Cystic Fibrosis Symptoms and Treatment
Short Overview of Cystic fibrosis
Cystic fibrosis is an inherited metabolic disease. Patient’s genes are changed which are important for the production of body secretions. These are much tougher than usual. Consequences include respiratory problems and digestive disorders. Cystic fibrosis is incurable. With a consistent treatment of the disease can also be slowed. Nevertheless, the life expectancy is significantly shortened.
What is Cystic Fibrosis ?
Cystic fibrosis is an inherited metabolic disorder which the formation of various body fluids are disturbed. The secretions of the lungs, pancreas and other organs are more viscous than in healthy people. Viscous mucus clogs the small branches of the bronchial tubes and the ducts of the internal organs. Breathing and digestion are particularly affected. In the course of the disease , organs can work as worse.
Cystic fibrosis disease are caused by genetic defects.Therefore, cystic fibrosis is not curable. Time of diagnosis and severity of symptoms can vary individually. Without treatment, health of the patients continue to deteriorate. With early treatment, course of cystic fibrosis can not be stopped totaly but it can be slowed down. Despite the improved treatment options , cystic fibrosis patients in comparison to healthy people have shorter life expectancy.
Cystic fibrosis is one of the most common congenital metabolic disorder in Europe and North America.
What Are The Symptoms of Cystic Fibrosis ?
Cystic fibrosis symptoms can vary from patient to patient. Disease affects the function of various organs, especially the lungs and digestive organs. Reason is that the body secretions are extremely viscous due to a genetic modification. Although cystic fibrosis is incurable, their symptoms can be alleviated by the intensive therapy.
In most cases, cystic fibrosis show symptoms within the first year of life. So, the disease can be diagnosed early and treatment should be started rapidly. Some patients have only significant complaints when they are young. Severity of the discomfort can vary due to patients.
Changes In Body Fluids : The formation of Clorid-ion channels are disrupted in the cells. Thus, the composition of the body fluids change.
Versatile Cystic Fibrosis Symptoms: The disease affects a wide range of organ systems. Often first cystic fibrosis symptoms show in the lungs and in the digestive tract. In the course of life more complaints can be added. By targeted therapy, the complaints are easy to treat. However, disease episodes can be threatening. It is particularly dangerous if respiratory tract is blocked by the thick mucus.
Symptoms of the Lung: In most cases, cystic fibrosis slightly symptoms occur in older infants. Newborns usually have no problems with breathing. Cystic fibrosis symptoms often manifest in the form of pertussis and chronic cough in heavier children. The mucus in their airways is increasingly tough and thick. Airways of the lungs are obstructed. Over time, a progressive dyspnea develop.
Bacterias can more easily colonize and cause infection. Recurrent pneumonia or Bronchial infections mainly are caused by bacteria such as Staphylococcus and Pseudomonas species. The disturbed salt balance in the lungs also hinder the body’s own defenses. Also pulmonary hemorrhage can occur.
The complaints sometimes fall when already large parts of the lung tissue is destroyed or the respiratory system is completely narrowed.
Pancreas Symptoms: In patients with cystic fibrosis often have an inflamed pancreas. The pancreas secretes a secretion that contains other enzymes which serve to digest fat.
In cystic fibrosis patients, the secretion accumulates back due to its viscosity and causes inflammation.
In the further course, pancreatic tissue hardens and transforms itself. Doctors call this ‘’ a fibrosis’’.
Bile Symptoms : Pancreas and gallbladder share a common excretory duct into the intestine. Therefore, the backflow of stomach saliva secretion is also an inflammation of the gallbladder cause. In the extreme case, it leads to the formation of gallstones that block the bile discharge from the gallbladder partially or completely.
Symptoms of the digestive tract: In addition to complaints of pulmonary cystic fibrosis symptoms, there are also complaints in the field of digestive. The lack of bile fat digestion is impaired, for example. The patients often tolerate greasy food. Affected children, even infants, often suffer from severe diarrhea. Stunting and malnutrition are more classic episodes of the disease.
Such discomfort in the digestive may also occur in other diseases. However, in combination with breathing problems are a characteristic indication of cystic fibrosis which should be investigated necessarily.
Symptoms of liver: Under the backflow of bile, the liver is damaged. Many patients develop a fatty liver. This allows fatigue, loss of appetite, bloating and flatulence and pressure feelings or mild pain in the upper abdomen.
In rare cases, cirrhosis may develop and noticeable form of jaundice can be seen.
Other Symptoms of Cystic Fibrosis
- Delay of 2 years on average puberty.
- Gastroesophageal reflux disease, probably is caused by coughing.
- Joint pain in some adults.
- Osteoporosis can affect
- Sometimes fingertips becomes bluish due to respiratory failure.
What Are The Causes of Cystic Fibrosis ?
Cystic Fibrosis is caused by a genetic defect. Cystic fibrosis was first described in 1936 by Dr. Guido Fanconi, a Swiss pediatrician. But the responsible gene which is called ‘’CFTR (Cystic Fibrosis Transmembrane conductance Regulator) ” was identified in 1989 by Canadian researchers. People with cystic fibrosis have abnormal CFTR gene.
