Road to Diagnosis: Anthony Villiotti’s MASH Story

I was first told that I was at higher risk for fatty liver disease in 2005. I had never heard the term before. My primary care provider didn’t seem too concerned about excess fat building up in my liver, and I felt fine. So, for the next nine years, I continued my life as normal. 

Then, in 2014, I was diagnosed with metabolic dysfunction-associated steatohepatitis (MASH)—formerly referred to as nonalcoholic steatohepatitis (NASH). MASH is a liver disease that can develop when fat builds up in the liver, causing inflammation, damage, and scarring.

Eventually, my MASH led to liver cancer, and I needed a liver transplant.

Looking back on my experience, I am confident that had I known earlier about the potential outcomes of fatty liver disease and the ability for fatty liver to be reversed, I wouldn’t have needed a liver transplant. I would have lived my life differently starting in 2005, when I first heard the term “fatty liver,” and prevented my disease from progressing.

I share my MASH diagnosis story here in hopes that others will learn from my experience and get the care they need, when they need it.

In 2005, I was 59 and enjoying retirement. I was overweight—something I’d been pretty much my entire life. I was also in my tenth or so year of having type 2 diabetes.

Because of my diabetes, I regularly saw my primary care physician every six months. During my August 2005 appointment, he said I was at high risk for fatty liver because of my weight and diabetes. I had never heard the term “fatty liver,” and he didn’t say much more about it. He told me to get bloodwork for my liver.

The next month, I got the bloodwork done. Providers measured my alanine transaminase (ALT) and aspartate transaminase (AST), two liver enzymes mostly located in the liver. Enzymes are proteins that speed up chemical reactions in the body. When your liver is damaged, ALT and AST get released into the blood. High levels of the enzymes in your blood mean you could have liver damage.

My ALT and AST levels were high, and my primary care physician said it meant I had fatty liver. But there was no discussion of what fatty liver could lead to or if it was something I needed to worry about. All he said was that I should lose some weight—something I had heard at every doctor’s appointment, so it didn’t really set off any alarm bells. I walked out of that office, not at all concerned about fatty liver.

I did not know that fatty liver, or metabolic dysfunction-associated fatty liver disease (MAFLD), could advance to more serious stages.

Fast forward nine years. In October 2014, my doctor saw that my liver enzymes were high enough to warrant a liver ultrasound. He said the imaging test was just a precaution, so I didn’t really think much about it. After all, I felt fine and didn’t have any symptoms. 

Looking back at my medical records, it turns out that my liver enzymes had bounced around between the time of my fatty liver diagnosis and the liver ultrasound. I hadn’t really paid much attention to my liver numbers over the years—no one had ever made a big deal about them. They’d be high most of the time, but sometimes they were normal. I realized they fluctuated with my weight.

I went to the imaging center to have my ultrasound done. I went home thinking nothing of it.

Then I got a call from the doctor. He left a message on my phone saying I had MASH with possible cirrhosis, which is severe scarring of the liver.

My wife and I thought he must’ve called the wrong patient. How could I have cirrhosis? I don’t drink or use drugs. Today, now that I know about MASH, I know the condition has to do with fat buildup, not alcohol and drug use. But at the time, assuming he had called the wrong patient, I called back. We found out he had called the right patient—it was I who had MASH.

He didn’t tell me what they found on the ultrasound to know it was MASH, and I didn’t ask. The phone message he left me was the first time I had ever heard of the condition. Not once in my nine years since I was first diagnosed with MAFLD did anyone ever tell me it could lead to MASH.

There are different stages of MASH. Earlier stages, when scarring is less severe, are reversible. The last stage of MASH, when cirrhosis is present, is not reversible.

To confirm that my MASH had entered the cirrhosis stage, my primary care physician, who ordered the ultrasound, told me to see a hepatologist, a doctor who specializes in disorders of the liver.

After visiting a few hepatologists, I found one with whom I was comfortable. She ordered a magnetic resonance imaging (MRI) scan for me in January 2015, which confirmed the cirrhosis.

The hepatologist and I talked about diet and other changes I can make to help manage the condition. I still wasn’t experiencing any symptoms, so I figured I must be okay. 

Between 2015 and early 2017, I lived life with MASH and cirrhosis. I saw my hepatologist and got an MRI of the liver every six months. I started getting a little bit tired, but I just thought that was a normal part of aging. I didn’t think it could have anything to do with what was going on in my liver.

Eventually, the MRIs started to show the scarring get progressively worse. After one of my regular MRIs, the doctor’s office called me and told me to come in earlier than six months. That’s not a good sign, I thought. 

I met with the hepatologist and an oncologist, who confirmed that I had liver cancer and would need a liver transplant. I was on the liver transplant list for nine months when I got the call that there was a match. The next morning, I got my liver transplant.

Since my successful liver transplant seven years ago, I have been busy spreading awareness about liver health and fatty liver disease through the nonprofit I created, Liver Education Advocates (formerly known as NASH kNOWledge).

Not everyone with MAFLD will progress to MASH like I did. About 20% of people with MAFLD are eventually diagnosed with MASH. I wish I had known that my MAFLD diagnosis could lead to a MASH diagnosis (and the eventual liver cancer and transplant). If I had known, I would have made different food and exercise choices years earlier.

In the years between my MAFLD and MASH diagnoses, I went to many doctor appointments. I know the MASH didn’t develop right before my last appointment; it was something that developed over time. That means my MASH could have been prevented or caught earlier if my doctors had taken my MAFLD more seriously.

After my experience, my primary care physician told me he was taking a much more aggressive approach with people who had been diagnosed with a fatty liver because he saw, with me, what could happen.

I’m glad my MASH diagnosis has already helped others, and I hope it continues to do so.