To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Inborn errors of metabolism
- Epidermal and dermal conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The primary study variables are:
- The amount of protoporphyrin, the activity of the enzyme ferrochelatase,
the liver functions and the score of the quality of life
questionnaire show
the gravity of the symptoms of EPP
- The presence or not of a low amount of hemoglobin
- The presence or not of iron deficiency
Secondary outcome
n.a.
Background summary
There is much difference in severity of symptoms of patients with
erythropoietic protoporphyria (EPP). There have been various studies to find
the cause for this difference. The difference in severity might be partly
explained by the presence or not of a low amount of hemoglobin. Recent research
has been performed to investigate the role of iron in EPP. An important
observation is that part of the patients with EPP has iron deficiency, which
might cause the anemia.
If actually can be confirmed that an iron deficiency is the base of anemia in
patients with EPP, these patients can be given iron suppletion, which can
reduce the severity of symptoms.
Study objective
To investigate the prevalence of anemia in EPP patients, related to the
severity of symptoms and to investigate the cause of this anemia.
Study design
Blood (via venapunction) will be investigated for a possible anemia, a possible
iron deficiency, the amount of protoporphyrin and liver function. Patients with
anemia and iron deficiency will be given low doses of iron after consideration
with the general practitioner. After 3 months they will be examined again to
investigate any effects.
Furthermore the investigators will notice the severity of the symptoms with a
quality of life questionnaire. Also information about food, medication, alcohol
use and smoking will be collected.
Study burden and risks
The only disadvantage which can be the consequence of this study, is that as
result of the venapunction the patients can get an haematoma.
' s Gravendijkwal 230
3015 CE Rotterdam
Nederland
' s Gravendijkwal 230
3015 CE Rotterdam
Nederland
Listed location countries
Age
Inclusion criteria
- Known diagnosis of erythropoietic protoporphyria
- age = 18 years or older
Exclusion criteria
none
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
Register | ID |
---|---|
CCMO | NL18022.078.07 |