Wilson Disease

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Wilson disease is a rare inherited condition that causes copper to build up in your body. It can cause a range of liver, neurological, and psychological issues over time. Here’s what you need to know about this disease.

Causes and Risk Factors

This is an inherited disease, meaning it is passed down in families genetically. It is passed down as an autosomal recessive trait. To develop the disease, you must have a copy of the mutated gene from both parents. If only one parent has the defective gene, a child will not have Wilson disease. You are at a higher risk of Wilson disease if you have a parent or sibling with the condition. If you know you are a carrier of the defective gene, you should be aware that you could pass it to your children as well.

Symptoms of Wilson Disease

People with Wilson disease often develop symptoms between the ages of 5 and 35. However, it is possible to experience symptoms within the age range of 2 to 72. Symptoms occur due to copper buildup in the body, which is what this disease causes. When copper builds up in the brain, liver, and eyes, it can lead to various symptoms. Liver disease is most often the first feature of Wilson disease in children and teenagers. Symptoms associated with this include jaundice, lack of appetite, and abdominal swelling. People diagnosed later in adulthood are more likely to have developed neurological and psychological symptoms. The symptoms associated here include problems with speech or physical coordination, uncontrolled movements, mood swings, depression, and anxiety. Many people with Wilson disease, at all ages, develop golden-brown pigmentation around the corneas as well.

Diagnosis

Diagnosing Wilson disease is often challenging since its symptoms are also caused by other liver diseases. Some of the behavioral changes that develop in people with the condition are hard to link to Wilson disease as well. One way doctors can diagnose the disease is during an eye exam using a microscope with a light source. They look for golden-brown pigmentation around your corneas (called Kayser-Fleischer rings) and a specific type of cataract associated with the disease. In fact, in some cases doctors find Wilson disease during routine eye exams.

Doctors can also use blood tests to measure copper levels in your blood, and can use urine samples to measure copper levels in your urine. They can also pursue a liver biopsy to get a sample of your liver to analyze in the lab. If you have parents or siblings with Wilson disease, doctors may suggest genetic testing to screen for the mutated gene that causes the disease.

Complications and Treatment

Over time, Wilson disease can be very serious or even fatal if left untreated. People with the condition can develop cirrhosis (liver scarring), liver failure, kidney problems, neurological problems, psychological issues, and blood problems. Ultimately, the copper buildup that results from the disease can cause severe or fatal damage to the brain, liver, and other organs.

Fortunately, Wilson disease is treatable. Doctors first prescribe medications that reduce copper levels in your body and prevent future buildup. It is likely that you will have to take a course of medications for the rest of your life to help manage copper levels in your body. Often, symptoms begin to improve once you start treatment. Your doctor will also instruct you to avoid certain copper-rich foods like shellfish, and may need to avoid alcohol if you have suffered liver damage from the condition. In more severe cases, you may need a liver transplant if you have suffered significant liver damage.

Our experienced team at GHP has years of experience treating patients with conditions including Wilson disease. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Welcome Dr. Luckett!

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Gastroenterology Health Partners is pleased to announce that Robert Tyler Luckett, MD will be joining our practice. Dr. Luckett is currently finishing a gastrointestinal and hepatology fellowship at the University of Louisville and will join GHP in June.

GHP continues to lead the Kentuckiana region with its structure as a large, independent, GI-subspecialty private practice. Dr. Luckett’s addition to the team will contribute to the continued improvement of quality, cost, and access that sets GHP apart.

Read on to learn more about Dr. Luckett’s background.

A Look at Primary Sclerosing Cholangitis

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Primary sclerosing cholangitis (PSC) is a chronic disease that damages your bile ducts. This is an uncommon disease, and is most likely to occur in people who have inflammatory bowel disease (IBD). Here’s what you need to know about PSC.

Causes and Risk Factors

There is no clear cause of PSC in general. It’s possible that it can occur in people who have a genetic predisposition to the disease when their immune system responds to a toxin or infection. We do know that PSC tends to occur mostly in people with IBD, which includes ulcerative colitis and Crohn’s disease. PSC tends to occur more often in men and people with Northern European heritage, and is most often diagnosed between 30 and 40 (though it can occur at any age).

