Taking action to manage a rare hereditary disease: hATTR Amyloidosis traced back to Portugal
WASHINGTON – Angel says her family has been living with a rare disease they called “the curse” for generations.
Known as hATTR Amyloidosis, the life-threatening condition was first accurately diagnosed in her grandfather and great uncles in the 1980s.
“They’ve passed away from it in the 1980s and early 90s. Now, my mother’s generation and the older generation of my people are now showing symptoms,” said Angel, who is now helping to raise awareness about hATTR Amyloidosis by sharing her family’s experience.
She can be seen in a video produced by Bridge the Gap, a program designed by Cambridge-based Alnylam Pharmaceuticals to provide education on the often misdiagnosed hereditary condition.
Bridge the Gap uses ambassadors like Angel (without using their last names for privacy purposes) to help individuals recognize symptoms to gain a proper diagnosis.
Caused by a mutation (gene change) that affects the function of a protein in the blood called transthyretin (TTR), which is made primarily in the liver, the condition forms amyloid deposits in the heart, nerves and other organs and tissues, resulting in a series of debilitating symptoms and eventually shortening the average life expectancy.
The disease currently impacts about 50,000 people worldwide, and it is often passed down through generations.
“These are real people, these are real faces. We need research, we need management,” says Angel in the video. “We need people paying attention to us and knowing that this disease applies to real people.”
The condition was first described in Portugal and subsequently reported in other countries. Portugal has about 2,000 diagnosed symptomatic cases, while in the United States there are between 10,000 and 15,000 cases.
There are more than 120 gene variants known to be associated with the condition.
Talking about the prevalence of hATTR amyloidosis in a Neurology Live Peer Exchange webinar last year, Dr. P. James B. Dyck, a professor and consultant neurologist at Mayo clinic in Rochester, Minn., said there are endemic areas around the world for the condition, such as Portugal, Japan and Sweden.
“In the United States, it does not seem to be that we have definite centers,” he said. “Most cases that we are going to see in the United States are not going to have a good family history. Whereas if you go to areas in Portugal, it’s well known to run in families, and you’re going to identify it in endemic areas. In my practice, I have to keep an open mind as people with peripheral neuropathies walk through my front door, that hATTR may be the cause of that neuropathy.”
Many people remain undiagnosed or misdiagnosed
For many people living with hATTR amyloidosis, it can take years to be accurately diagnosed because symptoms can be easily overlooked as they often mirror those of more common conditions.
Giselle, an Alnylam patient ambassador living with hATTR amyloidosis, recently shared her family’s experience and misdiagnosis during an informational webinar hosted by the Portuguese-American Leadership Council of the United States (PALCUS).
She said that although she and her dad had been pretty healthy for most of their lives, some health concerns started to surface around 2002.
“I didn’t realize they would persist, progress and change my life over the next decade,” she said. “It all started with frequent urination.”
She eventually consulted a doctor and was diagnosed with interstitial cystitis, a chronic condition causing bladder pressure and pain and sometimes pelvic pain.
As time went on, other symptoms followed.
“I felt like I was racking up a grocery list of health problems,” she said. “I started having severe pain in my arms and legs. I was always constipated. I developed carpal tunnel syndrome. Strange bruises would just pop up on my thighs out of nowhere. The list goes on and on and on. After a while, I started feeling like I was a hypochondriac because I was seeing all these different doctors and specialists and no one could explain what was happening.”
Around that time, she realized her dad was also going through some mysterious health issues of his own.
“He had been seeing multiple doctors for issues with breathing, diarrhea and other symptoms,” she said. “No one could figure out what was the underlying issue for him either.”
His legs then started to swell up.
“It looked like he was standing on tree trunks,” she recalled.
As a result, he was referred to a cardiologist and underwent a battery of exams.
