Alpha-1-antitrypsin deficiency - Clinicals, Diagnosis, and Management

Pulmonology

Clinicals - History

Fact Explanation
Positive family history This is an autosomal-dominantly inherited condition. Obstructive pulmonary disease and liver disease are common in these people. The etiology is due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver and the serum alpha1-antitrypsin level gets decreased. Positive family history
This is an autosomal-dominantly inherited condition. Obstructive pulmonary disease and liver disease are common in these people. The etiology is due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver and the serum alpha1-antitrypsin level gets decreased.
Yellowish discoloration of the skin, sclera, increased bleeding tendency for than 14 days after birth in neonates This is a cause for prolonged neonatal neonatal jaundice as it causes neonatal hepatitis. Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease. Yellowish discoloration of the skin, sclera, increased bleeding tendency for than 14 days after birth in neonates
This is a cause for prolonged neonatal neonatal jaundice as it causes neonatal hepatitis. Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease.
Yellowish discoloration of the skin, sclera Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver. The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease which manifests in children as hepatic cirrhosis or liver failure, and in adults as chronic liver disease in the 5th decade of life. Yellowish discoloration of the skin and sclera is due to deposition of excess bilirubin which is usually excreted by the liver under the skin and sclera. Yellowish discoloration of the skin, sclera
Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver. The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease which manifests in children as hepatic cirrhosis or liver failure, and in adults as chronic liver disease in the 5th decade of life. Yellowish discoloration of the skin and sclera is due to deposition of excess bilirubin which is usually excreted by the liver under the skin and sclera.
Ankle swelling As there's liver failure, this results in increased fluid accumulation in the body. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid. Ankle swelling
As there's liver failure, this results in increased fluid accumulation in the body. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid.
Abdominal swelling As there's liver failure, this results in increased fluid accumulation in the abdominal cavity. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid. Abdominal swelling
As there's liver failure, this results in increased fluid accumulation in the abdominal cavity. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid.
Increased bleeding tendency As there's liver failure, there's reduced production of clotting factors as well as vitamin K deficiency causing increased bleeding tendency. Increased bleeding tendency
As there's liver failure, there's reduced production of clotting factors as well as vitamin K deficiency causing increased bleeding tendency.
Hematemesis This is due to oesophageal varices which are opened up porto-systemic anastomosis due to portal hypertension. Hematemesis
This is due to oesophageal varices which are opened up porto-systemic anastomosis due to portal hypertension.
Alteration in the level of consciousness, Day time sleepiness These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia. Alteration in the level of consciousness, Day time sleepiness
These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia.
Cough with sputum production, and wheezing This is seen commonly in patients with alpha-1-Anti trypsin deficiency. Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver leading to reduced level of alpha-1-anti Trypsin in the blood. Therefore the protein normally seen in the alveoli of lungs is also decreased. The role of this molecule in the lung is to protect against neutrophil elastase which is a protease. These high levels of proteases can cause proteolytic destruction of alveolar walls and causes emphysema. The appearance of emphysema symptoms in smokers is earlier than in non smokers. Cough with sputum production, and wheezing
This is seen commonly in patients with alpha-1-Anti trypsin deficiency. Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver leading to reduced level of alpha-1-anti Trypsin in the blood. Therefore the protein normally seen in the alveoli of lungs is also decreased. The role of this molecule in the lung is to protect against neutrophil elastase which is a protease. These high levels of proteases can cause proteolytic destruction of alveolar walls and causes emphysema. The appearance of emphysema symptoms in smokers is earlier than in non smokers.
Dyspnea This symptom results from air way obstruction due to emphysema. As the appearance of emphysema symptoms in smokers is earlier than in non smokers this is also seen earlier in non smokers. Dyspnea
This symptom results from air way obstruction due to emphysema. As the appearance of emphysema symptoms in smokers is earlier than in non smokers this is also seen earlier in non smokers.

