Pulmonary fibrosis is characterized by the accumulation of excessive scar tissue in the lungs. While in most cases the cause of the disease is not known, in which case the disease is called idiopathic pulmonary fibrosis (IPF), it sometimes can run in families and is called familial pulmonary fibrosis.

Risk factors associated with familial pulmonary fibrosis

Familial pulmonary fibrosis is very rare, with only about 100 families documented to have this condition, as reported in a 2013 study from Poland.

The exact cause of familial pulmonary fibrosis is not known, and it is thought to be the result of a combination of risk factors.

Certain mutations in genes such as TERC and TERT are seen in approximately 15 percent of patients with familial pulmonary fibrosis. These genes encode for an enzyme known as telomerase, which is responsible for maintaining the length of telomeres, structures located at the ends of chromosomes. Telomeres become shorter at each cell division and their shortening beyond a certain point is thought to trigger programmed cell death. Telomere integrity is therefore crucial for cellular health, with premature telomere shortening leading to cancer and age-related diseases, though it is not well understood how defects in these genes are linked to familial pulmonary fibrosis

These altered genes may be passed through generations in an autosomal dominant manner (meaning that only one copy of an altered gene is sufficient for the disease to develop). But some people with the same gene mutation causing the disease in others in their family never develop pulmonary fibrosis — a phenomenon known as reduced penetrance.

Symptoms

Patients with familial pulmonary fibrosis typically begin having symptoms from ages 50 to 70. Breathlessness and a dry cough are the most common symptoms, although fatigue, fever, weight loss, and muscle aches also may be present.

Diagnosis

Familial pulmonary fibrosis is first diagnosed by confirming the presence of pulmonary fibrosis. When this condition is suspected, patients usually need to undergo several tests and CT scans of the chest to assess lung function. A lung biopsy, which involves using a needle to extract a piece of lung tissue, or a bronchoalveolar lavage, a procedure that flushes small amounts of fluid into the lungs to collect cells for analysis, may be required to confirm the diagnosis.

Pulmonary fibrosis usually is considered to be familial when two or more members of the same family (either a parent, child, aunt/uncle or cousin) have been diagnosed with the disease. Genetic testing is available for several genes that have been shown to be linked to familial pulmonary fibrosis, but usually is not recommended due to their poor clinical use.

Treatment and prognosis

Treatment options for those with familial pulmonary fibrosis are similar to those available for other forms of pulmonary fibrosis. They include the use of anti-fibrotic medications, oxygen therapy, lung rehabilitation, or a lung transplant.

Genetic counseling and regular screening tests to detect emerging abnormalities can be considered for people with relatives who have been diagnosed with familial pulmonary fibrosis. Although this condition is as severe as idiopathic pulmonary fibrosis, early detection and treatment may lead to a better prognosis.

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