Alpha 1 Antitrypsin Deficiency

Pulmonary disorders are predominantly associated with factors that contribute to the onset of the disease. The alpha 1 antitrypsin deficiency is a significant factor that acts a precursor for many pulmonary disorders. Majority of the deaths caused due to chronic pulmonary obstructive disease have been associated with the alpha 1 antitrypsin deficiency. In addition to pulmonary disorder, alpha 1 antitrypsin deficiency is also reported to have an impact on the liver causing obstruction and cancers.

Alpha 1 antitrypsin deficiency was discovered by Laurell and Erickson in the year 1963. Their studies on the disease paved the foundation for identifying the pathogenesis leading to emphysema. Alpha 1 antitrypsin deficiency is a genetic disorder. Alpha 1 antitrypsin is a protein that is synthesized in the liver. It is distributed through the bloodstream to facilitate protection of the lungs in preventing attacks caused by other proteins in the body. The incidence of alpha 1 antitrypsin deficiency begins when the respective protein molecules have a defined shape after their production from the liver. Such protein molecules are blocked and do not enter the bloodstream thereby leaving the target region lungs susceptible to conditions such as emphysema.

Clinical manifestations of Alpha 1 Antitrypsin Deficiency

The onset of alpha 1 antitrypsin deficiency occurs at the age of thirty. Since it is a genetic disorder patients who have a history of their parents carrying the respective deficiency are more susceptible. The alpha- 1 antitrypsin deficiency symptoms are predominantly associated with shortness of breath and the inability to exercise. Decreased alpha 1 antitrypsin in the lungs leaves the pulmonary region more susceptible to proteins such as neutrophil elastase which has catastrophic effect on the alveoli.

Accumulation of the alpha- 1 antitrypsin protein in the liver because of its abnormal shape during the production causes damage to the liver tissue leading to serious conditions such as cirrhosis. Wheezing and chronic obstructive pulmonary disease (COPD) are quite common. Alpha- 1 antitrypsin deficiency is also reported to cause a skin disorder called panniculitis in which the white blood cell concentration increases resulting in painful lumps under the skin.

Diagnosis of Alpha-1 Antitrypsin Deficiency

The diagnosis of alpha- 1 antitrypsin deficiency is done by examining the history of the patient. This provides the foundation to identifying genetic involvement in the transmission of the disease. Patients having a history of asthma, chronic liver disease and COPD are taken as possible cases for alpha- 1 antitrypsin deficiency. Initial diagnosis is done by radiological examination of lungs and associated tissues. The observations are correlated with Liver function test and clotting studies. Phenotypic and genotypic determination of the disorder is also done as a diagnostic step in studying the disease on a molecular level.

Treatment of Alpha-1 Antitrypsin Deficiency

Though alpha- 1 antitrypsin deficiency is a genetic disorder, the treatment options recommended for it are associated with the lifestyle of the person; especially people who smoke and consume alcohol in large amounts. Smoking and alcohol consumption is strictly prohibited as it aggravates the condition. In case of pulmonary and liver impairments, necessary drugs are prescribed to heal the scarred tissue. Patients are advised to avoid dust, and inhalation of harmful fumes. Exercises for breathing and cardiovascular activity are recommended to increase the endurance of the pulmonary muscles and to fight shortness of breath.

Cylindrical Bronchiectasis

Bronchiectasis is an inflammatory condition of the bronchus present in the lungs. It is caused because of a preexisting lung infection. It was first identified by Laennec in 1819. The symptoms associated with it are categorized by persistent exacerbation. There are three predominant forms of bronchiectasis - cylindrical, varicose and cystic respectively. Bronchiectasis is one of the causes associated with chronic obstructive pulmonary disease. Bronchiectasis occurs at a specific location initially and then the locus of the inflamed tissue progresses to other parts.

