Cystic Fibrosis Overview

• Presented below are study notes on a number of conditions

Cystic Fibrosis

• This condition affects cells that produce mucus, sweat, and digestive juices
• Normally, these fluids are thin and slippery, protecting internal tubes and ducts
• Individuals with this medical condition produce abnormally thick, sticky mucus, resulting in infections
• Airways become clogged, weakening the respiratory system and causing breathing difficulties
• There is an increased risk for infections

Causes of Cystic Fibrosis

• This condition is an inherited genetic disorder caused by gene mutations
• The mutated gene produces a faulty protein that thickens mucus
• An individual must inherit two copies of the mutated gene to develop the condition

Symptoms of Cystic Fibrosis

• Frequent lung infections occur because mucus buildup acts as a breeding ground for bacteria that the body struggles to remove
• Cilia cannot effectively clear the thick, sticky mucus, leading to chronic coughing as the body tries to clear the mucus
• Wheezing and shortness of breath occur when mucus clogs the airways, hindering airflow

Treatment of Cystic Fibrosis

• There is no cure, only treatment options
• Antibiotics treat and prevent lung infections
• Mucus thinning medications loosen and thin the mucus clogging airways
• CFTR modulators correct the faulty protein, improving lung function and overall health

Collapsed Lung (Pneumothorax)

• Air leaks into the space between the lung and chest wall, causing the lung to collapse or partially collapse
• The accumulation of air in the pleural space puts pressure on the lung, preventing it from fully expanding, resulting in difficulty and painful breathing

Causes of a Collapsed Lung

• Trauma and injuries: Chest injuries or medical procedures that damage or puncture the chest wall
• Lung diseases: COPD, lung cancer, and cystic fibrosis increase the risk
• Spontaneous pneumothorax: Ruptured air blisters on the surface of the lungs or underlying connective tissue conditions
• Open pneumothorax: An open wound in the chest wall allows air to enter the pleural space
• Closed pneumothorax: Air leaks into the pleural space from within the lung itself without an external wound
• Tension pneumothorax: Air builds up in the chest cavity, compressing the lung, which can impair blood flow to the heart

Symptoms of a Collapsed Lung

• Sudden, sharp chest pain that worsens when breathing in or coughing
• Shortness of breath and difficulty breathing
• Rapid breathing/heart rate as the body compensates for lack of oxygen
• Decreased or absent breath sounds on the affected side when listened to by a doctor
• Nasal flaring

Treatments for Collapsed Lung

• Observation and oxygen therapy: A small pneumothorax may resolve with supplemental oxygen and monitoring
• Needle aspiration: A needle attached to a syringe removes excess air from the chest cavity in cases of larger pneumothoraxes
• Chest tube drainage: A tube inserted between the ribs drains air and allows the lung to re-expand
• Pleurodesis: A chemical irritant injected into the chest cavity causes the lung to stick to the chest wall to prevent further collapses for pneumothorax caused by a leak
• Surgery: The lead is closed or the collapsed portion of the lung is removed in rare cases

Atherosclerosis

• This condition is the buildup of fats, cholesterol, and other substances in and on artery walls, forming plaque
• Plaque hardens and narrows arteries, reducing blood flow and stiffening arteries, making them less flexible
• Healthy arteries are flexible and expand/contract to accommodate changing blood flow needs, and have smooth walls for easy blood flow
• Plaque also can rupture and lead to blood clots
• Blood clots can completely block an artery and resulting in serious health issues

Causes of Atherosclerosis

• High cholesterol can build up in arteries, triggering the formation of plaque
• High blood pressure puts continuous force on artery walls, creating tears where plaque builds up
• Smoking weakens the artery walls and results in cracks and rough spots

Symptoms of Atherosclerosis

• This condition is commonly asymptomatic
• Fatigue/weakness occurs due to reduced blood flow to the heart or other organs
• Shortness of breath and difficulty breathing occur during physical activity (reduced blood flow to the heart)
• Chest pain or discomfort (angina) occurs when the heart does not receive enough oxygen

Treatment of Atherosclerosis

• A healthy diet with fruit and vegetables and limiting fats lowers cholesterol
• Quitting smoking also provides relief
• Medication can also help provide relief

Autonomic Dysreflexia (AD)

• In AD, a spinal cord injury disrupts smooth regulation, leading to an overreaction to stimuli below the injury level
• AD is characterized by an overreaction of the autonomic nervous system, this can cause a sudden and severe rise in blood pressure
• People who have had a spinal cord injury are most at risk (usually above the level of T6)
• Healthy people have an autonomic nervous system that remains stable and blood pressure remains within a normal range

Causes of Autonomic Dysreflexia

• Spinal cord injury: particularly above the level of T6, affects the ability of the body to regulate the autonomic nervous system properly
• Spinal cord injury: followed by stimuli below the level of the spinal cord injury, that normally would be perceived as irritating stimuli. This results in a rapid and uncontrolled increase in blood
• Vasoconstriction is a rise in blood pressure

Triggers of Autonomic Dysreflexia

• Bladder issues: distension or irritation, often due to a urinary tract infection or blocked urinary catheter
• Bowel issues: Faecal impaction or bowel distension
• Skin irritants: pressure sores, burns, ingrown toenails, or tight clothing
• Neurological conditions: Guillian Barre syndrome, multiple sclerosis, and brain injuries
• Medications: side effects of certain medications

Symptoms of Autonomic Dysreflexia

• Severe hypertension and a sudden significant increase that is usually 20-40 points above normal
• Pounding (common and often the first notable symptom)
• Profuse sweating, especially above the level of spinal cord injury
• Red, blotchy skin above the level of the spinal cord
• Pale, cold skin below the level of injury due to vasoconstriction
• Goosebumps may occur above the level of injury
• Altered heart rate, visual disturbances, nasal congestion, and muscle spasms

Treatment of Autonomic Dysreflexia

• Check for common triggers (full bladder), ensure the bladder is emptied properly or the catheter is not blocked, and check for constipation
• Inspect the skin for any irritations or pressure sores and consider if triggers can be removed
• Nitrates lower blood pressure quickly as a paste on the skin
• Nifedipine is also used to lower blood pressure
• If the cause cannot be identified or if the blood pressure remains dangerously high
• Monitor blood pressure and vital signs during and after an episode
• Follow regular bowel and bladder routines, skin care, and medication review
• Educate people at risk about common triggers and how to manage it