Genetic Liver Diseases

The liver is a very important organ in the human body. While alcohol, poor diet and other factors can take a toll on the liver and its functioning, sometimes an individual’s genetic make-up is to blame. Scroll below to learn about genetic diseases of the liver.

Genetics play an important role in the average human’s health. From our physical features to the condition of our immune system, there are many characteristics that are purely hereditary in nature. And genetics also determine the occurrence of diseases in different body parts.

Genetic Liver Diseases List

The presence of a mutated gene in both or one parent can create a disease or illness in the offspring. No body part is safe from contracting a genetic disorder. In this article, learn about various hereditary liver diseases and their characteristics.The following are the different illnesses that affect the functioning of the liver.

Hemochromatosis

Gene	Multiple (HFE, HJV, TFR2, ferroportin)
Epidemiology	Highly prevalent amongst Caucasians especially Western Europeans. Occurrence rate of 2 individuals in every 1000. Men are at a higher risk than women, with a 5:1 ratio of infection. Most common iron overload disease and a very common illness.
Symptoms	Pain in the abdomen Aches and pain in joints Lack of sexual desire Feeling tired with low energy levels Skin tone becomes dark or bronzed Loss of weight and body hair
Prognosis	If ill-treated, hemochromatosis can lead to serious liver diseases like cirrhosis, liver cancer or inflammation of the liver. Treatment is two-phased and consists of removal of excess iron and repairing damaged body areas.

Description : This disease, in its primary form is genetic and in its secondary form, can be caused by different factors. Iron is an important nutrient and it’s absorption in the body is carried out by the liver. The mutated gene cannot regulate or control iron levels in the body, leading to the accumulation of iron in the liver. It is recessive in nature, where 2 copies of the mutated gene will cause this disorder.

Wilson’s Disease

Gene	ATP7B
Epidemiology	Estimated 1 among a population of 40,000 are affected. It has no gender prevalence but Eastern Europeans and Italians have a high occurrence rate.
Symptoms	Cannot walk, swallow or talk properly Pain in joints Chills or tremors in parts of the body Stiffness in various body parts Yellow skin tone and white area of eyes turns yellowish Dementia and personality change Feeling tired and weak Vomiting blood Kayser-Fleischer rings in eyes (rusty-brown ring at iris and cornea)
Prognosis	Excess copper enters the bloodstream and from there can affect the brain, kidney and eyes. Hence the complications of this disease are possible brain or kidney damage with serious liver issues like cancer, liver failure and cirrhosis. Treatment mainly focuses on reducing copper content in the body through chelation. Particular diet and medications are prescribed and in most cases, treatment cycle is permanent or lifelong.

Description : This is a rare liver disorder, whose occurrence depends on the presence of the mutated gene in both parents. It is caused by an overload of copper content in the body. The liver is responsible for copper collection and manipulation. The excess copper is converted into bile. But if the ATP7B gene is absent or damaged, the liver is unable to synthesize copper and it accumulates in the liver.

Alpha-1 Antitrypsin Deficiency

Gene	SERPINA1
Epidemiology	Prevalent among Europeans and Saudi Arabians, even among Americans of European descent. An estimated 1 in every 5000 – 7000 people are affected in America alone.
Symptoms	Difficulty in breathing, even with mild tasks Repeated wheezing Sudden weight loss Similar symptoms of COPD (lung disease) Feeling tired
Prognosis	The impact of this deficiency disorder on the lungs and liver is long-term and very serious. Emphysema is a common complication, others are liver scarring (cirrhosis), lung infections and liver cancer. The missing AAT protein intake is provided artificially through intravenous infusions. This is called augmentation therapy.

Description : Alpha-1 Antitrypsin is a “protease inhibitor”, which works in the lung and the liver, keeping them active and functioning properly. A mutated gene can lead to defective creation of this protein, where its excess can accumulate in the liver or it fails to function properly in the lungs or liver. 2 defective genes will result in the occurrence of this disease.

One realizes how much human health depends on the liver, with the above genetic liver diseases. The presence of one mutated gene makes the individual a carrier and hence the risk of a liver illness remains among his progeny and generations to come.