SNP Shot: Genomic Insights

Idiopathic pulmonary fibrosis (IPF) is a long-term, progressive lung disorder characterized by the buildup of scar tissue (fibrosis) within the lungs. This scarring impairs the lungs' ability to efficiently transfer oxygen into the bloodstream. Typically, IPF affects individuals between 50 and 70 years of age. IPF is classified as an interstitial lung disease (ILD), a group of lung conditions involving inflammation or scarring.

Common indicators of IPF include shortness of breath and a persistent, dry cough. Many individuals also experience decreased appetite and gradual weight loss. Some develop clubbing, a widening and rounding of the fingertips and toes, due to oxygen deficiency. It's important to note that these symptoms are not specific to IPF; other, sometimes less severe, respiratory illnesses can present similarly.

As IPF progresses, lung scarring worsens, ultimately compromising the lungs' ability to supply adequate oxygen to the body's organs and tissues. Complications such as lung cancer, pulmonary emboli (blood clots in the lungs), pneumonia, or pulmonary hypertension (high blood pressure in the lung arteries) can also occur. The survival rate after diagnosis is typically 3 to 5 years, but the disease course varies considerably. Some individuals experience rapid decline, while others live with IPF for ten years or more.

Most IPF cases are sporadic, meaning they occur in individuals with no family history of the disease. However, a small percentage of cases are familial, with multiple family members affected. This familial form is called familial pulmonary fibrosis.

Inheritance:

The majority of IPF cases are sporadic, arising in individuals with no family history of the condition. Familial pulmonary fibrosis typically follows an autosomal dominant inheritance pattern. This means that inheriting just one copy of a mutated gene is enough to cause the disease. However, some individuals who inherit the mutated gene may never develop symptoms of familial pulmonary fibrosis (a phenomenon called reduced penetrance). The reason why some gene carriers develop the disease while others do not is currently unknown.