Result : Mucus produced is too thick and does not flow normally. Cystic fibrosis is not contagious and its emergence can not be prevented. Individuals with pathogenic mutations in the CFTR gene develop the disease sooner or later (some mutations of the gene are less severe and do not cause symptoms).
How Cystic Fibrosis is Diagnosed ?
Cystic Fibrosis is usually diagnosed in the first year of life. In 90% of cases, disease is detected before the age of 10 years.
To confirm the diagnosis, the doctor conducts a sweat test. Indeed, the sweat of people with cystic fibrosis is far more concentrated salt 2 to 5 times more than normal. Genetic tests are available and can confirm that the CFTR gene is abnormal.
In some countries , cystic fibrosis is screened routinely in all newborns. It is shown that early detection improves the quality of life and life expectancy of affected children.
In the 1960s, the life expectancy of children with cystic fibrosis did not exceed 5 years. Today, according to the latest statistics, the median age of survival is 47 years. According to the Cystic Fibrosis Foundation, majority of people today can expect to live beyond 40 years. Respiratory infections are the most common cause of death.
What Are The Complications of Cystic Fibrosis ?
Cystic fibrosis has many complications that can be life threatening. It is a disease that progressively damages the lungs, pancreas and liver. However, medical monitoring can reduce the severity and frequency of complications.
- Respiratory complications are the most frequent which inlude bronchiectasis, bronchitis, pneumonia and recurrent sinusitis. There are periods of worsening respiratory symptoms where patients have trouble breathing and lose weight due to infection. Some respiratory infections can even be fatal for people with cystic fibrosis.
- As regards the gastrointestinal system, obstruction of the channels connecting the liver to the intestine can lead to cirrhosis. The obstruction of the pancreas can cause malabsorption of nutrients and the onset of diabetes. These disorders often lead to significant nutritional deficiencies and chronic diarrhea. In general, deficiencies can be corrected by a special scheme. Conversely, a significant constipation or intestinal obstruction may also occur.
- In general, puberty occurs later in boys and girls with cystic fibrosis. Finally, cystic fibrosis decreases fertility, especially among men. In women, the increased viscosity of vaginal mucus limits the movement of sperm. The disease can also affect the regularity and frequency of ovulation. Fertility decreases, but pregnancy is still quite possible.
Cystic Fibrosis Treatment
There is no treatment for this disease. Cystic fibrosis requires a multidisciplinary management and a regular medical monitoring. Multidisciplinary team consists of a doctor, nurse, respiratory therapist, a dietitian, social worker, physiotherapist, pharmacist and for children, a child psychiatrist. Patients consult clinic in every 3 months.
The following treatments can reduce symptoms and help to live better with disease.There are 3 main areas of medical treatment :
- Breathing treatments,
- Nutritional treatment
- Psychological and social support.
The Lung Transplant
When the bronchis are too damaged (or dilated) by the disease a lung transplant may be considered. It helps remove diseased lungs and replace them with healthy lungs, taken from a deceased donor. Sometimes a heart transplant can be performed at the same time when right ventricle of the heart is damaged.
The transplant allows to find breath and resume a more active lifestyle. However, this is a risky operation that is reserved for the most severe cases. Donors are rare and many incompatibility issues.Transplanted person undergo immunosuppressive treatment for the rest of his life. Finally, be aware that lung transplantation does not eliminate cystic fibrosis digestive problems and other symptoms are still present.
The lung transplant is practiced especially in adults. Nowadays, it is rare that a transplant is needed before the age of 18. According to US studies, the transplantation is successful in 80% of cases.
Can We Prevent Cystic Fibrosis ?
Unfortunately, it is impossible to prevent cystic fibrosis in children whose both CFTR genes are mutated. The disease is present at birth, although symptoms can appear later.
Couples with a family history of the cystic fibrosis in the family or birth of a first child can consult a genetic counselor to determine their risk of giving birth to a child with the disease. The genetic counselor will educate parents about the various options available to help them to make informed decision.
In recent years, it can be detected the genetic mutation among parents before pregnancy. This test is usually offered to couples with a family history of cystic fibrosis. The test is done on a sample of blood or saliva. The objective is to detect any mutation in parents, which would make them capable of transmitting the disease to their unborn child.
However, be aware that the tests can only detect some of the 1500 possible mutations of the gene in question. The test still an efficiency of about 80% to 85%.
Prenatal screening. If parents gave birth to a first child with cystic fibrosis, they can benefit from prenatal diagnosis for subsequent pregnancies. Prenatal diagnosis can detect possible mutations of the cystic fibrosis gene in the fetus. The test involves taking placental tissue after the 10th week of pregnancy. If the result is positive, the couple can choose between terminating the pregnancy or continue.
Screening of newborns. The objective of this test is to identify newborns with cystic fibrosis to provide them with the treatment required as soon as possible.
Measures to prevent complications
This is the classic steps to reduce the risk of infections:
- Wash hands with soap and water regularly
- Use disposable tissues and avoid contact with people with colds or suffering from a contagious disease.
- Receive vaccines against influenza (annual vaccination), measles, whooping cough and chicken pox to reduce the risk of infection.
- Avoid getting too close contact with other people with cystic fibrosis who are likely to pass a lung infection
- Use clean equipment for the treatment (mask, nebulizers, aerosols)