Depression, Anxiety Common With FAP, Patient Survey Finds
Challenges with mental health often follow a person being told that they carry a mutation that causes familial amyloid polyneuropathy (FAP), a rare and progressive disease of adulthood, a study reports.
“These results highlight the burden of [FAP] for patients and their relatives. Patients, carriers and their relatives and caregivers face challenges beyond medical issues,” its researchers wrote.
The study, “Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden,” was published in the Orphanet Journal of Rare Diseases.
FAP is caused by inheritable mutations in the TTR gene, resulting in the buildup of harmful protein deposits made up of misfolded transthyretin. The disease tends to affect mainly peripheral nerves — those found outside the brain and spinal cord — although its symptoms, onset, and severity vary by geographical location and a person’s particular mutation.
More than 130 TTR mutations have been identified to date, with some leading to severe disease while others are associated with mild or no symptoms.
A team of researchers in Spain surveyed people with FAP living on the island of Majorca, a place where the disease is endemic, or regularly found.
In total, their survey study included 34 FAP patients, as well as 27 asymptomatic carriers — people with a FAP-causing mutation, but no overt disease symptoms. Of note, not all respondents answered all of the up to 51 questions in the survey.
The study’s goal “was to describe the psychosocial burden associated with [FAP] in terms of personal, social and familial aspects.”
More than 1 in 4 survey respondents reported psychological or psychiatric problems — most commonly depression and/or anxiety — related to a FAP diagnosis or the identification of a disease-causing mutation. Of those with these mental health challenges, 60% sought professional help from a psychologist or psychiatrist, and 50% were treated with anti-depressants or other psychiatric medications.
“Fear and uncertainty are common at disease diagnosis and mutation identification,” the researchers wrote, noting a need for better psychological and social support to help individuals manage the stress caused by these events.
About a third (33.9%) of participants reported that FAP had affected their studies or work plans, while 16.4% said it had an impact on their friendships, and 29.8% noted the disease had affected them financially.
Nearly a quarter (24.1%) of participants said that FAP had affected their own family planning. Some of these people elected to have biological children after a preimplantation genetic diagnosis, while others chose not to have biological children.
Preimplantation genetic diagnosis is a procedure that allows an embryo to be tested for a disease-causing mutation before implantation takes place in the womb and a pregnancy starts.
Another noteworthy survey finding was that some respondents misunderstood their own health status. For example, over half of asymptomatic carriers believed they had polyneuropathy (peripheral nerve damage), even though polyneuropathy is itself a symptom, so these asymptomatic carriers did not have it by definition.
“Although they [survey respondents] had already had contact with this rare disease, there was confusion regarding the conditions of patients and carriers,” the researchers wrote.
“To avoid the stress produced by the lack of information, health education programmes should be introduced and programmes should be created by joint forces between clinicians and patient advocacy groups,” they wrote.
Nearly all survey respondents reported high satisfaction with their disease-related care. According to researchers, this shows “that patients value the existence of a medical team dedicated to this rare disease.”
A similar survey was also administered to 24 relatives and/or caregivers of people with FAP, most of whom were a patient’s partner. Caregivers were asked to rate the extent to which their loved one’s symptoms affected their own lives.
Symptoms rated as especially burdensome by caregivers included erectile dysfunction, fatigue, dizziness, and loss of balance. These are largely autonomic symptoms, meaning they are related to bodily processes outside of conscious control.
“This indicates the importance of including autonomic symptoms and quality of life questionnaires in treatment objectives in clinical practice and clinical trials,” the team wrote.
Noted study limitations included the fact that it was conducted at a single location where FAP is endemic, implying that its findings may not reflect the experiences of patients living elsewhere. The survey was also only completed by people who were able to write or type, and to attend patient meetings or hospital consultations where the survey was administered.
“Accordingly, patients with a major disability are probably underrepresented in this study,” the scientists wrote.