by Matt Batcheldor
Charlotte Haffner, who was VUMC’s first patient to undergo a heart transplant followed by a stem cell transplant to treat primary AL amyloidosis, was recently recognized by Williamson County Mayor Rogers Anderson and Franklin Mayor Ken Moore.
The mayors declared March Amyloidosis Awareness Month.
Primary AL amyloidosis is a plasma cell disorder that originates in the bone marrow and results when amyloid protein builds up in one or more organs, causing them to malfunction. It is a rare disease with only about 4,500 new cases diagnosed each year in the United States.
Haffner was active and healthy when she began to experience shortness of breath, fatigue and swelling in 2008. She was diagnosed with amyloidosis at Vanderbilt and underwent a heart transplant later that year, followed by a stem cell transplant in 2009.
Since, Haffner has dedicated her life to promoting awareness of the disease. She formed a support group for other amyloidosis patients and helped create the Vanderbilt Amyloid Multidisciplinary Program (VAMP) to advance the understanding, treatment and research of amyloidosis. She was elected to the board of directors of the Amyliodosis Foundation in 2014.
“I have attended numerous medical conferences to educate physicians in all the disciplines that amyloidosis affects,” she said. “My goal is to help amyloid patients navigate the system and get the right physician for their disease. It is very important to get in a system that can treat all aspects of this disease.”
Primary AL amyloidosis patients may experience the buildup of amyloid proteins in the kidney, liver, spleen, heart and bone marrow. Many such patients are first diagnosed by a cardiologist because they present with symptoms of heart failure.
For treatment, patients often undergo chemotherapy, and may receive a bone marrow transplant to help control the disease and ultimately rid the body of amyloid deposits and help improve the function of affected organs.
Muhamed Baljevic, MD, director of the VAMP and Plasma Cell Disorders Research programs, said early detection is important.
“It can be easily missed by medical providers, and raising awareness about this deadly disease in the community at large can help more patients achieve timely diagnosis, and better disease outcomes through treatment, including longer and better quality of life,” said Baljevic, assistant professor of Medicine.
