Porphyria
Conditions
Interventions
EPP patient:N/A
Healthy Control :N/A
Sponsors
No. 900 Hospital of the Joint Logistic Support Force, People's Liberation Army of China
Eligibility
Sex/Gender
All
Age
15 Years to 75 Years
Inclusion criteria
Inclusion criteria: Inclusion Criteria for the EPP Patient Group 1.Clinically confirmed diagnosis of EPP: Genetic sequencing reveals ferrochelatase (FECH) gene abnormalities; erythrocyte protoporphyrin levels are significantly elevated, 3–4 times higher than the normal reference value (< 80 µg/dL red blood cells). 2.Aged 18–75 years, with no gender restrictions. 3.Voluntarily sign the informed consent form and be able to cooperate with follow-up visits and relevant examinations. 4.No contraindications to red blood cell exchange transfusion, including severe coagulation disorders, severe anemia (hemoglobin < 80 g/L), hypersensitivity to blood products, and uncontrolled severe infections. Inclusion Criteria for the Healthy Control Group 1.No history of chronic diseases, including but not limited to cardiovascular diseases, liver diseases, hematological disorders, and porphyrias. 2.Erythrocyte protoporphyrin level < 80 µg/dL red blood cells. 3.Aged 18–75 years, with gender and age distribution matched to the EPP patient group. 4.Voluntarily sign the informed consent form. 5.Healthy blood samples from the hospital biobank are excluded. Given that free erythrocyte protoporphyrin is photolabile and susceptible to degradation over time, stored blood samples cannot guarantee the accuracy of test results. To ensure the reliability of research data, only fresh blood samples are collected.
Exclusion criteria
Exclusion criteria: Exclusion Criteria for the EPP Patient Group: 1.Complicated by cardiac, renal, cerebral or other severe organ failure: 2.Has contraindications to red blood cell exchange transfusion; 3.Pregnant or lactating women; 4.Those with acute episode complicated by severe infection and altered consciousness; 5. Those who refuse to cooperate with the collection of fresh peripheral blood and blood tests. Exclusion Criteria for the Healthy Control Group: 1.Meeting criteria 1–4of the exclusion criteria for the EPP patient group. 2.Having a family history of porphyria or relatives diagnosed with EPP. 3.Having a history of major surgery, blood transfusion, or administration of drugs that may affect porphyrin metabolism (e.g., certain antibiotics, antiepileptic drugs) within the recent 3 months. 4.Those who refuse to cooperate with fresh peripheral blood collection and blood tests.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Free Erythrocyte Protoporphyrin; | — |
Countries
China
Contacts
Public ContactDongliang Li
No. 900 Hospital of the Joint Logistic Support Force, People's Liberation Army of China
Outcome results
None listed