Focus Groups Highlight Need for Patient Input in Diagnosis, Treatment

Focus Groups Highlight Need for Patient Input in Diagnosis, Treatment
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In focus groups, transthyretin (ATTR) amyloidosis patients and families reported challenges and concerns related to the odyssey of getting a diagnosis, the effect of symptoms on quality of life, and the familial impact of the rare inherited disease.

The study, which included people with familial amyloid polyneuropathy (FAP) and ATTR with cardiomyopathy (ATTR-CM), concluded that increased physician education around the disorders, access to mental health support, and engagement with support and advocacy groups would help ease the disease’s burden and improve quality of life. 

The study, “Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups,” was published in the Orphanet Journal of Rare Diseases.

ATTR amyloidosis is a group of chronic, progressive disorders caused by abnormal deposits of the transthyretin protein in tissues. FAP — also called transthyretin amyloidosis with polyneuropathy (ATTR-PN) — results from protein deposits around peripheral nerves, while ATTR-CM results from deposits in cardiac tissue.

People with ATTR face many barriers to accurate diagnosis and appropriate treatment, at least in part due to a lack of qualitative studies and accounts of patient experience with the disorders.

To address this, researchers conducted two focus groups — one for ATTR-CM patients and family members in San Francisco and the other for FAP patients and their families in Buenos Aires, Argentina — with the goal of providing “new insights into the real-world experiences of those living directly and indirectly with ATTR.”

The FAP focus group included 10 patients and five family members. The ATTR-CM group included seven patients and three partners of people with the disorder.

In both groups, patients described lengthy diagnostic odysseys that included inaccurate and delayed diagnoses as well as inadequate or ineffective care. Some patients with familial histories of the disease were diagnosed earlier but others endured years of anxiety because they were forced to wait until adulthood to receive genetic testing.

“I asked to have the genetic test, but I was told I should wait until I was 18,” one FAP patient said. “At that time, I had to wait for years, I felt very anxious about it. I got my genetic test at [hospital] and it was positive.”

Patients with FAP and ATTR-CM reported a similar number of symptoms (24 vs. 26), though the type of symptoms varied. Fatigue, diarrhea and constipation, sensory deficits, and loss of muscle mass all were identified as the most difficult symptoms to cope with among people with FAP.

Both groups reported that ATTR was highly stressful for both the patients and their families, with those diagnosed with FAP describing dramatic changes in their ability to work and in their quality of life. Many expressed feeling stress related to the symptoms as well as to the impact of the disorder on their partners and families. Parents with FAP were particularly concerned about their children inheriting the disorder.

Still, family members, children, and partners were a continual source of motivation and support for patients living with the disorder. One patient with FAP said of her daughter who also has the disease, “I want to continue until there is a solution for her.”

Several family members of FAP patients participated in the focus group after having witnessed the misdiagnoses and inadequate care that their loved ones received. 

The researchers emphasized the importance of involving input from patients in clinical trials, diagnostic and genetic testing, and qualitative studies.

“The stories of the patients and family members living with the illness are an essential resource for understanding how best to respond to the illness and serve to help drug development sponsors remain focused on those aspects of the disease that are meaningful and important to those directly and indirectly impacted by ATTR,” they wrote.

The researchers said the use of the focus groups was helpful.

“Utilizing focus group reporting of lived patient and family experiences may also lead to better PROs and survey instruments that capture and represent the patient journey, as well as inform and educate healthcare professionals and the patient community,” they concluded.

Aisha Abdullah received a B.S. in biology from the University of Houston and a Ph.D. in neuroscience from Weill Cornell Medical College, where she studied the role of microRNA in embryonic and early postnatal brain development. Since finishing graduate school, she has worked as a science communicator making science accessible to broad audiences.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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Aisha Abdullah received a B.S. in biology from the University of Houston and a Ph.D. in neuroscience from Weill Cornell Medical College, where she studied the role of microRNA in embryonic and early postnatal brain development. Since finishing graduate school, she has worked as a science communicator making science accessible to broad audiences.
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