Erythropoietic protoporphyria presenting in adulthood

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

“…EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure. 4 Onset of symptoms in adults is rare [5][6][7][8] and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. 9,10 Here we describe a patient with EPP, in whom the presenting clinical symptom, nighttime itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype.…”

Case of late‐onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3‐48C polymorphism in the ferrochelatase gene

“…All of the patients developed symptoms at over 30 years of age; most cases were associated with MDS including sideroblastic anemia (SA). 3,7,[12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] Genetic analysis revealed that eight of 11 examined cases had an abnormality in chromosome 18, which codes the FECH gene; this finding suggests that an abnormal chromosome 18, possibly deletion of the FECH gene, in clones of myelocytes and peripheral blood cells induces EPP. In our patient, however, neither cytogenetic analysis nor direct sequence analysis detected any abnormalities in bone marrow cells.…”

New mutation identified in two sisters with adult-onset erythropoietic protoporphyria

“…4,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] Of these, 10 have been associated with blood dyscrasias, predominantly sideroblastic anaemia and are considered to be acquired, somatic disease, [8][9][10][11][12][13][14][15][16][17] while the other seven cases did not have dyscrasias. 4,[18][19][20][21][22][23] In only one of these cases was a germline genetic cause confidently assigned: a white woman with onset of symptoms in her forties was found to be heterozygous for the P334L FECH mutation in trans with the IVS3-48C allele. 22 The same genotype was found in her asymptomatic 45-year-old sister.…”

“…No genetic confirmation* Sato et al 9 56 Associated sideroblastic anaemia Murphy et al 19 62 Surgery for cholelelthiasis at the age of 29 years; no genetic confirmation * Bottomley et al 10 46 Associated sideroblastic anaemia Fallon et al 20 69…”