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Adult Surfactant Protein Deficiency

A rare but important cause of adult interstitial lung disease

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göğüs Hastalıkları department. Book Appointment →

What is Adult Surfactant Protein Deficiency?

Adult surfactant protein deficiencies are rare interstitial lung diseases caused by mutations in surfactant biology genes including SFTPC, SFTPA1, SFTPA2, and ABCA3.

The clinical spectrum ranges from a fatal infantile form to adult-onset progressive pulmonary fibrosis. Risk of lung cancer may also be increased in some genotypes.

Treatment may include corticosteroids, hydroxychloroquine, azithromycin, and antifibrotic agents (pirfenidone, nintedanib). Lung transplantation is an option in severe cases.

Symptoms

Chronic dyspnea
Dry cough
Progressive fibrosis
Family history of lung disease
Digital clubbing
Exercise intolerance
Acute exacerbations in some cases

Risk Factors

Family history of IPF
Early-onset IPF
Childhood ILD history
Unexplained ILD
SFTPC/SFTPA mutation
ABCA3 mutation
Disease in relatives

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Family history of early IPF
  • Young-age ILD
  • Childhood history of ILD
  • Unexplained progressive fibrosis
  • Genetic test evaluation
  • Transplant evaluation

Treatment Methods

01
Corticosteroid
02
Hydroxychloroquine
03
Azithromycin
04
Pirfenidone/nintedanib
05
Lung transplantation
06
Family screening
07
Genetic counseling

Which Department to Visit?

You can visit our Göğüs Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Göğüs Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.