11 Fatal Pulmonary Hemorrhage in a Patient With Loeys Dietz Syndrome: A Novel Case Report. (11th January 2018)

• Record Type: Journal Article
• Authors: Sobczyk, Juliana; Lin, Grace; Fadare, Oluwole
• Is Part Of: American journal of clinical pathology. Volume 149(2018)Supplement 1
• Page Start: S4
• Page End: S5
• Publication Date: 2018-01-11
• Subjects: Diagnosis, Laboratory -- Periodicals; Pathology -- Periodicals; 616.07
• DOI: 10.1093/ajcp/aqx114.010
• Languages: English
• ISSNs: 0002-9173

Abstract

Abstract: Loeys Dietz Syndrome (LDS) is a rare autosomal dominant genetic connective tissue disease characterized most commonly by aneurysms, arterial tortuosity, hypertelorism, and a bifid or broad uvula. Four main genetic mutations have been associated with LDS: TGFRBR1, TGFRBR2, SMAD3, and TGFB2. We report a case of a 47-year-old woman with a medical history of LDS, TGFBR2 gene mutation type, with associated complications including aneurysm status post near complete replacement of her aorta (in stages) and mechanical aortic valve replacement in 1987, with recurrent episodes of massive hemoptysis of unknown etiology. The patient had suffered from hemoptysis for years and had multiple bronchoscopies performed that were all unable to determine a cause of the bleeding. She presented at an outside hospital site with fatal massive hemoptysis and was transferred to our institution for an autopsy. At autopsy, pertinent gross findings were pleural adhesions, hemorrhagic left lower lobe of the lung, lung edema, and dark brown contents of the stomach and duodenum, consistent with ingested blood. Microscopically, the lungs showed focal acute lung injury with patchy hyaline membranes. An elastin stain showed scattered elastic fiber atrophy and fragmentation in medium to small sized vessels. In addition, evidence was found of recent and old pulmonary hemorrhage with abundant hemosiderin-laden macrophages. To our knowledge, this is a novel case report of fatal pulmonary hemorrhage occurring in a patient with LDS. This case illustrates an unusual fatal complication of LDS and the diagnostic challenges presented given its lack of premortem diagnosis and treatment.