Longer delay in diagnosis negatively impacts EPP patients’ lives: Study
People with disorder are particularly affected at the emotional level
A longer delay in the diagnosis of erythropoietic protoporphyria (EPP) is associated with a negative impact on patients’ lives, particularly at the emotional level, according to a recent study in the U.S.
However, the severity of EPP-related light sensitivity was not significantly associated with the length of diagnostic delay or its impact on patients’ lives, as indicated by self-reported data. Most commonly, people with EPP reported they felt isolated and misunderstood, and that they were missing personal goals due to their condition.
“The data suggest that increased EPP-related emotional issues may be part of the impact of a delay in diagnosis,” researchers wrote. “Because of the negative impact of a delay in diagnosis on EPP patients’ lives, efforts to increase physician awareness about EPP and decrease the barriers to appropriate diagnostic testing are imperative.”
The study, “Impact of delay in diagnosis in patients with erythropoietic protoporphyria, a cross-sectional survey study,” was published in JAAD International.
No significant link between degree of light sensitivity, length of delay
EPP is a form of porphyria, a group of disorders characterized by a disruption in the production of heme, a molecule needed for oxygen transport in red blood cells. It is caused by mutations in the FECH gene that lead to a deficiency in ferrochelatase, an enzyme needed in the last step of heme production. This results in an increase in levels of a heme precursor called protoporphyrin.
The condition is marked by excessive skin sensitivity to sunlight, resulting in painful skin lesions on exposed skin areas that negatively impact patients’ quality of life.
In this study, a team led by researchers from Massachusetts General Hospital in Boston conducted an online survey to analyze associations between clinical and psychosocial features and delays in EPP diagnosis.
A total of 35 people with EPP completed the survey, which included open- and closed-ended questions. Their median age was 38 years and they ranged in age from 15 to 64. Most (60%) were females.
The median delay between symptom onset to diagnosis was four years, with a range of 0 to 36 years. About 80% of patients were diagnosed at least one year after the first symptom appeared.
These participants answered a question about the impact of a delayed diagnosis on their lives. Results showed a longer diagnosis delay was significantly associated with higher self-reported impact of the delay on a person’s life. Moreover, a higher self-reported impact of delay was significantly linked to more EPP-related emotional disturbances.
There was no significant association between the degree of light sensitivity, either self-reported or a quantitative measurement of light exposure, and the length of diagnostic delay or the impact of the delay on patients’ lives.
“The absence of correlations with the degree of light sensitivity indicates even severe patients are being missed by [health care] providers and even less symptomatic patients experience a negative impact on quality of life from a delay in diagnosis,” the researchers wrote.
‘I wish people could understand the amount of pain [I] go through’
Most participants reported feeling isolated and misunderstood (64.7% each), as well as having a sense of missing personal goals and activities (73.5%). One patient said they were “missing out on life … on being able to do fun outdoor stuff with friends and family … especially my own children. They understand but those are times/things I can never get back.”
Regarding others’ perceptions, 38.2% of the respondents said others assume they are lying about their condition, and 23.5% reported feeling weird or unaccepted and/or having low self-esteem.
“I wish people could understand the amount of pain [I] go through. They always see me and think I’m overreacting. Or they don’t believe me,” a study participant said.
Anxiety was reported by more than a third (35.3%) of participants and depression by 11.8%. “There is real anxiety about going to events or places where there is a lot of sun,” one participant said.
“I think I struggle a ton to respect and love myself, because EPP has made me feel different and inferior … for nearly my entire life,” another participant said.
Some patients also reported childhood trauma (11.8%) and substance use as a coping mechanism (8.8%).  One respondent reported that “not being able to socialize when I was younger … led to underage drinking at my house, which led to a lifetime of alcoholism.”
Overall, these findings showed that “a longer delay in EPP diagnosis is associated with a negative impact on patients’ lives, which deserves more exact study and validation,” the researchers wrote.
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