Rare Diseases Symptoms Automatic Extraction

Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria.

[erythropoietic protoporphyria]

Painful photosensitivity is characteristic of erythropoietic protoporphyria (EPP). In women, symptoms may be affected by menstrual cycle and pregnancy but very little is known about maternal and fetal outcome.To investigate the impact of menstruation, pregnancy and breast-feeding on photosensitivity and possible effects of EPP on maternal, fetal and neonatal outcome.Retrospective study screening all 20 Swedish women alive and older than 18 years diagnosed with EPP with a total of 33 deliveries. Data were retrieved for 19 women and 32 deliveries in medical records and completed by a questionnaire sent to the patients.Photosensitivity worsened in five of 19 (26%) women around menstruation whereas amelioration was reported in 17 of 32 (53%) pregnancies and during 11 of 32 (34%) breast-feeding periods. Fertility rate was normal and there were no maternal or fetal complications apart from minor arterial hypertension in one woman.The study confirms changes in photosensitivity during menstruation and pregnancy. Amelioration during breast-feeding is a new finding. Pregnancy appears safe without increased risks of pregnancy complications or adverse effects on fetal or neonatal health.

Diseases presenting "hypertension" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • cadasil
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cystinuria
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated