Familial idiopathic pulmonary fibrosis

Idiopthetic Pulmonary Fibrosis, Fibrosing alveolitis, cryptogenic, Fibrocystic pulmonary dysplasia, Fibrosing alveolitis, Hamman-Rich Disease


Type of disease: Rare Condition or Disease

Idiopathic pulmonary fibrosis (IPF) is a condition in which tissues in the lungs become thick and stiff, or scarred, over time. The lungs then lose their ability to move oxygen to the brain and other parts of the body. Common symptoms include shortness of breath and a dry, hacking cough. In some cases fibrosis happens quickly, while in others, the process is much slower. Sometimes the disease stays the same for years. The condition is ‘idiopathic’ because the cause is unknown. When multiple family members are affected, it is called familial IPF. Many people with this condition live for about 3-5 years after the diagnosis. The most common cause of death is respiratory failure.
In the past, the goals of treating idiopathic pulmonary fibrosis (IPF) have been to prevent more lung scarring, relieve symptoms, maintain the ability to be active, and improve the quality of life. More recently, pirfenidone (an anti-fibrotic drug) has been approved to treat people with mild-to-moderate IPF in the European Union, Canada, and Asia. The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation for pirfenidone and nintedanib, due to trials suggesting they slow the progression of IPF. Several other drugs are being studied as potential treatments including cotrimoxazole, thalidomide, sildenafil, andimatinib mesylate. However, more research is needed to determine their safety and effectiveness.
Idiopathic pulmonary fibrosis (IPF) are caused by heterozygous mutation in the SFTPA2 gene, encoding pulmonary surfactant protein A2, on chromosome 10q22.
Evidence suggests that susceptibility to the disease may also be conferred by a polymorphism in the SFTPA1 gene on chromosome 10q22 or a promoter mutation in the MUC5B gene on chromosome 11p15.

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