Did you know that APOL1-mediated kidney disease (AMKD) is a serious genetic disease that impacts people of African ancestry? AMKD affects thousands of Black women and men, however, it’s not yet widely known or diagnosed in the United States. Therefore, we want to recognize AMKD Awareness Day, held annually on the last Tuesday of April. Now is the perfect time to learn more about AMKD, have open conversations about your health with your family and doctor, and seek additional testing resources, if needed.

“This disease has a huge impact on my daily life,” said Emani McConnell-Brent, an advocate and ambassador for the American Kidney Fund (AKF), currently living with AMKD. “I don’t feel like I have the luxury to operate in the world like an average 21-year-old.”

While kidney disease is often regarded as an older person’s disease, Emani’s story is unsurprising once you learn that AMKD can develop at a young age in otherwise healthy people and can advance faster than other kidney diseases.

Chronic kidney disease is often regarded as a “silent” disease as it typically has no noticeable symptoms until the kidneys have declined dramatically, often necessitating kidney dialysis and potentially, a kidney transplant.

In the U.S., there are clear disparities among those affected by kidney disease. “People of all races and backgrounds can have kidney disease,” says LaVarne Burton, president and CEO of AKF. “But people of color are more likely to be affected by kidney failure.” Kidney disease affects one in seven American adults, however, the prevalence of end-stage kidney disease (kidney failure) among Black people in the U.S. is over four times that of White people.

One cause for the higher prevalence in kidney failure among Black Americans is genetics—specifically changes in the APOL1 gene. Everyone has two copies of the APOL1 gene (one from each parent), but people of Western and Central African ancestry are more likely to have changes (variants or mutations) in their APOL1 gene that can cause AMKD. An estimated 13% of Black Americans have the two APOL1 gene variants (mutations) that are associated with AMKD. “Those who have variants in both copies of the APOL1 gene have a one-in-five chance of developing kidney disease, therefore, it’s critically important for people who are Black, Afro-Caribbean, African American or Hispanic/Latino to be aware of AMKD and have kidney health conversations with their doctor,” explains LaVarne.

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What to Look For

If you have not been diagnosed with chronic kidney disease but have started noticing symptoms such as uncontrolled high blood pressure, swelling, fatigue, headaches, foamy urine, itchy skin, and/or muscle cramps, talk to your doctor about whether you should get tested for kidney disease.

“For those at risk for AMKD, there are steps that can be taken to promote kidney and general health, including regular visits with your doctor, maintaining a healthy eating plan, taking all medicines as prescribed, being active at least 30 minutes a day most days of week, and avoiding tobacco,” says Pranav Garimella, chief medical officer, American Kidney Fund.

It’s important to note that people with APOL1 gene variants that cause AMKD are not guaranteed to develop kidney disease. “They should be aware of the possibility, and discussing kidney health and symptoms with their doctor, given that AMKD generally progresses to kidney failure more rapidly than kidney disease caused by other factors,” says LaVarne.

AMKD can present in a variety of ways—including (but not limited to) focal segmental glomerular sclerosis (FSGS), hypertension (blood pressure)-associated kidney disease, HIV-associated nephropathy and lupus nephritis. So, people who have already been diagnosed with a form of chronic kidney disease may have AMKD without knowing it, and the only way to confirm is through a genetic test.

If you have already been diagnosed with kidney disease, talk to your doctor about whether getting a genetic test to learn if you have the APOL1 genetic variants is the right next step.

Emani’s Story

Emani’s symptoms first appeared at 17 years old. Emani started having unexplained symptoms, leading to collapsing, and her mother rushed her to the emergency department. “I experienced edema, chronic fatigue, proteinuria, and stomach pain. However, records show that my pediatric physicians noticed I had had protein in my urine since I was seven years old, but it was ignored and said to be caused by an unhealthy diet,” says Emani. “At the point of hospitalization, that major symptom had been ignored for 10 years.”

 At the hospital, Emani was given a diagnosis of kidney disease, and the nephrologist mentioned several possible causes of it, including lupus. The experience was frightening and so anxiety-inducing that Emani opted for a biopsy right then and there. When the results came back, she was diagnosed with focal segmental glomerulosclerosis (FSGS), a form of AMKD. “At that point, I thought my family and I had received all the answers we needed, but almost a year and three medications later, nothing was working,” says Emani. “My nephrologist suggested genetic testing, and I was diagnosed with AMKD as the root cause of my FSGS.”

Receiving this diagnosis has made a huge impact on Emani’s daily life. “Before class, I have to check my blood pressure, eat breakfast, take medications, check my legs for swelling, and put on compression socks if needed,” says Emani. “It has forced me to be transparent about my diagnosis with friends. While it’s normal for them to want to go out and have fun, I simply don’t have the same amount of energy as them.”

Power Forward Together

Powering forward means taking action—having open conversations with family and your health care team about your health, family history of kidney disease and learning whether you’re at risk for developing AMKD.

If you have kidney disease, genetic testing is the only way to know if you have AMKD and deciding whether to have a genetic test is a personal decision. Knowing if you have AMKD can help you and your doctor decide how best to manage your disease and take care of your kidneys. While there are currently no medicines to treat the root cause of AMKD, new potential treatments for AMKD are being studied, and you may be eligible to participate in that research.

That’s why the American Kidney Fund launched AMKD Awareness Day to increase recognition of AMKD and encourage people to become APOL1 Aware. “We want people to better understand how their genes can impact their kidney health, and share that knowledge,” says LaVarne.

If you have AMKD, you may be able to take part in a clinical trial.

“This could provide an opportunity for researchers to investigate treatments for AMKD,” Pranav said.

“My plan moving forward is to stay focused, stay positive, and share my journey as it unfolds,” says Emani. “My advice is to pay attention to what your body is telling you, no matter how old or young you are.”

Learn more about AMKD and taking care of your kidney health at www.KidneyFund.org/APOL1   or www.PowerForwardTogether.com.