Fibrotic Cystic Lung Disease With Pulmonary Interstitial Cholesterol Granulomas (PICG) in Marfan Syndrome Associated Interstitial Lung Disease: A Case Report
Recommended Citation
McIntosh J, Abu Sayf A, Thavarajah K, and Abdul Hameed AM. Fibrotic Cystic Lung Disease With Pulmonary Interstitial Cholesterol Granulomas (PICG) in Marfan Syndrome Associated Interstitial Lung Disease: A Case Report. Am J Respir Crit Care Med 2024; 209.
Document Type
Conference Proceeding
Publication Date
5-20-2024
Publication Title
Am J Respir Crit Care Med
Abstract
Introduction: Marfan syndrome (MFS) is a common autosomal dominant connective tissue disorder caused by mutation of the FIBRILLIN-1(FBN1) gene located on chromosome 15. Classic manifestations of MFS involve the cardiovascular, skeletal, and ocular systems. However, up to 10 percent of individuals have MFS-associated pulmonary disorders including chronic obstructive pulmonary disease, spontaneous pneumothorax, bronchiectasis, sleep-disordered breathing, chest wall restriction, and interstitial lung disease (ILD). Here we present a case of a young female with MFS-associated ILD.
Case Description: 24-year-old neversmoker who immigrated from India one year prior with a history of MFS and a positive genetic test for FBN1 gene presented to the ILD clinic for evaluation of abnormal chest imaging and progressively worsening dyspnea. A physical exam revealed clubbing, striae atrophicae, and a positive wrist sign. An autoimmune review of systems and a comprehensive autoimmune workup were negative. No significant occupational or environmental exposures including exposure to Indium compounds was identified. High- Resolution CT (HRCT) Chest demonstrated mid and upper lobe predominant cystic changes, fibrotic changes (reticulation, traction bronchiectasis and honey combing), and ground glass opacity. Surgical lung biopsy showed pulmonary interstitial & interalveolar cholesterol granulomas (PICG), dense collection of chronic inflammatory cells, foamy & pigment-laden macrophages, foreign body giant cells, foci of lymphoid aggregates, and cystically dilated spaces. Pulmonary function testing was significant for combined obstructive and restrictive defect with impaired gas transfer. Echocardiography showed a normal aortic diameter. The case was discussed in the ILD multidisciplinary meeting where a consensus diagnosis of MFS-associated ILD was made and Nintedanib was recommended for progressive pulmonary fibrosis.
Discussion: The risk of ILD and pulmonary fibrosis in MFS has not been clearly established. Previous case series in patients with MFS-associated ILD have described the presence of upper lung fibrosis, bilateral honeycomb lung disease, and cystic lung disease. PICG on histopathology with or without cystic lung disease has been reported in Indium lung disease (novel occupational lung disease due to widespread use of indium-tin oxide in the production of electronic devices), juvenile rheumatoid arthritis, lysinuric lung disease, and exposure-related diseases with lipoid pneumonia or cholesterol pneumonitis. Endogenous lipoid pneumonia results from the accumulation of endogenous cholesterol esters in the lungs and has been observed in children whereas exogenous lipoid pneumonia is linked to inhalation of lipid material. Our case highlights a rare ILD manifestation in a patient with MFS with cystic lung disease and PICG on histopathology. (Figure Presented).
Volume
209
