title: [Two sisters with lung emphysema].
abstract: α1-antitrypsin is an antiprotease that is mainly produced in the liver; it plays a crucial role in the protection of lung parenchyma against the destructive effects of proteases. Mutations in the α1-antitrypsin gene can cause α1-antitrypsin deficiency. Individuals homozygous for the Z-genotype have drastically lowered serum α1-antitrypsine concentrations and often develop lung emphysema at an early age.
  
  
  
  A 38-year-old woman and her 43-year-old sister both developed lung emphysema at an early age; this could be attributed to severe α1-antitrypsin deficiency. The only treatment for this condition is α1-antitrypsin supplement therapy, but this therapy is not reimbursed by health insurance companies in the Netherlands.
  
  
  
  α1-antitrypsin deficiency is a relatively rare cause of lung emphysema and can be seen as an orphan phenotype of chronic obstructive pulmonary disease (COPD). We appeal for reconsideration of coverage of α1-antitrypsine supplement therapy by basic health insurance in the Netherlands, on the basis of a recent randomised placebo-controlled study in which the protective effect of this therapy on progressive emphysema was demonstrated by CT lung densitometry.
authors.affiliation: Radboud Universiteit, Nijmegen.
authors.forename: I
authors.initials: I
authors.lastname: Piscaer
authors.forename: F M E
authors.initials: FM
authors.lastname: Franssen
authors.forename: N H T
authors.initials: NH
authors.lastname: Ten Hacken
authors.forename: E F M
authors.initials: EF
authors.lastname: Wouters
authors.forename: R
authors.initials: R
authors.lastname: Janssen
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009426:Netherlands; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D035781:Siblings; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy