Risk to Family Members

Inheritance of genes

We receive half of our genes from our mother and the other half from our father.
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Parents of a patient with the diagnosis of FPF

  • Most individuals diagnosed with FPF have a affected parent.

  • Although most individuals diagnosed with FPF have an affected parent, the disorder may appear to have skipped a generation (i.e., the individual diagnosed has an affected grandparent) because of reduced penetrance.

Siblings of a patient

  • The risk to the siblings of the proband depends upon the genetic status of the patient’s parents.

  • If a parent of the patient is affected or known to have a disease-causing mutation on the basis of family history, the risk to the sibs of inheriting the mutation is 50%. Because the penetrance is likely reduced, the risk to sibs of being affected is less than 50%.

Children of a patient

  • Each child of an individual with FPF has a 50% chance of inheriting the disorder; however, because penetrance is likely reduced in FPF, the risk to offspring of being affected is less than 50%.

Other family members of a patient

  • The risk to other family members depends upon the status of the patient’s parents. If a parent is found to be affected, his or her family members are at risk.

 

Screening of Relatives at Risk

We recommend that every five years, asymptomatic first-degree relatives (of individuals with FPF) older than age 50 years should undergo screening for pulmonary fibrosis. 

Screening can include:

  • Pulmonary function tests
  • High-resolution CT (HRCT) images of the chest to detect early abnormalities
  • Complete a standardized questionnaire to assess the presence of respiratory symptoms.

Up to 50% of unaffected at-risk family members have a positive screen and require further evaluation.