“After being transferred to another cardiologist about a year or so later, it was that second cardiologist that put the symptoms together,” Giselle said. “She ordered various tests, including a fat pad biopsy. It was then that he was diagnosed with hATTR amyloidosis.”
Fat pad aspiration is a relatively low cost and noninvasive method for obtaining tissue to diagnose systemic amyloidosis.
“When I heard of the diagnosis, I was in shock,” Giselle recalled.
Over time, her dad’s health continued to deteriorate and he ultimately passed away.
“Little did I know at that time, in my father’s demise, he was still saving my life,” she said. “After my father’s death, his cardiologist called me and insisted I get a genetic test done for hATTR amyloidosis. A couple of weeks later, the results came back positive. I can’t say I was surprised.”
With the help of her doctor she created a plan to better manage the condition.
“I was able to get diagnosed younger, I can fight this,” Giselle said. “After talking to others with this condition, it seemed like most people had gone more years than I had without truly knowing what was wrong. My dad saved me from all that.”
Through Bridge the Gap, she hopes to help those at risk of this complex condition identify red flag symptoms and receive the proper medical attention they need to reach an earlier diagnosis.
“My journey with hATTR amyloidosis has shown me that people need help,” she said. “So, I went back to school to become a certified health and wellness coach. Now, not only can I help people through my own experience, I can guide them through their own health challenges.”
How is hATTR amyloidosis passed down?
During the PALCUS webinar, Joanna Pearson, a senior patient education liaison at Alnylam Pharmaceuticals and registered nurse, said that although anyone can be at risk for this disease, it is more common for certain ethnicities, such as people of Portuguese, Brazilian, African, French, Irish, Japanese and Swedish descent.
She pointed out that many may not realize that the symptoms they are experiencing can be tied to their family health history.
“Each child of a parent with hATTR amyloidosis has a 50 percent chance of inheriting the TTR mutation,” said Pearson, who regularly provides in-depth education in-person or virtually about hATTR. “A family member may inherit the TTR genetic variant, but that does not necessarily mean they will develop hATTR amyloidosis.”
The age that symptoms of hATTR amyloidosis typically appear range from the mid-20s to the mid-60s.
“Because symptoms of hATTR amyloidosis can worsen over time, it’s important to talk to your doctor about them as soon as possible,” Pearson said.
She noted that hATTR amyloidosis can affect several parts of the body, namely the somatic nervous system (nerve damage leading to a range of symptoms, including loss of voluntary movement of the hands and feet, and loss of sensitivity to temperature); cardiovascular system (damage to the heart muscle, which can lead to shortness of breath, dizziness and leg swelling); and autonomic nervous system (affect bodily functions such as breathing, digestion and heart rate).
“The symptoms can vary widely among people with the condition and even within families. Different symptoms may appear at different times for each person,” Pearson said.
Carpal tunnel syndrome may be one of the first symptoms of hATTR amyloidosis, and it often affects both hands.
“A significant number of people have symptoms of carpal tunnel syndrome up to 10 years before they show other symptoms of hATTR amyloidosis,” Pearson pointed out.
Current treatment options are limited, but multiple potential therapies are emerging to help mitigate the underlying genetic mutation in patients. A liver transplant, removing the source of variant TTR, may be an option for some patients who meet certain eligibility criteria.
Pearson encouraged people to empower their families and take action by visiting a doctor, talking to a genetic counselor and considering a genetic test.
“Generic testing may help confirm a suspected genetic disease such as hATTR amyloidosis, determine a person’s chance of developing or passing down a condition, and shorten the time to diagnosis and prevent misdiagnosis,” she said.
For more information about hATTR amyloidosis and resources, visit hATTRBridge.com.
Lurdes C. da Silva may be reached at ldasilva@ojornal.com. To read more stories about the Portuguese-speaking community in English and Portuguese, please visit ojornal.com.
This article originally appeared on The Herald News: Taking action to manage a rare hereditary disease: hATTR Amyloidosis traced back to Portugal
