BOSTON, April 22, 2020 /PRNewswire/ -- New research shows patients with von Hippel-Lindau (VHL) disease, a genetic oncological disorder, are experiencing delay and cancellation of important appointments and even surgery due to the COVID-19 public health crisis. For many people with rare diseases, these effects may be life-changing, particularly for otherwise young and healthy patients who may face irreversible damage as a result of delayed treatment.
VHL, or von Hippel-Lindau disease, is a genetic disorder characterized by tumors in up to ten areas of the body. Under normal conditions, the VHL gene controls the cell's oxygen sensing mechanism, keeping cancerous tumors at bay. When the gene is missing or mutated, the body's tumor suppressor signaling does not function correctly. The tumors can be benign or cancerous, and appear and grow unpredictably throughout a patient's life.
There is currently no cure. Von Hippel-Lindau disease is managed through regular surveillance and testing to monitor tumor growth, and surgical intervention when absolutely necessary. Renal and pancreatic neuroendocrine cancers, paralysis, loss of vision and hearing, are among the dangers faced by VHL patients.
In a recent national survey of VHL patients, nearly half (48%) reported important, scheduled appointments, including surgery, had been recently cancelled or rescheduled. Of these people, more than half (58%) indicated that the change was due to the COVID-19 public health crisis.
Respondents also emphasized the combination of COVID-19 and postponement of medical appointments and surgery has greatly increased their stress, anxiety, and depression. People living with VHL and their caregivers are very aware that tumors can appear and grow quickly at any time.
"VHL patients face not one single disease, but the possibility of any one or more of a myriad of tumor-driven issues in different parts of their body. Symptoms can be very subtle, and physicians generally encourage a 'watchful waiting' approach – through regular visits and screenings – to minimize the number of surgeries a patient may face over a lifetime," said Ilene Sussman, PhD, executive director of the Boston-based VHL Alliance. "Without regular surveillance, the watch-and-wait can backfire if a tumor metastasizes or causes irreversible damage, such as vision or hearing loss or paralysis."
More than one respondent indicated important surgeries were postponed, due to the additional safety measures and the possibility of post-operative quarantine requiring excessive time away from work. Another, California-based patient noted their medical records, including recent MRI scans, were lost amidst the COVID-19 crisis, and their physicians, even those not involved in COVID-19 treatment, were not responding to calls.
One Michigan patient, a young mother who has already lost the hearing in one ear due to a VHL-caused endolymphatic sac tumor (ELST), faces the threat of total hearing loss. "I was scheduled for surgery to remove an ELST in my other ear. The hospital system believes I can afford to put off the surgery for several more weeks, but I worry if it is postponed beyond that and my tumor continues to grow, I may never hear my children's voices again."
For information about the VHL Alliance, please visit vhl.org.
VHL or von Hippel-Lindau disease is a genetic form of cancer. VHL patients battle a series of tumors throughout their lives. The VHL gene controls the major feeding pipeline of every tumor. Curing VHL is one step closer to curing many other forms of cancer.
About the VHL Alliance
The VHL Alliance (VHLA) is the preeminent resource and clearinghouse for those affected by von Hippel-Lindau disease, including patients, caregivers, researchers, and the medical community. VHLA is a 501(c)(3) non-profit organization founded in 1993, which is dedicated to research, education, and support to improve awareness, diagnosis, treatment, and quality of life for those affected by VHL. VHLA is the leading funder of VHL research, funding over $2.3 million in grants to support studies designed to find a cure. The VHL Alliance's vision is Curing Cancer through VHL.
Contact: Heidi Leone
1.617.277.5667 | [email protected]
SOURCE VHL Alliance