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The British Journal of Dermatology Dec 2017Erythropoietic protoporphyria (EPP) is a rare metabolic disease with painful photosensitivity due to protoporphyrin IX accumulation. (Observational Study)
Observational Study
BACKGROUND
Erythropoietic protoporphyria (EPP) is a rare metabolic disease with painful photosensitivity due to protoporphyrin IX accumulation.
OBJECTIVES
To evaluate bone mineral density (BMD) and known osteoporosis risk factors in patients with EPP.
METHODS
Patients with EPP attending the Erasmus MC outpatient clinic who had undergone BMD measurements were included. Plasma 25 hydroxy (OH) vitamin D, alkaline phosphatase, parathyroid hormone and total protoporphyrin IX levels were measured; information on lifestyle, sunlight exposure and a bone-relevant physical exercise index [Bone Physical Activity Questionnaire (BPAQ) score] was obtained via questionnaires. BMD scores and the prevalence of osteopenia and osteoporosis in the EPP population were compared with a reference population.
RESULTS
Forty-four patients with EPP (23 female, 21 male; mean age 37·6 years) were included. The mean SDs of the T-scores were -1·12 for the lumbar spine and -0·82 for the femoral neck (both P < 0·001). Osteopenia was present in 36%; osteoporosis in 23%. Based on the reference population the expected prevalence was 15% and 1%, respectively. Prevalence of vitamin D deficiency was 50% (defined as a 25-OH vitamin D level < 50 nmol L ). Mean self-reported BPAQ score was 19·4 units (reference interval 19-24). Multiple linear regression analysis showed a significant influence of vitamin D deficiency and bone-relevant physical exercise score on BMD in patients with EPP.
CONCLUSIONS
The prevalence of osteoporosis and osteopenia is greatly increased in patients with EPP. Alkaline phosphatase (related to vitamin D deficiency) and amount of weight-bearing exercise are significantly correlated with low BMD in this population.
Topics: Adolescent; Adult; Aged; Bone Density; Bone Density Conservation Agents; Cross-Sectional Studies; Female; Humans; Male; Middle Aged; Osteoporosis; Osteoporotic Fractures; Protoporphyria, Erythropoietic; Protoporphyrins; Risk Assessment; Risk Factors; Vitamin D; Vitamin D Deficiency; Young Adult
PubMed: 28815553
DOI: 10.1111/bjd.15893 -
Acta Dermatovenerologica Alpina,... Sep 2007There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the... (Comparative Study)
Comparative Study
BACKGROUND
There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.
MATERIALS AND METHODS
The patients were selected by routine examination of photosensitive patients and by studying hospital records. A quantitative spectrophotometric method was used to assess protoporphyrin, with values larger than 530 nm/l considered elevated.
RESULTS
32 EPP patients were detected, which allows us to estimate the prevalence of EPP in Slovenia at 1.75 per 100,000 inhabitants.
Topics: Erythrocytes; Female; Humans; Male; Pedigree; Photosensitivity Disorders; Prevalence; Protoporphyria, Erythropoietic; Protoporphyrins; Skin; Slovenia; Spectrophotometry; Statistics, Nonparametric
PubMed: 17994169
DOI: No ID Found -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Nov 2023Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the gene, and it is inherited in an...
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of EPP complicated with thyrotoxicosis and liver dysfunction which is a rare condition. The patient's liver function improved after liver protection treatment, her thyroid function returned to normal, and her EPP symptoms improved significantly. Moreover, the c.286C>T gene mutation may be the pathogenic locus of EPP. For patients with abnormal liver function, the possibility of EPP should be considered after the common causes are excluded, and gene detection should be done to confirm the diagnosis in time. When EPP is associated with thyrotoxicosis and liver dysfunction, priority may be given to hepatoprotective therapy.
Topics: Humans; Child, Preschool; Female; Adult; Protoporphyria, Erythropoietic; Thyrotoxicosis; Liver Failure; Mutation
PubMed: 38432869
DOI: 10.11817/j.issn.1672-7347.2023.230242 -
International Journal of Dermatology Aug 2022
Topics: Algorithms; Comprehension; Ferrochelatase; Humans; Protoporphyria, Erythropoietic
PubMed: 34346061
DOI: 10.1111/ijd.15825 -
Pediatrics Apr 2018The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited...
