Fibroscan Archives - AZ Clinical Trials

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September 28, 2022 Liver DiseaseUncategorized0

Genetic liver diseases are rapidly becoming a more prevalent cause of liver disease, showing us that more than just good looks can run in the family. Learn more about genetic liver diseases, the most common kinds, and why maintaining good liver health remains important.

About Genetic Liver Diseases 

Genetic liver diseases are a group of metabolic and genetic defects that are known to cause chronic liver disease. Unlike a liver condition such as NASH that’s typically caused by environmental and lifestyle factors, genetic liver conditions are hereditary and are likely to be found in close relatives or family members. The most common and critical genetic liver conditions are Alpha-1 Antitrypsin deficiency, hereditary hemochromatosis (HHC), and Wilson’s disease. However, various inheritable liver conditions exist but are rarer, such as Alagille syndrome and Crigler-Najjar syndrome. These inherited liver conditions can lead to various health complications and over time can manifest into liver scarring, cirrhosis and in some cases, liver failure.

Alpha-1 Antitrypsin Deficiency 

Alpha-1 antitrypsin is a protein made by the liver that serves to protect the lungs. An alpha-1 antitrypsin (AAT) deficiency is a hereditary condition classified by the lack of a distinct enzyme. As a result, excess alpha-1 antitrypsin can accumulate in the liver. It’s not uncommon for adults afflicted by AAT deficiency to be asymptomatic until it advances into cirrhosis. Symptoms may be chronic or occur with acute respiratory infections and may include:

  • Chest pain that escalates when breathing in
  • Continuous exhaustion and low energy
  • Decreased ability to exercise
  • Excessive coughing with phlegm
  • Lack of appetite
  • Shortness of breath and wheezing

Initial symptoms of AAT deficiency typically occur between the ages of 20-50 but affect some as early as infancy. If the lung disease associated with the Alpha-1 antitrypsin is not severe, those who develop cirrhosis and liver failure might be eligible for a liver transplant.

Hereditary Hemochromatosis 

Hereditary hemochromatosis (HH) occurs when a surplus amount of iron gathers in the body. Excess iron in the body is toxic, and if left untreated, iron levels rise over time, and organ damage can cause cirrhosis and liver cancer. Hemochromatosis patients are revealed mainly through abnormal iron levels via bloodwork but can also be detected through genetic testing, and some may require a liver biopsy.

Cartoon image depicting healthy liver compared to a liver affected by hereditary hemochromatosis.

Symptoms include abdominal pain, bronze or grey clear skin, joint pain, lethargy, loss of sex drive, and weight loss. The leading cause of death for HH patients is liver-related complications. The earlier you can achieve a diagnosis, the increased likelihood of avoiding these complications.

Wilson’s Disease 

Approximately one in 30,000 people have Wilson’s disease. This genetic disorder doesn’t allow the body to discard extra copper, which causes a build-up in the liver and other organs. Like most things in life, moderation is essential, and the same can be applied to copper within our body. A person with a family history of Wilson’s disease is highly susceptible to also having it, with symptoms manifesting between the ages of 5-40. However, some diagnoses have been made as early as nine months and in adults seventy and up. It’s important to note that symptoms often remain undetected until it is too late but can be treated with appropriate medication if targeted appropriately.

Importance of Liver Health  

Liver health maintenance is vital especially for those who are living with genetic liver diseases or those who are genetically predisposed to developing one. Through a balanced diet, routine exercise, responsible alcohol use, and weight management, you can help maintain good overall health. In addition, regular liver scans and check-ups can help detect any issues sooner rather than later.

Benefits of a liver scan with arizona liver health - explore our studies today!

Click here to request your FREE and painless fibroscan appointment! Looking to explore other research options or to learn more about genetic liver diseases? Visit our website to browse enrolling studies or contact us to connect with our team of liver experts today!

 

Resources:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1303145/pdf/westjmed00361-0066.pdf

https://liverfoundation.org/liver-diseases/pediatric-liver-disease/alpha-1-antitrypsin-deficiency/

https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/definition-facts

https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/symptoms-diagnosis


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Cirrhosis is when the permanent scarring of the liver has replaced the healthy tissue. While cirrhosis is most often associated with chronic alcohol consumption, it is brought about by many types of liver disease. Here’s how you get from liver disease to cirrhosis.

Inflammation to Fibrosis

When you have liver disease, the liver enters into a perilous cycle to heal itself. The immune system sends the signal to repair cells triggering chronic inflammation and to continue depositing collagen. In a healthy liver, the collagen stiffens around the tissue, and any extra is discarded. However, with liver disease, there is no signal to stop the inflammation discarding the excess collagen. So, the inflammation and more deposits of collagen continues. This leads to more liver stiffening and the development of fibrosis.