Bronchiectasis is caused by damage to the bronchiolar tissue. The inflammation weakens the elasticity of the respective tissue causing muscular damage and eventually weakens the bronchial walls. A scarred tissue is the evidence of its onset and this leads to conditions such as edema and secondary microbial infections which further damage the parenchymatic tissue of the bronchus. In case of cylindrical bronchiectasis the bronchus becomes enlarged because of the inflammation and appears cylindrical. It is also called tram track appearance and signet ring appearance referring to the dilation caused in the bronchus. Radiological findings of cylindrical bronchiectasis indicate that the diameter of the luminary air way becomes more than the vessels adjacent to it.

The secondary microbial infections in bronchiectasis are caused by atypical forms of Mycobacteria, Klebsiella pneumonia, Staphylococcus species predominantly aureus and also plasma. Pertussis, Respiratory syncytial and influenza viruses also cause much damage in the form of secondary infections. In some cases, aspirations have also been reported to cause bronchiectasis especially associated with food particles. In addition to these, bronchiectasis can occur because of several acquired and congenital reasons such as Young's syndrome, alpha 1 antitrypsin deficiency and allergic bronchitis associated with aspergillosis.

Diagnosis of Bronchiectasis

Many factors contribute to its occurrence which also includes lifestyle patterns such as stress and smoking. These factors damage the bronchial tissue thus leading to the onset of the obstructive disease. Patients suffering from bronchiectasis of any form suffer symptoms such as purulent cough which persists for a long time, low grade fever, weight loss in case associated with tuberculosis, edema and fatigue.

Radiology helps in identifying the type of bronchiectasis which can be clinically correlated with the associated microbial infection. Specificity of cylindrical bronchiectasis is identified by the presence of dilated bronchus (increased luminary space) with inflammation. Patient history examination is also necessary to identify congenital pulmonary abnormalities.

Treatment of Bronchiectasis

Bronchiectasis patients are treated with standard anti-inflammatory and antimicrobial regimens. The prognosis is closely associated with change of lifestyle. Complications include pneumothorax, persistent hospital acquired pneumonia, antimicrobial resistance, lung abscesses and emphysema.

Emphysema

A long term progressive disease of the lung, emphysema occurs when the alveolar walls of the lungs are destroyed. This reduces the total area within the lung where blood and air can come together thus limiting the possibility of oxygen and carbon dioxide transfer. Emphysema is grouped under COPD because this condition can destroy the lung tissue around the bronchioles (tiny airways) thus preventing them from holding on to their functional shape upon exhalation. This will cause permanent damage to the tiny air sacs.

Emphysema is common in people aged 50 and older. A few, with inherited emphysema may develop the condition in their early thirties or forties. Men are more susceptible to emphysema than women but recent times have seen an increase in female cases as the number of female smokers has gone up considerably. Smoking and Alpha-1 Antitrypsin Deficiency are the main causes for emphysema.

• Lungs do not contract to fullest extent because they lose their elasticity. This in turn stops the alveoli from deflating completely thereby making exhalation difficult.
  
  
• As complete exhalation has not happened, the next breath starts off with more air in the lungs.
  
  
• The entrapped old air takes up space. This prevents the alveoli from taking in enough fresh air as required so as to supply the required oxygen to the body.
  
  
• Shortness in breath while exerting a lot is reported commonly by patients with emphysema. People with advanced emphysema feel shortness in breath even while at rest.
  
  

Emphysema symptoms

• Shortness of breath while at rest
  
• Coughing
  
• Wheezing
  
• Difficulty to breath
  
• Skin turns bluish
  
• Excess mucus production
  

Emphysema diagnosis

• Studying medical history of patient
  
• Physical/clinical examination
  
• Chest x-ray
  
• Medical imaging like CT scan of the chest
  
• Laboratory tests (blood)
  
• Lung function test
  

There is no permanent cure for emphysema. Treatment aims at slowing the development of the disease condition and reduce the symptoms. Medications are prescribed for relieving symptomatic conditions. Patients suffering this condition must stop smoking.

Tags: #Alpha 1 Antitrypsin Deficiency #Cylindrical Bronchiectasis #Emphysema