Cystic Fibrosis Treatment in Bristol, VA
Cystic fibrosis (CF) is a progressive, genetic disease that typically manifests with chronic lung infections. People with cystic fibrosis have a defective gene that causes mucus in the pancreas to block the release of enzymes essential for digestion and nutrient absorption, having a massive deleterious effect on overall health, strength and immunity. In the lungs, the buildup of mucus clogs the airways. The mucus also traps bacteria. Repeated, persistent lung infections develop causing extensive lung damage over time.
There are over 70,000 cases of cystic fibrosis worldwide—30,000 of which are in the U.S. Over 1,000 new cases are diagnosed each year, with three-quarters of them diagnosed by the age of two. Typically thought of as a childhood disease, today there are more adults with cystic fibrosis than children. There is no cure for cystic fibrosis, but breakthrough treatments are extending lives and improving the quality of life for people who are born with the disease.
Since the condition is progressive and debilitating, it is important to seek treatment early to minimize symptoms and slow its progress. To schedule a consultation with a healthcare provider in Bristol who specializes in cystic fibrosis treatment, call (423) 482-8711 or contact Dr. Dalal Akoury online.
What Causes Cystic Fibrosis?
Cystic fibrosis is genetic in origin. The specific defective gene that causes cystic fibrosis was identified in 1989. If both parents carry at least one copy of the defective CF gene, the infant can inherit one copy from each parent, and cystic fibrosis is the result. People who only inherit one copy of the defective CF gene do not develop cystic fibrosis. They are carriers, however, and can pass their CF gene along to their offspring.
Risk factors for the disease include a family history of cystic fibrosis and race. While cystic fibrosis can occur in all races, approximately 1 in 25 Caucasians are carriers of the defective CF gene. In most cases, carriers are asymptomatic, but there are rare cases where symptoms may arise (e.g., sinus problems, male infertility, issues with the pancreas, etc.).
What are Cystic Fibrosis Symptoms?
The symptoms—as well as the severity of cystic fibrosis symptoms—can vary widely from person to person. Cystic fibrosis is a complex illness involving chronic respiratory disease as well as a digestive disease. The effects of malnutrition may manifest differently patient to patient. Some individuals are more resilient than others, and some take better care of themselves. A cystic fibrosis patient who smokes will clearly suffer more extreme symptoms than one who does not smoke. The course and severity of the disease will also vary based on the age of the individual when they were diagnosed and began being treated for cystic fibrosis. The potential symptoms of cystic fibrosis include the following:
- Malnutrition and associated symptoms
- Persistent coughing, with or without phlegm
- Frequent, persistent lung infections including pneumonia or bronchitis
- Shortness of breath, difficulty breathing or wheezing
- Slowed growth
- Difficulty gaining weight
- Frequent greasy, bulky stools or otherwise problematic bowel movements
- Fat malabsorption
- Male infertility
- Liver, gallbladder disease
- Diabetes in older patients
- Advanced lung disease
- Strong salty taste to the skin
Children with cystic fibrosis typically exhibit the following symptoms:
- Failure to thrive/slow growth
- Wheezing or trouble breathing
- Recurrent bronchitis or pneumonia
- Persistent cough
How is Cystic Fibrosis Diagnosed?
Today there is newborn screening for cystic fibrosis. Over 75 percent of people with cystic fibrosis are diagnosed by age two, and only five percent are diagnosed in adulthood. Those patients may not present with typical cystic fibrosis symptoms early in life, typically because they may have milder mutations and milder forms of cystic fibrosis.
For a proper cystic fibrosis diagnosis, your healthcare provider will conduct a sweat chloride test in which a sample of arm sweat is collected and measured for electrolyte levels, particularly chloride levels. Elevated chloride levels are sufficient for a cystic fibrosis diagnosis, but testing may include:
- Sputum cultures
- Lung function tests
- Blood tests (especially in genetic testing)
- X-rays of sinuses or chest
What is the Treatment for Cystic Fibrosis?
Cystic fibrosis treatment is highly individualized and constantly-evolving. Early diagnosis of cystic fibrosis can help you to manage symptoms and complications before they worsen. Common interventions include clearing the lungs of mucus to prevent infection and dietary modifications which can help prevent malnutrition.
Treatment for cystic fibrosis may also involve:
- Clearance of airways: Often, people with cystic fibrosis wear an inflatable vibrating vest to help loosen mucus. Other mechanical airway clearance techniques may require assistance from caregivers, whether they are family members, friends, nurses or respiratory therapists. Inhaled medicines are often utilized to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
- Supplemental pancreatic enzyme capsules: Blocked production of enzymes in the pancreas leads to nutritional deficiencies and health problems related to malnutrition. Pancreatic enzymes should be taken with all meals and snacks.
- Other supplements: Vitamins and herbal concoctions may be helpful for cystic fibrosis patients. IV nutritional support is also being investigated for cystic fibrosis patients.
- Exercise: Exercise and strength training are two of the most important factors in the quality of life and sustained health for people with cystic fibrosis.
Advanced cystic fibrosis—especially advanced lung disease—can be treated with transplant surgeries. Lung transplants especially can extend the lives of people with cystic fibrosis after a lifetime of respiratory illness has ravaged their lungs.
The Future of Cystic Fibrosis Treatment
Researchers and think tanks seeking a cure and advanced treatment protocols for cystic fibrosis are working tirelessly on behalf of cystic fibrosis patients. The FDA has approved drugs designed to treat the root cause of cystic fibrosis—believed to be a defective protein known as CFTR. This new group of drugs, called CFTR modulators, are believed to be a historic step forward reshaping how cystic fibrosis is being treated. The hope is that CFTR modulators could increase cystic fibrosis life expectancy by decades.
If you or a loved one is suffering from cystic fibrosis, don't delay in seeking life-saving treatment. Make an appointment in Bristol today to learn more about your cystic fibrosis treatment options. Call (423) 482-8711 or contact Dr. Dalal Akoury online.
AWAREmed Health and Wellness Resource Center
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