The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous manifestations. Hepatobiliary disease affects the minority of individuals with EPP and usually manifests in patients with an established diagnosis of EPP. We report on a classic but rare case of EPP that masqueraded as cholestasis. An 8-year-old boy was referred to the Hepatology Clinic after an abrupt onset of jaundice with a longstanding history of dermatitis. The diagnosis of EPP was established with liver biopsy, which revealed dense, dark-brown pigment in hepatocytes and Kupffer cells that, on polarization, displayed bright-red birefringence and centrally located Maltese crosses. Plasma total porphyrins and erythrocyte protoporphyrin were elevated and confirmed a diagnosis of EPP. We hope to raise awareness of this diagnosis among pediatricians, hepatologists, and pathologists and increase the consideration of EPP in patients with cholestatic liver disease and chronic dermatitis.
Topics: Child; Cholagogues and Choleretics; Cholestasis; Cholestyramine Resin; Chronic Disease; Diagnosis, Differential; Humans; Male; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Provitamins; Pruritus; Ursodeoxycholic Acid; beta Carotene
PubMed: 29610169
DOI: 10.1542/peds.2016-1625 -
The British Journal of Dermatology Sep 2006
Topics: Dermatology; England; History, 20th Century; Humans; Mutation; Protoporphyria, Erythropoietic
PubMed: 16911273
DOI: 10.1111/j.1365-2133.2006.07471.x -
Transactions of the American Clinical... 2000In summary, FC gene mutations in patients with protoporphyric liver disease typically cause major structural alterations in the FC protein. However, the gene mutations... (Review)
Review
In summary, FC gene mutations in patients with protoporphyric liver disease typically cause major structural alterations in the FC protein. However, the gene mutations by themselves do not satisfactorily account for the severe phenotype, as the same mutations are found in asymptomatic family members, and similar mutations are found in patients who do not develop liver disease. Thus there may be unidentified factors in the FC gene locus, or factors outside the locus, which are also important in determining the degree of protoporphyrin accumulation that occurs in an individual patient, hence, the potential for developing significant liver disease. Further studies are needed to clarify this possibility and identify those factors.
Topics: Awards and Prizes; DNA Mutational Analysis; Female; Ferrochelatase; Humans; Male; Mutation; Pedigree; Porphyrias; Porphyrins; Protoporphyria, Erythropoietic; Societies, Medical; United States
PubMed: 10881344
DOI: No ID Found -
Immunologic Research Oct 2019Phototoxic reaction is a known feature of EPP at least in part triggered by the oxidative status, complement system activation, and mast cell response. The aim of this... (Clinical Trial)
Clinical Trial
Phototoxic reaction is a known feature of EPP at least in part triggered by the oxidative status, complement system activation, and mast cell response. The aim of this study was to verify some aspects involved in phototoxic reaction during a season. The complement system was evaluated by C3 assay, alternative pathway by factor-B, and classical pathway by C1q; oxidative status was tested with malondialdehyde (MDA) and mast cell by IL-10 assay. The serum samples were collected in winter and summer from 19 EPP patients and 13 controls. The reaction to sun exposure within each group was monitored without any invasive treatment. In summer, C3 and factor B were higher in patients than in controls (p = 0.002 and < 0.0001 respectively), while no change was detected for C1q. The oxidative stress was increased in summer in comparison with the control group (p = 0.04), and IL-10 an assay was normal in both seasons. The correlation between the C3 and factor-B in summer was significant. This study shows that the phototoxic reaction is not limited to the dermis but can also exert a systemic response, which could affect the general health of a patient. The knowledge of the pathophysiology of phototoxic reaction is essential for identifying new disease markers useful for improving clinical studies of known and future drugs.
Topics: Adult; Complement System Proteins; Dermatitis, Phototoxic; Female; Humans; Interleukin-10; Male; Malondialdehyde; Mast Cells; Middle Aged; Oxidative Stress; Protoporphyria, Erythropoietic; Seasons; Sunlight
PubMed: 31760565
DOI: 10.1007/s12026-019-09097-5 -
Actas Dermo-sifiliograficas Feb 2021
Topics: Colombia; Ferrochelatase; Humans; Incidence; Prevalence; Protoporphyria, Erythropoietic
PubMed: 32991848
DOI: 10.1016/j.ad.2019.04.019 -
Annals of Hematology Jun 2022
Topics: Anemia, Aplastic; Humans; Protoporphyria, Erythropoietic; Thiazoles; Thiophenes
PubMed: 34825961
DOI: 10.1007/s00277-021-04726-2