Question

1. Is Chronic obstructive pulmonary disease (COPD) hereditary? and why?

2. Is alpha-antitrypsin deficiency modifiable or non modifiable risk factor of COPD? and why?

Answer 1

CHRONIC OBSTRUCTIVE PULMONARY DISEASE

Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory lung disease that causes obstructed airflow from the lungs.

Symptoms include breathing difficulty, cough, mucus production and wheezing. It’s typically caused by long-term exposure to irritating gases or particulate matter, most often from cigarette smoke. Emphysema and chronic bronchitis are the two most common conditions that contribute to COPD. These two conditions usually occur together and can vary in severity among individuals with COPD.

1. Is Chronic obstructive pulmonary disease (COPD) hereditary? And why?

Most of the time COPD isn’t hereditary. It’s usually caused by things you’re exposed to, such as tobacco smoke or chemical fumes. Yet sometimes genes do play a role in the disease. People with the inherited condition alpha-1 antitrypsin deficiency (AATD) are born with the improper code to make the protein called alpha-1 antitrypsin. This can result in not having enough alpha-1 antitrypsin protein or having defective proteins, which may lead to COPD. A rare genetic condition called alpha-1-antitrypsin deficiency makes people very susceptible to developing COPD at a young age

2. Is alpha-antitrypsin deficiency modifiable or non modifiable risk factor of COPD? and why?

                               Alpha-1 antitrypsin (AAT) is a protein ,produced by liver, normally found in the lungs and the bloodstream. It helps protect the lungs from the damage caused by inflammation that can lead to emphysema and chronic obstructive pulmonary Disease. People whose bodies do not produce enough of this protein (AAT deficiency) are more likely to develop emphysema and to do so at a younger-than-normal age (30 to 40 years old). AAT deficiency is a rare disorder and is the only known genetic/inherited factor that increases your risk of developing COPD.

This protein normally protects the body against the enzyme neutrophil elastase. Without enough alpha-1 antitrypsin, neutrophil elastase attacks the body’s tissues—especially the lungs. The liver can also be damaged when the defective proteins clog it up. Exposure to tobacco smoke or chemicals can make AATD worse. Etiology and progression of chronic obstructive pulmonary disease (COPD) result from a complex interplay between genetic and environmental factors. .Absence or dysfunction of AAT leads to a shift in the protease–antiprotease balance in the lung and increases its susceptibility for the development of emphysema

AATD (Alpha-1 antitrypsin Deficiency) that inhibits the action of other enzymes called proteases. Proteases break down proteins as part of normal tissue repair. Alpha-1 antitrypsin protects the lungs from the damaging effects of proteases.

Alpha-1 antitrypsin deficiency results from an inherited mutation in the gene that controls production and release of the enzyme. There are many subtypes of alpha-1 antitrypsin deficiency, but in all, levels of active enzyme in the blood are insufficient, the enzyme is structurally abnormal (and thus functions poorly), or both. Whites are affected more often than blacks or people of Asian or Hispanic ancestry.

                                            An AAT deficiency test measures the level of AAT in the blood. The Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2017 clinical guidelines recommend a one-time testing for all people with COPD.