Aug. 06, 2024
Amyloidosis is a complex disease with multiple symptoms that may not appear to fit into a neat diagnostic box. Patients usually present with a constellation of cardiac, neurological or musculoskeletal symptoms at different points in their lives, making the disease difficult to pinpoint. This cascade of symptoms occurs because a protein misfolds, converts into amyloidosis fibrils and deposits in tissues. Over time, this amyloid structure affects the normal function of several organs.
"Amyloidosis was considered a rare, fatal disease without options for therapy. That is not true anymore," says Jose N. Nativi Nicolau, M.D., a transplant cardiologist at Mayo Clinic's campus in Florida. "Ten years ago, there was no hope, but that changed too. We now have medications that prevent the progression of the disease — and patients are living longer," says Dr. Nativi Nicolau.
Dr. Nativi Nicolau is part of an international group of investigators dedicated to developing therapies to treat amyloidosis. He also served as a member of the American Heart Association and the American College of Cardiology writing committees that developed the first amyloidosis diagnostic algorithms and scientific guidelines, answering questions such as the steps and tools for amyloidosis screening.
Amyloidosis requires a multidisciplinary approach
Dr. Nativi Nicolau studied amyloidosis during his advanced heart failure fellowship at Mayo Clinic's Minnesota campus. He indicates that Mayo Clinic is among the few multidisciplinary centers worldwide dedicated to amyloidosis. Numerous patients with amyloidosis have come to Mayo Clinic over the years, even at a time when no therapies existed, providing a platform to study the disease and therapeutic options.
Mayo Clinic initiated the Multidisciplinary Amyloidosis Clinic, a group of providers dedicated to the diagnosis and treatment of the disease. The collaborative practice encompasses hematologists, cardiologists, neurologists, nephrologists, pathologists, radiologists and geneticists, among others. In this clinic, multiple specialists see a patient in the same exam room on the same day, expediting the process of finding answers and making the visit seamless for the patient.
The Multidisciplinary Amyloidosis Clinic's goals include providing:
- Earlier diagnosis. The clinic aims to provide rapid yet accurate diagnoses for patients, knowing that earlier diagnoses lead to better therapeutic responses. Using a comprehensive battery of tests, the amyloidosis group meets and analyzes results to identify the condition and formulate a treatment plan.
- Comprehensive evaluation. Beyond diagnosis, the clinic provides information on how the disease affects each individual in particular, because amyloidosis affects multiple organs.
- Patient-centered care. Per Dr. Nativi Nicolau, the clinic seeks more than a diagnosis and a prescription for its patients, as amyloidosis is not that simple. Consequently, it offers treatment of the amyloid itself and options for the organs affected, including transplantation. Other advances, including novel imaging techniques such as bone scintigraphy, allow for early diagnosis without biopsy.
- Access to clinical trials. Mayo Clinic collaborates with international investigators to study the efficacy and safety of novel therapeutic agents to improve the survival and quality of life of patients with amyloidosis. These therapeutics are offered to patients who are looking for novel agents that could further improve their condition.
心肌中的淀粉样纤维
当蛋白质转化成淀粉样变性纤维并沉积在心肌组织中时，即发生心脏淀粉样变性。随着时间的推移，这种积聚可能会导致多个器官无法正常工作。
【本动画展示心肌中沉积的淀粉样纤维。本动画无声播放。】
When amyloidosis dictates transplant
Because all amyloidosis is progressive, some patients develop end-stage heart, kidney or liver failure that could benefit from solid organ transplantation. Thus, ideal treatment involves a multidisciplinary group that brings all options to the table, including transplantation.
While medications benefit patients with early-stage amyloidosis, there are no medications for patients at advanced stages. However, Dr. Nativi Nicolau indicates that today, transplantation may be an option for these patients.
"Years ago, patients with amyloidosis treated with transplantation did not survive long because of recurrence of the disease," he says. "Transplant was contraindicated for these patients, but that is no longer the case. With advances in diagnostics and therapeutics, now we can transplant select patients successfully, improving both quality and length of life."
In amyloidosis cases with multiple affected organs, Mayo Clinic in Florida, a leading solid organ transplant center, can provide liver or kidney transplants along with heart transplantation.
When to refer for amyloidosis
Dr. Nativi Nicolau says physicians should consider contacting Mayo Clinic "as soon as they think about amyloidosis."
The common symptoms in patients with cardiac amyloidosis include:
- Heart failure and carpal tunnel syndrome.
- Heart failure and spinal stenosis.
- Heart failure and progressive neuropathy.
Dr. Nativi Nicolau and his colleagues respond to referring physicians inquiring about patients by sharing Mayo's amyloidosis diagnostic algorithm and offering to partner based on the patients' needs. Some health care providers call when they identify a patient with symptoms, others when a pyrophosphate scan result is abnormal, and others when a biopsy or genetic testing is needed.
After referral, the Multidisciplinary Amyloidosis Clinic nurse coordinator organizes the patient's upcoming visit. This multidisciplinary clinic has the tools to provide an accurate diagnosis and start therapies as soon as possible. The evaluation includes determining eligibility for clinical studies, assessment of organ failure and establishing candidacy for transplantation.
Dr. Nativi Nicolau stresses early diagnosis and rapid therapy for amyloidosis. In particular, patients with light chain amyloidosis may die within six months without treatment, which he indicates is poorer survival than that of advanced breast and colon cancers.
"If you see an echocardiogram or cardiac MRI result suggestive of amyloidosis, this is a medical emergency — you need to move fast," he says.
For more information
Refer a patient to Mayo Clinic.