Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide.

Wensink D, Wagenmakers MAEM, Wilson JHP, Langendonk JG

The Journal of dermatology28 Dec 2022Cited by 11 (Europe PMC)

PMID36579412DOI10.1111/1346-8138.16690PepBankPUB-36579412

Publisher page PubMedAsk about this study

Summary

Erythropoietic protoporphyria (EPP) patients experience severe burning pain after light exposure, which results in a markedly reduced quality of life. However, there is limited information on the psychosocial aspects of EPP. To investigate the clinical features and social aspects of living with EPP, before and during afamelanotide treatment in the Netherlands. A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam. Patients completed questionnaires, comprising demographic, clinical and social details, including two generic (DS-14 and SF-36) and a disease specific (EPP-QoL) QoL questionnaires. 121 adult EPP patients were included. 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. Full- and part-time employment rate increased from 59.5% to 69.9% on afamelanotide treatment (p > 0.05). EPP-QoL improved from 44% to 75% on afamelanotide treatment (p < 0.001). Type-D personality was present in 27.4% of patients; their social inhibition scores improved significantly on afamelanotide treatment (p = 0.019). 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. Afamelanotide treatment improves quality of life, social functioning and possibly employment rate. It is important to recognize the impact of EPP on social life, although, more research is needed.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study5

5 results from studies that gave the peptide. 5 results from people.

01HumanObservational studyEfficacy outcome
In adults with EPP, the full- and part-time employment rate rose from 59.5% to 69.9% on afamelanotide treatment, not statistically significant.
In plain wordsIn adults with EPP, the employment rate was higher on afamelanotide, but the change was not statistically significant.
Peptide
Melanotan I (afamelanotide)
Outcome
No significant changeFull- and part-time employment rate
Study
n: not reported in source
Comparator
Before afamelanotide treatment
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Measurements
Employment rate
59.5%
baseline
Employment rate
69.9%
on afamelanotide
Source sentences
Summary
Full- and part-time employment rate increased from 59.5% to 69.9% on afamelanotide treatment (p > 0.05).
2 context sentences(design, population, supporting numbers)
Summary · context
A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam.
Summary · context
121 adult EPP patients were included.
Show in the study text Report a problemFND-3657941201
02HumanObservational studyEfficacy outcome
In adults with EPP, 5% were unemployed at baseline and none were unemployed during afamelanotide treatment.
In plain wordsIn adults with EPP, nobody was unemployed during afamelanotide treatment, compared with 5% before treatment.
Peptide
Melanotan I (afamelanotide)
Outcome
DecreaseUnemployment
Study
n: not reported in source
Comparator
Before afamelanotide treatment
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Measurements
Unemployment
5%
baseline
Source sentences
Summary
At baseline 5% of the EPP patients were unemployed, none were unemployed during afamelanotide treatment.
2 context sentences(design, population, supporting numbers)
Summary · context
A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam.
Summary · context
121 adult EPP patients were included.
Show in the study text Report a problemFND-3657941202
03HumanObservational studyEfficacy outcome
In adults with EPP, the disease-specific EPP-QoL score improved from 44% to 75% on afamelanotide treatment.
In plain wordsIn adults with EPP, disease-specific quality of life improved on afamelanotide compared with before treatment.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreaseEPP-QoL score
Study
n: not reported in source
Comparator
Before afamelanotide treatment
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Measurements
EPP-QoL
44%
baseline
EPP-QoL
75%
on afamelanotide
Source sentences
Summary
EPP-QoL improved from 44% to 75% on afamelanotide treatment (p < 0.001).
2 context sentences(design, population, supporting numbers)
Summary · context
A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam.
Summary · context
121 adult EPP patients were included.
Show in the study text Report a problemFND-3657941203
04HumanObservational studyEfficacy outcome
In adults with EPP and Type-D personality, social inhibition scores improved significantly on afamelanotide treatment.
In plain wordsIn adults with EPP and Type-D personality, social inhibition scores improved on afamelanotide compared with before treatment.
Peptide
Melanotan I (afamelanotide)
Outcome
Not applicableSocial inhibition score in Type-D personality patients
Study
n: not reported in source
Comparator
Before afamelanotide treatment
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Source sentences
Summary
Type-D personality was present in 27.4% of patients; their social inhibition scores improved significantly on afamelanotide treatment (p = 0.019).
2 context sentences(design, population, supporting numbers)
Summary · context
A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam.
Summary · context
121 adult EPP patients were included.
Show in the study text Report a problemFND-3657941204
05HumanObservational studyEfficacy outcome
In adults with EPP, the SF-36 social functioning score improved during afamelanotide treatment (84.3 after treatment, baseline 74.4).
In plain wordsIn adults with EPP, social functioning scores improved during afamelanotide treatment compared with before treatment.
Peptide
Melanotan I (afamelanotide)
Outcome
IncreaseSF-36 social functioning domain
Study
n: not reported in source
Comparator
Before afamelanotide treatment
Outcome group
Quality of life · Whole body
Studied dose
Dose not stated
Measurements
SF-36 social functioning
74.4
baseline
SF-36 social functioning
84.3
on afamelanotide
Source sentences
Summary
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).
2 context sentences(design, population, supporting numbers)
Summary · context
A single-center prospective longitudinal study of adult patients with EPP attending the Erasmus MC Rotterdam.
Summary · context
121 adult EPP patients were included.
Show in the study text Report a problemFND-3657941205

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

Version 2Current
13 Oct 2026, 21:44 UTC
Study results updated
Version 1
13 Oct 2026, 16:31 UTC
First added · source update from Europe PMC

Subjects

Terms as the source lists them.

Publication types

Journal Article

MeSH terms

Keywords

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