Advertising/Marketing

Alcohol advertisements creates an environment that suggest alcohol consumption and over-consumption are normal activities.

Availability

Underage individuals are more likely to drink when alcohol is freely available to them, either by purchasing it directly or when it's available at parties

The lower the price of alcohol, it's more likely individuals will drink.

The higher number of licensed liquor establishments in an area the more likely individuals are to drink

Societal Acceptance

high profile celebrities, sports star and local role models promoting alcohol with seemingly no adverse effects

Lack of consequences

Media glorifying drinking

Lack of Education
Liver Disease
Pollutants

Lead, mercury, PCB, pesticides, etc. (American Gastroenterological Association, 2009).

Increases risk for abnormal liver enzymes

Symptoms

Jaundice, nausea, abdominal swelling and pain, pale stool, dark urine, itchy skin, chronic fatigue, etc.
Scar tissue
Cirrhosis
Long term inflammation
Alcoholic hepatitis

Economic Factors

Homelessness increases the chance of alcohol use and misuse (Collins, 2016).
Neighborhood disadvantage, personal income, household income, education play a role (Collins, 2016).
People with a low socio-economic status tend to drink larger quantities (Collins, 2016).
People with a higher socio-economic status tend to drink more frequently (Collins, 2016)

Social Factors

Employment factors
Participating in binge drinking
The age someone starts drinking, peer pressure to drink
Education, high levels of stress
Low self-esteem
Drinking history
Long drinking history increases chance of alcohol dependence
Being in an environment where alcohol use and misuse is encouraged and accepted increase the risk of alcohol dependence and addiction.