Clinics in chest medicine
-
Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by the accumulation of surfactant in alveoli and terminal airways resulting in respiratory failure. PAP comprises part of a spectrum of disorders of surfactant homeostasis (clearance and production). ⋯ The diagnosis of PAP-causing diseases in secondary PAP requires further studies. Whole-lung lavage is the current standard therapy and promising new pharmacologic therapies are in development.
-
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest.
-
Eosinophilic lung diseases especially comprise eosinophilic pneumonia or as the more transient Löffler syndrome, which is most often due to parasitic infections. The diagnosis of eosinophilic pneumonia is based on characteristic clinical-imaging features and the demonstration of alveolar eosinophilia, defined as at least 25% eosinophils at BAL. ⋯ All possible causes of eosinophilia, including drug, toxin, fungus related etiologies, must be thoroughly investigated. Extrathoracic manifestations should raise the suspicion of eosinophilic granulomatosis with polyangiitis.
-
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.
-
Clinics in chest medicine · Sep 2016
ReviewPulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease.
This article provides an overview of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH), two disorders that challenge clinicians, radiologists, and pathologists because they often mimic pulmonary arterial hypertension (PAH). The article reviews the features that differentiate PVOD and PCH from PAH. The article also describes the overlap of PVOD and PCH, highlighted by recent reports of families diagnosed with PVOD or PCH caused by EIF2AK4 mutations. In addition, the article outlines current approaches to the diagnosis and treatment of PVOD and PCH.