ADOPTING ORPHAN DISEASES RARE INTERSTITIAL LUNG DISEASES

adoptingorphandiseaseskapak

PLEUROPARENCHYMAL FIBROELASTOSIS

Özlem Özdemir Kumbasar

Ankara University, Faculty of Medicine, Department of Chest Diseases, Ankara, Türkiye

Ozdemir Kumbasar O. Pleuroparenchymal Fibroelastosis. In: Altinisik G, McCormack FX, editors. Adopting Orphan Diseases: Rare Interstitial Lung Diseases. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.159-169.

ABSTRACT

Pleuroparenchymal fibroelastosis (PPFE) is a serious type of interstitial lung disease (ILD) described with predominant upper lobe pleural and parenchymal fibroelastosis. PPFE is divided into two groups: idiopathic and secondary PPFE. Idiopathic PPFE (iPPFE) was classified in the rare idiopathic interstitial pneumonia (IIP) group in 2013 “American Thoracic Society/European Respiratory Society International Multidisciplinary Consensus Classification of Idiopathic Interstitial Pneumonias”. Secondary PPFE is related to different causes such as medications, hematopoietic stem cell or bone marrow transplantation, lung transplantation, radiation therapy, autoimmune diseases, exposures, infections.

Actual incidence and prevalence of PPFE is not known . Patients with PPFE may occur at any age, it is more frequent between the ages of 30-60 years. The onset of the disease is usually insidious and progressive; the main symptoms are exertional dyspnea, dry cough, weight loss; platythorax is an important physical finding. Pneumothorax is a frequent complication. Clubbing is rare, fine cracles may be heard in some patients. Pulmonary function test reveals restrictive defects. Residual volume (RV) and ratio of RV to total lung capacity (RV/TLC) may increase. Diffusion capacity (DLco) is less decreased than forced vital vapacity. Hypercapnia is a frequent finding and hypoxemia is less prominent; hypoxemia and hypercapnia may coexit in advanced stages. High PCO2 level is associated with poorer prognosis. Chest x-ray shows apical thickening, subpleural reticular densities in the upper lung areas, upward shift of hilar structures due to progressive volume loss. Typical computed tomography findings are pleural thickening, subpleural dense consolidation and reticulations, dense fibrotic bands adjacent to pleura predominantly localized in upper lobes. Pathological findings of PPFE are dense subpleural, intraalveolar fibrosis with the deposition of elastic fibers; fibrous visceral pleural thickening, mild lymphocytic inflammation, fibroblastic foci (rare). The lung parenchyma far from pleura is usually preserved. Diagnostic methods for PPFE are clinical, radiological, physiological and histopathological evaluation.

Risk of pleural complications and acute exacerbation of interstitial lung disease limits the use of surgical biopsy. There is no effective treatment for PPFE. Prognosis of patients with iPPFE was found poorer than those of patients with IPF, most important cause of death is chronic respiratory failure. Psychological support and pulmonary rehabilitation are important for supportive care methods, but pneumothorax and pneumomediastinum may interrupt exercise programs. Oxygen therapy should be given to hypoxemic patients, monitoring for hypercapnia is important. Noninvasive positive pressure ventilation is administered to hypercapnic patients with chronic respiratory disease, but risk of pneumothorax limits the use of positive pressure ventilation. High flow nasal oxygen therapy may be an option for hypercapnic PPFE patients.

Keywords: Interstitial lung diseases; Idiopathic interstitial pneumonia, Pleuraparenchymal fibroelastosis; Bone marrow transplantation; Lung transplantation

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