Symptoms of Primary Sclerosing Cholangitis

In people with PSC, their bile ducts become blocked by inflammation and scarring over time. PSC is a very slowly progressing disease- many people do not have any symptoms until several years into having the disease. Symptoms of PSC early on include itching, fatigue, and abdominal pain. As it progresses, symptoms can include weight loss, fever, an enlarged liver or spleen, and night sweats. Depending on the person, these symptoms can appear more quickly or slowly.

Diagnosing Primary Sclerosing Cholangitis

In many cases, doctors diagnose PSC incidentally while doing blood testing or an X-ray for an unrelated condition. This is due to the often slow progression of PSC symptoms (as mentioned before)- many people do not have any PSC symptoms that would lead them to go to their doctor. However, there are a few diagnostic tests doctors use to identify this disease. They can perform a blood test to check your liver function, which can support a PSC diagnosis. Additionally, they may take an MRI of your bile ducts to visualize them and identify any signs of PSC. Finally, if other diagnostic testing is inconclusive, they may perform a liver biopsy by removing some liver tissue with a needle and testing it in a lab.

Complications and Treatment

People with PSC and IBD are at an increased risk of colorectal cancer. They also have an increased risk of bile duct cancer and cirrhosis. As such, they should consult closely with a medical provider to monitor their condition over time.

Treating PSC involves first managing the symptoms and mitigating complications from the disease. Doctors can treat itching with specific medications they can prescribe. Sometimes, backed up bile (due to narrowed ducts) can cause recurring bacterial infections; in this case, doctors may prescribe antibiotics. Bile ducts can also become blocked due to scarring and inflammation in people with PSC. Doctors can either place a stent in the bile duct or dilate the bile duct with an endoscopic procedure. However, blockage can sometimes be a sign of cancer or a precursor to liver failure. In serious cases of PSC, you may need to pursue a liver transplant. This is the only way to fully treat the disease.

There are some lifestyle changes you can make to help manage PSC as well. Avoid alcohol, maintain a healthy weight, get vaccinated against Hepatitis A and B, and follow your doctor’s prescriptions carefully. A combination of lifestyle changes and treatments targeting both symptoms and potential complications is often the best course of action for people with PSC. You should consult with your doctor to establish the best plan of care.

Our experienced team at GHP has years of experience treating patients with liver conditions. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Liver Transplant: An Overview

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A liver transplant is a surgical procedure in which doctors remove a diseased liver and replace it with a healthy one. This may involve replacing the entire liver or just a section of it. Here’s what you need to know about this procedure.

When is a liver transplant pursued?

A liver transplant is often the best option for people with uncontrollable liver failure. In most cases, liver failure in adults is caused by a chronic condition. For instance, cirrhosis is one factor that leads to liver failure over time. Hepatitis B, hepatitis C, alcoholic liver disease, cancer, and some genetic diseases can also cause liver failure in adults. Children sometimes need a liver transplant as well, often due to genetic disorders or diseases affecting the bile ducts or liver.

Before the procedure

Leading up to a liver transplant, doctors assess your condition with rigorous testing to see the severity of your liver failure and whether you should get a liver transplant. This includes blood testing, diagnostic testing, a psychological evaluation, and more. All of these factors go into whether you may be placed onto the national liver transplant waiting list. Some reasons people are not able to get a transplant include having a chronic untreatable condition, having metastatic cancer, drinking too much, and having severe heart issues.

If you are able to get a transplant, you’ll be placed on the waiting list. People who need a transplant most urgently are at the top of the list, and people with a less urgent need are further down the list. Your place on this list is determined with a structured scoring system called the Model for End-Stage Liver Disease (for children under 12, the Pediatric End-Stage Liver Disease (PELD) is used instead).

If you are preparing for a transplant, your doctor will discuss the steps you need to follow before the procedure. These steps can include avoiding eating and drinking 8 hours before the surgery. If you are receiving a transplant from a living donor, your surgery will be scheduled out in advance. However, if you are receiving a transplant from a deceased donor, you may be called to the hospital for an immediate procedure.

During the procedure

During a liver transplant, doctors sedate you and make an abominable incision while monitoring your vital signs. They remove the diseased liver (or portion of liver) from your body and replace it with the healthy donated liver. They work to connect your blood vessels and bile ducts to the new liver. This is a long process and can take up to 12 hours depending on your situation.

