Product information and disease description Place of product in therapy Disease description Burden of Erythropoietic protoporphyria or X-linked protoporphyria

Humanistic burden and health-related quality of life

7 evidence topics · 9 sources

Tolerated sunlight exposure before symptom onset

“Severity is variable, but most patients can only tolerate <30 minutes of sun exposure.” (opens the source at this quote in a new tab)

“Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively.” (opens the source at this quote in a new tab)

“Before treatment, the PBTT was median 10 min (IQR 5-20). Under treatment, PBTT increased to median 180 min (IQR 120-240). Individual PBPF increased 1.8- to 180-fold (full range, median 15).” (opens the source at this quote in a new tab)

Interference with daily activities, school, and work

“Prodromal (early warning) symptoms after sunlight exposure, reported by > 50% of participants, included tingling, warmth, itching, sensitivity to touch, and burning; symptoms occurred in ≤ 10 min in 48.8% of adults and 15.2% of adolescents. Symptoms hindered daily activities at least "somewhat" for 62.8% of adults and 87.9% of adolescents, and 23.4% - 41.7% reported school/work absenteeism in past month; 67.1% of adults and 87.9% of adolescents experienced ≥ 1 phototoxic reaction in the previous 12 months” (opens the source at this quote in a new tab)
“Fifty-four percent (53.7%; adults) and 16.7% (adolescents) reported work productivity was affected by their EPP at least "a little bit” (opens the source at this quote in a new tab)

Emotional and psychological effects

“Most adults and adolescents reported feeling depressed (75.0%, 45.5%), anxious (79.9%, 60.6%), isolated (82.9%, 57.6%), frustrated (90.2%, 93.9%), and lonely (75.6%, 39.4%).” (opens the source at this quote in a new tab)

“The HADS was completed by 103 patients (95 EPP, 8 XLP), and mean scores for anxiety and depression were within the normal range (Table 3 ); however, 20% (21/103) of patients had borderline or abnormal anxiety levels, and 9.7% (10/103) had borderline or abnormal depression levels.” (opens the source at this quote in a new tab)

“Anxiety and depression due to disease-related symptoms have been reported. However, the rates of these conditions in adults are similar to the general population.” (opens the source at this quote in a new tab)

Employment and social functioning

“The educational level of EPP patients seemed higher compared to the Dutch population (36% vs. 30% high-education, 42% vs. 37% middle-education). At baseline 5% of the EPP patients were unemployed, none were unemployed during afamelanotide treatment.” (opens the source at this quote in a new tab)
“EPP patients scored low on the social functioning domain (SF-36) compared to the Dutch population (74.4 ± 27.3 vs. 84.0 ± 22.4; respectively), and improved during afamelanotide treatment (84.3 ± 20.9, p = 0.001). EPP has a significant negative impact on social aspects, with less employment despite a higher education level.” (opens the source at this quote in a new tab)

Performance of quality-of-life instruments in this disease

“Impaired QoL is an important consequence of EPP/XLP. PROMIS-57 was most sensitive in evaluating impaired QoL in EPP/XLP. Further research is needed to compare the effectiveness of it for assessing response to treatment.” (opens the source at this quote in a new tab)
“The percentage of scores indicating >1 SD of impairment, which can be considered clinically significant, are shown in Table 2 ; notably 21.8% (42/193) of patients have clinically significant pain interference.” (opens the source at this quote in a new tab)

“QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14.0, n = 176; mean CDLQI score 12.8, n = 44), indicating a large effect on patients' lives.” (opens the source at this quote in a new tab)

“The 3 factors from the EPIQ demonstrated acceptable to strong psychometric properties in terms of reliability (internal consistency, test-retest), validity (construct, known groups), and responsiveness. Ranges for meaningful change, using anchor- and distribution-based approaches, were established.” (opens the source at this quote in a new tab)

Adaptation confounds measurement of quality of life

“Patients with EPP are highly adapted to their condition which makes the quantification of their health-related quality of life (QoL) challenging.” (opens the source at this quote in a new tab)
“QoL under treatment was comparable to the age-matched population norm, and retrospective results for a treatment interruption and phototoxic reaction time point were comparable to the QoL of patients with chronic neuropathic pain and acute burn injuries, respectively.” (opens the source at this quote in a new tab)

Quality of life in children

“Children with EPP exhibited lower median scores in the PedsQL in both physical (cases: 87.5 (interquartile range [IQR] 77.7-96.1), controls: 99.2 [IQR 94.9-100.0], p = 0.03) and social (cases: 77.5 [IQR 69.4-86.3], controls: 97.5 [IQR 78.8-100.0], p = 0.04) domains compared to healthy children” (opens the source at this quote in a new tab)
“In conclusion, children with EPP experience a reduced QoL compared to both healthy children and adults with EPP. Ensuring treatment availability for this patient group is crucial for improving their QoL.” (opens the source at this quote in a new tab)