Proteinopathies are a group of disorders that causes neurodegeneration and are associated with misfolded protein deposits that are believed to overwhelm the cell. In amyloidosis, the culprit protein is known as amyloid, which deposits as fibrils in the nervous system and organs like the heart. In recent years, several drugs that target the production and build-up of amyloid proteins and have been a game changer in treating hereditary transthyretin (TTR) amyloidosis, a rare inherited form of the disease.
Dr. Alejandra Gonzalez Duarte was a former fellow at the Dysautonomia Center who trained in diagnosing and managing patients with autonomic disorders. After returning to Mexico City, she set up a busy autonomic clinic taking care of a large cluster of patients with TTR amyloidosis. She partnered with Dr. Kaufmann and Dr. Palma to put together a special issue for the journal Clinical Autonomic Research on TTR amyloidosis. The issue features updates on the diagnosis and treatment of patients with TTR amyloidosis, who frequently suffer from severe failure of the autonomic nervous system.
Most doctors rarely encounter patients with TTR amyloidosis owing to the rarity of the disease. Dr. Gonzalez Duarte has followed families impacted by the disease sometimes for several generations. In December 2019, she organized a preceptorship in Mexico City course aimed at teaching physicians in Central and South America about TTR amyloidosis. She invited Dr. Lucy Norcliffe-Kaufmann to speak about autonomic testing.
Autonomic Dysfunction in Amyloidosis
Autonomic problems are a major issue for many patients with TTR amyloidosis. They can have intense bouts of diarrhea that leave them volume depleted causing low blood pressure on standing. Others have amyloid deposits in the myocardium that result in heart failure. Both of these problems can produce in orthostatic hypotension. But when no apparent cause is found, neurologists often suspect that the autonomic nerves themselves have become injured by the amyloid deposits.
When it comes to trying to find the cause of orthostatic hypotension in patients with TTR amyloidosis, autonomic function tests are very useful. The goal it to determine whether the blood pressure is failing because the patient has severe fluid loss, heart failure, or a primary problem with the nerves. Assessing autonomic function in patients with amyloidosis involves testing the reflexes as well as assessing intravascular volume status. Sometimes it is the perfect storm of all these factors combined. The amyloidosis preceptorship covered the basic set of tests required to work up a patient with suspected autonomic involvement.
Dysautonomia research without borders
The continued connection between Dr. Gonzalez Duarte and the research team at the Center is an example of how our fellowship training program expands our expertise to different countries. When our graduates from the NYU Autonomic Disorders Fellowship Program go on to run their own clinics, produce high quality research, and continue the task of educating other doctors, we couldn’t be prouder, explained Dr. Kaufmann. The more people learn about autonomic dysfunction in rare diseases like amyloidosis, the greater the chance we have of diagnosing and treating it. The review article in Clinical Autonomic Research covers the management of orthostatic hypotension in patients with TTR amyloidosis.
Read the article here: https://www.ncbi.nlm.nih.gov/pubmed/31452021
learn about our Fellowship program: https://med.nyu.edu/departments-institutes/neurology/education/fellowships/autonomic-disorders