Often misdiagnosed, it's time to raise awareness of the rare disease amyloidosis

Posted 2/29/24

(BPT) - What started as a dream trip to Hawaii became a medical turning point for Sally Cox. While snorkeling in the crystal-clear waters, she suddenly found it difficult to breathe and nearly …

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Often misdiagnosed, it's time to raise awareness of the rare disease amyloidosis

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(BPT) - What started as a dream trip to Hawaii became a medical turning point for Sally Cox. While snorkeling in the crystal-clear waters, she suddenly found it difficult to breathe and nearly drowned. Shocked, scared and confused, she immediately went to a local doctor to get answers.

The doctor in Hawaii said she had pulmonary edema and should be assessed further. She met with a cardiologist as quickly as possible, and ultimately received a diagnosis she had never heard of before: amyloidosis.

What is amyloidosis?

Amyloidosis is a group of rare diseases caused by abnormal proteins that misfold and clump together to form toxic amyloids that deposit in tissues or organs. When amyloid builds up in certain body parts such as the heart, kidneys, liver, nervous system and digestive tract, it can result in significant organ damage or organ failure that can severely impact quality of life and can be fatal.

The symptoms of amyloidosis

Sally began to learn more about her amyloidosis and, in hindsight, realized there were signs of the disease that had started three years before, including carpal tunnel syndrome in both hands, skin bruising, hair loss, lack of appetite and an abnormal EKG. Many symptoms are frequently overlooked or misdiagnosed.

While Sally was diagnosed with amyloidosis relatively quickly, that is not generally the case. This was the experience for Michael Lane, whose amyloidosis diagnosis journey took 10 years and was riddled with misdiagnoses.*

Michael's symptoms started as tingling in the legs and numbness in his hands. He would also lose his breath easily. Looking for answers, he went to a neurologist, orthopedic specialist and a cardiologist — just to name a few. It wasn't until he was in the hospital for a heart procedure that the doctor on rounds stopped and ultimately refused to continue until more was understood about his condition.

Michael switched to this new doctor who gave him a battery of tests and ultimately the correct diagnosis of amyloidosis.

*A transthyretin-mediated amyloidosis diagnosis can be delayed by 3-4 years on average.

Diagnosing amyloidosis

There are different types of amyloidosis with varying severities, including amyloid light chain (AL) amyloidosis and transthyretin-mediated amyloidosis (ATTR), such as ATTR-CM, which can cause heart failure (cardiomyopathy) and ATTR-PN, which affects the function of peripheral nerves (polyneuropathy). Without treatment, these diseases can lead to impairment, disability and even death. Regardless of the type, there is no cure for amyloidosis.

Identifying amyloidosis diseases can be difficult because signs and symptoms may manifest similarly to other diseases. Once suspected, blood and urine tests may be conducted, in addition to a tissue biopsy to confirm the type of amyloidosis. Imaging, such as a CT scan, of the impacted organs may determine the severity of the condition. Genetic testing may also aid in the diagnosis for those with hereditary forms of ATTR amyloidosis.

Treatments and therapies

When Sally was diagnosed with AL amyloidosis in 2019, she was told she had six months to live. She joined a clinical trial hoping to receive the new medicine that was being tested. Although she was disheartened when she was selected to receive the current standard of care instead, she showed a positive response to the treatment and that response continues today.

"When I was diagnosed, there were about three options for treatment. Today there are many more," said Sally, who is trying to raise awareness about the disease.

Michael, living with transthyretin-mediated amyloid cardiomyopathy

When Michael was diagnosed with ATTR-CM in 2018, he was told he had about two years to live. Desperate for options, he thoroughly searched for clinical trials where he might be able to receive an investigational treatment, but only found one that was taking place overseas, which made him ineligible to participate. After more research, he learned he qualified to receive an investigational therapy, which helped his condition.

Like Sally, Michael recognizes the expansion of treatment options in the US over the last five years and has benefited from some of them. However, most existing amyloidosis treatment options focus on preventing or suppressing the formation of new amyloid deposits rather than addressing the amyloids that have existing deposits that drive organ dysfunction. Given the progressive nature of amyloidosis and the significant impact on quality of life, there is a need for additional treatment options to halt and reduce organ damage across all stages of disease.

AstraZeneca and its Rare Disease Unit, Alexion are committed to raising awareness of the disease and the need for additional treatment options. Learn more at Alexion.com and Astrazeneca-us.com.

Advice to others with amyloidosis

Learning you or a loved one has amyloidosis can be a complex and emotional time. Michael's advice to others: "Be your own best advocate. Fight for yourself. Make sure you have a doctor that specializes in amyloidosis. If not around you, go to a center that does. A lot of doctors don't know about this disease. It's not on their radar."

Sally agrees that it's important to ask questions, educate yourself and make the best choices for you. She continues to spread hope for people with amyloidosis. Her advice to others is, "You can get better. Stay positive — it makes a difference."

This article is sponsored by Alexion, AstraZeneca Rare Disease.

US/NP/0036 V1 11/2023