After the procedure

Following a liver transplant, you will spend a few days in intensive care until your condition is stabilized. During this time, doctors will monitor your condition to ensure the transplant has gone well. You will likely be on a ventilator to help you breathe initially. You may also receive IV drips, antibiotics, and anti-rejection medications to help fight against your body’s immune response to your new liver. After you have stabilized, you may spend a week or two more in the hospital in a general non-intensive care room to recover.

Once you have returned home, you will need to follow your doctor’s instructions on keeping your surgical area clean. You should report any symptoms like jaundice, fever, bleeding, or redness around the incision site.

You will also need to take anti-rejection medication indefinitely following the transplant. This involves taking immunosuppressants that weaken your immune response so that your body doesn’t reject your new liver. This puts you at a higher risk of infections, and can also increase your blood pressure and put you at risk for diabetes. Fortunately, over time you will be able to take less medication as your body adjusts. You should consult with your doctor closely to follow the best plan.

Our experienced team at GHP has years of experience treating patients with liver conditions. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Colorectal Cancer Disparities and the Importance of Screenings

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Did you know? There are significant disparities around colorectal cancer screenings and disease outcomes based on race, ethnicity, socioeconomic status, and more. For example, in the United States Black and Hispanic people are less likely to get prompt follow up after an abnormal screening results. They are also more likely to be diagnosed with late stage cancer. Additionally, American Indian and Alaska Native people are the only groups where colorectal cancer death rates aren’t declining. You can read our blog post on disparities in colorectal cancer here to learn more about these disparities and the importance of screenings.

Gastro Health Partners strongly believes in early and regular screenings, starting at age 45. Our experienced team at GHP has years of experience screening for colorectal cancer. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

What is the low FODMAP diet?

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The low FODMAP diet is a temporary diet designed to help people with IBS (irritable bowel syndrome). In this diet, you tactically remove FODMAP foods to eliminate IBS symptoms, and then slowly add them back in to identify which cause you issues. You can think of it as a short diet that will help identify problem foods to avoid long-term. Today on the blog, we’ll go into detail on the FODMAP diet and how it can help you.

What is FODMAP?

FODMAP stands for fermentable oligosaccharides, disaccharides, monosaccharides, and polyols. Basically, these are all short-chain carbohydrates (sugars) that you can find in foods. The small intestine may absorb these poorly, causing stress on the digestive system. Many people with IBS are sensitive to some of these sugars, and can experience symptoms like bloating, diarrhea, and cramping if they eat them. This diet is designed to remove foods that contain the sugars to help relieve symptoms first.

Phase 1 of a FODMAP Diet

In the first phase of this diet, you’ll avoid eating certain foods. The foods you remove in a FODMAP diet include milk, honey, fruits, beans, sweeteners, and more. Your medical provider will provide specific guidelines to follow. For this phase, you’ll need to avoid FODMAP foods for 4-6 weeks. This may help eliminate symptoms you’ve had from the foods. For people with a bacterial overgrowth issue in their small intestine, it gives time for the bacteria levels to decrease.

The diet does eliminate a lot of foods you may be used to eating. Some foods you can continue to eat in this phase of the diet include eggs, meat, certain cheeses (like brie), potatoes, grapes, and almond milk.

Phase 2

Phase 2 involves slowly reintroducing certain foods. While Phase 1 is all about eliminating everything and calming down symptoms, Phase 2 is an exploration of what specific foods you react to. The way this usually works is by adding one FODMAP food back into your diet every few days. This gives you time to see if the latest food you added causes any reaction. When you encounter a reaction from a specific food, you will be able to avoid that food long-term with this knowledge.

Effectiveness

The FODMAP diet approach is considered one of the most effective therapies for treating IBS. It reduces symptoms in around 86% of people. However, since it is so restrictive initially, you will need to work with a doctor or dietitian who can coach you on staying healthy while avoiding FODMAP foods. They can provide a full list of FODMAP foods, and provide key guidance while you undergo this therapy. When successful, the long-term dietary changes you make as a result of FODMAP dieting are a powerful tool to reduce IBS and bacterial overgrowth symptoms.

Our experienced team at GHP has years of experience treating for IBS. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.