What are the Signs of Cystic Fibrosis?

Most signs of cystic fibrosis arise out of the digestive and respiratory system and may include chronic lung infection, bloating, salty skin, difficulty gaining weight, and pale, fatty stools. Usually, the signs of cystic fibrosis are noticed early on in a child’s life, with the disease is generally diagnosed by the age of two. Some patients don’t exhibit symptoms until their teens or even adulthood, but this is rare and usually a less severe form of the disease.

Cystic fibrosis (CF) is a genetic disease inherited by children of parents who both carry the CF gene. Where mucus is supposed to lubricate the inside of the body, cystic fibrosis causes mucus producing cells to make abnormally thick, glue-like secretions. The sticky mucus clogs passageways and harbors infections, causing life-threatening problems in the pancreas, which makes digestive enzymes to help break down food, and in the lungs.

One of the earliest signs of cystic fibrosis is meconium ileus, a condition in which the meconium, or first stools, of the baby is stuck in the small intestine. The newborn will exhibit vomiting and a swollen belly soon after delivery, but this does not necessarily mean the child has cystic fibrosis. Other symptoms in a newborn include markedly salty skin, no stools within the first day or two after delivery, and difficulty growing or putting on weight.

Some people may not notice the signs of cystic fibrosis until later in life, though it is usually picked up before a child reaches adolescence. Respiratory symptoms include productive coughing, or coughing that brings up secretions called sputum; fatigue; nasal polyps, congestion; sinus pain; and frequent pneumonia. Pneumonia symptoms may be escalated in patients with cystic fibrosis, often adding more coughing, more sputum, less appetite, and fever. Lung infections are often the ultimate cause of death in CF patients.

The bowel system also presents signs of cystic fibrosis. These include greasy, abnormally bad-smelling stools that may float in toilet water, bloating, gas, a distended belly, constipation, loss of appetite, drop in weight, and nausea. Patients with cystic fibrosis may also suffer from rectal prolapse, in which part of the rectum comes out of the anus.

There is no way to prevent or cure cystic fibrosis. People experiencing signs of cystic fibrosis, especially those with fatty stools and lung infections, should see a doctor, however, as many medical advances have made it possible to improve the lifespan and quality of life for those struggling with CF. Treatments to help manage cystic fibrosis include antibiotics to combat lung infections, special diets and supplements to keep bowel problems to a minimum, and lung transplants in some cases.