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[Familial Osler's disease with lung involvement]
A Grimm-Eckardt1, H K Deininger, H von Kaehne
1Strahleninstitut der Städt. Kliniken Darmstadt.
Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin
|June 1, 1989
Summary
Hereditary hemorrhagic telangiectasia (HHT), or Osler's disease, causes vascular malformations. Early diagnosis of pulmonary arteriovenous fistulas in affected families is crucial for timely intervention.
Area of Science:
- Vascular Medicine
- Genetics
- Radiology
Background:
- Hereditary hemorrhagic telangiectasia (HHT), also known as Osler's disease, is an autosomal dominant disorder.
- It is characterized by vascular dysplasias, including telangiectasias and angiomas, affecting skin, mucous membranes, and internal organs.
Observation:
- Over 50% of HHT patients present with arteriovenous lung malformations (PAVMs).
- PAVMs represent a significant complication in individuals with Osler's disease.
Findings:
- Screening for PAVMs using X-rays is recommended for all family members of HHT patients.
- Intravenous digital subtraction angiography (DSA) is the definitive diagnostic procedure for suspected PAVMs.
Implications:
- Early detection of PAVMs in HHT families can lead to prompt management.
- This diagnostic approach aids in preventing potential complications associated with undiagnosed PAVMs.