Cystic Fibrosis (Mucoviscidosis)

Introduction CF is an inherited disease of your mucus and sweat glands It affects mostly the lungs, pancreas, liver, intestines, sinuses and sex organs An abnormal gene causes mucus to become extra thick and sticky This gene makes a protein that controls the movement of salt and water not work properly (retaining salt=thick secretions) This leads to mucus plugs

Introduction Continued Mucus plugs lead to collapsed lungs (atlectasis) Increased mucus in the lungs also allows for more bacterial growth which leads to frequent pneumonia Constant infections lead to inflammation in the lung

Introduction Continued Cystic fibrosis is the most common cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US. CF is a multi-system disorder of exocrine glands causing the formation of a thick mucus substance that affects the lungs, intestines, pancreas, and liver. The standard test for diagnosis is a sweat test which evaluates the level of chloride excreted by the body.

Diagnosis Normal Sweat 18 meq/L Positive Test 60 meq/l The sweat chloride test is performed to determine the amount of chloride that is excreted in sweat from the body during a certain period of time. The test may be performed on infants to determine if cystic fibrosis is present. Children with cystic fibrosis have increased sodium and chloride concentrations in their sweat. Normal Sweat 18 meq/L Positive Test 60 meq/l

Diagnosis Continued Detailed medical history is obtained (CF is Hereditary) Chest X-RAY to show scarring from frequent inflammation Sinus X-RAY Pulmonary Function Test (CF is a COPD); used only with individuals old enough to comply > 8years old usually Sputum Cultures to determine certain bacteria growth Blood tests to find abnormal CF gene

Often the first sign of CF begins after birth, the mother kisses the baby and they taste salty. Poor feeding occurs from blocked bile ducts (bile released from pancreas helps digest food)

Diagnosis Continued

Symptoms

Symptoms Increased WOB from plugged airways and air trapping Tenacious Secretions Frequent productive cough Frequent bouts of bronchitis and pneumonia Dehydration and malnutrition despite huge appetite; failure to thrive Infertility (mostly in men) Ongoing Diarrhea and stomach pain

CF leads to… Sinusitis: the sinuses have mucus build up leading to head ache ear and equilibrium problems Bronchiectasis: damaged lungs become overly stretched and retain secretions and gas Pancreatitis: Leads to inability to digest food, leading to bowl obstruction and sepsis Liver Disease, Diabetes, Gallstones and low bone density from lack of Vitamin D

CF leads to Respiratory failure The mucus plugs the airways causing collapse and increased WOB Increased PaCO2, decreased PaO2 and eventual death if not treated. Infections lead to inflamed and damaged lung lining Blocked pancreas leads to vitamin deficiencies There is no cure for CF only treatments; average life span is 30 years

Treatments for CF Chest physiotherapy (CPT) is the traditional means of airway clearance in CF. It uses postural drainage in various positions, percussion, vibration, deep breathing, and coughing to loosen and move secretions out of the lungs. The treatment time including an aerosol before is about 45 minutes. Done so by using manual percussion with hand, pneumatic precursor with device or by Vest.

Treatment for CF Chest Physical Therapy: Using the “Vest” or manual precursor. Helps loosen secretions with percusion

Treatment Continued PEP is a technique that uses a hand held device which can be used with a nebulizer attached. It has a restricted orifice. When exhaled into, this creates pressure in the lungs. This pressure allows air to enter behind areas of mucus obstruction and keeps the airways open during exhalation. As you exhale, mucus moves towards the larger airways, so it can be more easily coughed up with the huff technique. PEP can be taught to children as young as 5 years, and can be passively given to infants via a mask. The treatment time is about 20 minutes.

PEP Device

Treatment Continued Vibratory Positive Expiratory Pressure (Flutter®, Acapella®) Vibratory positive expiratory pressure is a hand held device. Exhaling into this device results in oscillations of pressure and airflow which vibrate the airway walls (loosening mucus), helps hold the airway open (which allows air to get behind secretions and keeps the airways open during exhalation). It speeds up airflow helping mucus move up to the larger airways where it can be more easily coughed up. Vibratory PEP can be taught to children as young as 2 years old by mask, and to ages 5 and up via mouthpiece. Treatment time is about 20 minutes.

Treatment Continued… Intrapulmonary Percussive Ventilation. The IPV is a pneumatic (air driven) device that delivers both continuous airway pressure and mini bursts of air. At the same time the IPV delivers a dense aerosol. The combination allows air to enter behind mucus blockage, and vibration to dislodge mucus from the airway walls so it can be more easily coughed up..

Treatment Continued Active Cycle of Breathing Active cycle of breathing is a series of breathing techniques, consisting of thoracic expansion exercises (deep breathing), breathing control (using the diaphragm), and the forced expiration technique (huff). These breathing cycles are performed in various positions of drainage similar to CPT positions but without the percussion. This can be taught at about the age of 8 years. Treatment time, including an aerosol before, is about 45 minutes.

Treatments Autogenic Drainage Autogenic Drainage is a breathing technique which involves 3 phases of breathing levels: The first phase is the unsticking phase which is inhalation and exhalation of small amounts of air. Phase two is the collection phase where medium sized breaths are inhaled and exhaled. Phase three is the evacuation phase where large amounts of air are inhaled and exhaled.

Treatments Hand Held Nebulizers are used in conjunction with PEP, IPV, CPT and breathing techniques The nebulizer will nebulize medications that bronchodilate and help Break up mucus, as well as antibiotics

Medications Used Antibiotics: Tobramycin and azithromycin to fight bacterial infection. Given by aerosol in nebulizer or by IV Anti-Inflammatory Drugs: Steroids given inhaled or by IV; also Ibuprofen is given Bronchodilators: Albuterol/Xopenex given to relax smooth muscle Mucolytics: Given with bronchodilators to break up thick secreations. Main one is Dornase Alfa (Pulmozyne) made specifically for CF patients

More Treatments Oxygen Therapy at low concentrations. Lung Transplantation; depends on severity of illness and health of participate Nutritional therapy; oral pancreatic enzymes to digest fats and proteins and absorb vitamins. Vitamin supplements of A, D, E and K Feeding tube at night (G-Tube) Enemas and stomach meds to control acid

Conclusion CF is a deadly hereditary disease that is treatable but not curable CF causes abnormally thick mucus which blocks bile ducts and plugs up the lung and sinus May lead to respiratory failure, malnutrition and frequent pnuemonias Treatment includes methods to remove and thin mucus and medications to treat digestive problems, and infections