Fibrosis is when collagen and other proteins build up between the cells. This forms scar tissue which can block or limit blood flow within the liver, eventually starving and killing healthy liver cells. More scar tissue forms, and unlike healthy liver cells, it cannot function or repair itself.

Fibrosis to Cirrhosis

While fibrosis is reversible even into the later stages of liver disease, there is a point where the damage is too significant, and the liver can’t fix itself. No treatment can cure cirrhosis; by staying away from things that could harm your liver further, like liquor, certain drugs, and fatty food, you can help improve some of the scarrings. Treatment for individuals with cirrhosis includes managing its symptoms and treating the underlying cause to prevent liver function from worsening or liver failure. Those with cirrhosis have a high risk of developing liver cancer and eventually needing a transplant.

Our livers are versatile, continuing to work even when they’ve become seriously scarred. Most individuals with liver disease do not know it until routine blood work picks it up or symptoms become present in the later stages. Talk with your doctor about preventative measures you can take if you’re at risk of liver disease.

Regular liver checks are important for those at high risk of liver disease.

Arizona Liver Health offers FREE fibroscans for adults at risk of liver disease. A fibroscan is a quick way to determine the health of your liver and the presence of liver disease. Should your results indicate fatty liver or other liver conditions, our staff will talk with you about enrolling studies that may be an option. To learn more, call us at (480) 470-4000, or fill out a request form online today!

Sources:

https://www.webmd.com/digestive-disorders/understanding-cirrhosis-basic-information

https://liverfoundation.org/for-patients/about-the-liver/the-progression-of-liver-disease/#cirrhosis-severe-scarring


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The number of U.S. adults with non-alcoholic fatty liver disease (NAFLD) currently sits around 25%. Approximately 2-3% of them will go on to develop non-alcoholic steatohepatitis (NASH). NASH is a more severe form of NAFLD and can lead to fibrosis, cirrhosis, and liver failure. By 2030, it is estimated this number will increase from 2-3% to up to 63%. Among the ethnic groups affected, Hispanic populations face the most significant risk of liver disease. Here’s why.

Dangers of NASH and Prevalence in Hispanics

NASH often stems from high-sugar, high-fat diets. To compensate, our livers begin storing excess fat. If nothing changes, inflammation occurs over time. Eventually, the inflammation progresses to cirrhosis, liver failure, liver cancer, the need for a liver transplant, and even death. NASH also has a close association with other conditions such as heart disease, which is the leading cause of death in patients.

Thirty million Americans have NASH. The problem is most don’t know it because there typically aren’t any symptoms. Liver disease is a top cause of death among Hispanics, with NAFLD being among the most prevalent type. Hispanics are more often diagnosed in more advanced stages of liver disease and less likely to get help. Hispanic mortality rates are double that of other races.

Risk Factors

Multiple factors are contributing to the disproportionate effects of liver disease on Hispanics. Each element is also a top cause of fatty liver disease. These include:

  • 43% of Hispanics in the U.S. are considered obese
  • 35% of Hispanics in the U.S. have metabolic syndrome
  • Diets high in carbohydrates and sugar
  • Many Hispanics possess the gene variation PNPLA3, which is associated with a heightened risk of NAFLD and NASH

The predisposition of Hispanics to these multiple risk factors further increases their risk higher than other ethnicities.

Be Proactive with Your Liver Health

By knowing the risk, Hispanic individuals can take steps to protect their liver health proactively. You can work with your doctor to routinely check your liver for any changes. Those with NAFLD or NASH can slow, stop, or reverse disease progression through healthier lifestyle changes. Prevention is also possible for at-risk individuals. Here are three lifestyle changes you can start immediately:

  • Maintaining a healthy weight
  • Eating a well-balanced, sensible diet
  • Exercising moderately at least five days a week for 30 minutes or longer

Lifestyle changes are the basis of liver disease treatment and prevention. By reversing the same behaviors that contribute to this condition, you can make a big impact on a healthier, better-functioning liver. The liver is a regenerative organ and can heal itself if caught in time. Don’t wait!

Millions of livers suffer in silence

Arizona Liver Health offers FREE fibroscans for adults at risk of liver disease. A fibroscan is a test that detects the stiffness in a liver to determine fatty liver disease or other conditions. It’s a quick, painless way to evaluate the health of your liver, and the results are immediate. There’s no cure for NASH. As a result, potential treatment options are under investigation in clinical research studies. If your results show the presence of liver disease, our team with review enrolling study options that may help.

Schedule your FREE fibroscan today! Call us at (480) 470-4000, or request an appointment online.

Sources:

https://txliver.com/media/hispanics-and-liver-disease/

https://salud-america.org/the-silent-liver-disease-epidemic-among-latinos/



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