Clinicals - Examination

Fact Explanation
Tachypnea This is due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver leading to reduced level of alpha-1-anti Trypsin in the blood. Therefore the protein normally seen in the alveoli of lungs is also decreased. The role of this molecule in the lung is to protect against neutrophil elastase which is a protease. These high levels of proteases can cause proteolytic destruction of alveolar walls and causes emphysema and increases respiratory work causes increases respiratory rate. Tachypnea
This is due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver leading to reduced level of alpha-1-anti Trypsin in the blood. Therefore the protein normally seen in the alveoli of lungs is also decreased. The role of this molecule in the lung is to protect against neutrophil elastase which is a protease. These high levels of proteases can cause proteolytic destruction of alveolar walls and causes emphysema and increases respiratory work causes increases respiratory rate.
Accessory muscles used in respiration This is also due to increased respiratory work due to emphysema. Accessory muscles such as scalene, sternocleidomastoid and intercostal muscle retraction is seen Accessory muscles used in respiration
This is also due to increased respiratory work due to emphysema. Accessory muscles such as scalene, sternocleidomastoid and intercostal muscle retraction is seen
Pursed-lip breathing Emphysema results in air flow obstruction Pursed-lip breathing
Emphysema results in air flow obstruction
Rhonchi on auscultation This is also due to air flow obstruction due to emphysema Rhonchi on auscultation
This is also due to air flow obstruction due to emphysema
Pulsus paradoxus. This is also due to air flow obstruction due to emphysema which results in increased fall (>10 mmHg) in systolic blood pressure and pulse wave amplitude during inspiration Pulsus paradoxus.
This is also due to air flow obstruction due to emphysema which results in increased fall (>10 mmHg) in systolic blood pressure and pulse wave amplitude during inspiration
Barrel chest Patients with milder forms will not exhibit this sign but chronic emphysema causes hyperinflation of the chest and results in barrel shaped chest Barrel chest
Patients with milder forms will not exhibit this sign but chronic emphysema causes hyperinflation of the chest and results in barrel shaped chest
Increased resonance percussion note Hyperinflation results in increased percussion note on percussion Increased resonance percussion note
Hyperinflation results in increased percussion note on percussion
Decreased breath sound Hyperinflation results in this Decreased breath sound
Hyperinflation results in this
Distant heart sounds. As lungs are hyperinflated, this obscures the heart and heart sounds are barely audible. Distant heart sounds.
As lungs are hyperinflated, this obscures the heart and heart sounds are barely audible.
Yellowish discoluration of skin and sclera Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver. The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease which manifests in children as hepatic cirrhosis or liver failure, and in adults as chronic liver disease in the 5th decade of life. Yellowish discoloration of the skin and sclera is due to deposition of excess bilirubin which is usually excreted by the liver under the skin and sclera. . Yellowish discoluration of skin and sclera
Due to the genetic alteration of the alpha1-antitrypsin molecule which is a protein produced in the liver. Because of the defect in the protein it doesn't get released from the liver. The accumulation of excess alpha1-antitrypsin in liver causes destruction of liver cells and ultimately clinical liver disease which manifests in children as hepatic cirrhosis or liver failure, and in adults as chronic liver disease in the 5th decade of life. Yellowish discoloration of the skin and sclera is due to deposition of excess bilirubin which is usually excreted by the liver under the skin and sclera. .
Hepatomegaly There's enlargement of the liver in the initial phase of cirrhosis even though later it gets shrunken Hepatomegaly
There's enlargement of the liver in the initial phase of cirrhosis even though later it gets shrunken
Spider naevi These are thought to be due to altered oestrogen metabolism in liver failure. Spider naevi
These are thought to be due to altered oestrogen metabolism in liver failure.
Petechiae As there's liver failure, there's reduced platelets results in petechiae Petechiae
As there's liver failure, there's reduced platelets results in petechiae
Bilateral pitting ankle odema As there's liver failure, this results in increased fluid accumulation in the body. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid. Bilateral pitting ankle odema
As there's liver failure, this results in increased fluid accumulation in the body. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid.
Ascitis As there's liver failure, this results in increased fluid accumulation in the abdominal cavity. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid. Ascitis
As there's liver failure, this results in increased fluid accumulation in the abdominal cavity. Reduced albumin production by the liver, which causes reduced oncotic pressure, Increased hydrostatic pressure at the venule end due to portal hypertension, are some of the contributory factors for this extravasation of fluid.
Gynaecomastia, Shrunken testicles These are thought to be due to altered oestrogen metabolism ans accumulation of oestrogen in the body due to liver failure. Gynaecomastia, Shrunken testicles
These are thought to be due to altered oestrogen metabolism ans accumulation of oestrogen in the body due to liver failure.
Caput medusae These are dilated veins around the umbilicus which is due to portal hypertension resulting in opening up of porto-systemic shunts. Caput medusae
These are dilated veins around the umbilicus which is due to portal hypertension resulting in opening up of porto-systemic shunts.
Flapping tremors, Asterixis These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia. Flapping tremors, Asterixis
These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia.
Reduced level of consciousness These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia. Reduced level of consciousness
These are symptoms of hepatic encephalopathy. This is due to altered balance of neurotransmitters in the brain particularly Ammonia.

Investigations - Diagnosis

Fact Explanation
Serum alpha1-antitrypsin level This test is done for the daignostic purpose as well as to assess the severity of the disease. Serum alpha1-antitrypsin level
This test is done for the daignostic purpose as well as to assess the severity of the disease.
Phenotyping Phenotyping is the confirmatory investigation and done by isoelectric focusing (IEF) and mainly done in patients whose serum levels are inconclusive. Phenotyping
Phenotyping is the confirmatory investigation and done by isoelectric focusing (IEF) and mainly done in patients whose serum levels are inconclusive.
Functional assay of alpha1-antiprotease When serum level test results are normal, but still symptoms are seen, this test is carried out. The basis of this is to assess the ability of patient's serum to inhibit human leukocyte elastase. Functional assay of alpha1-antiprotease
When serum level test results are normal, but still symptoms are seen, this test is carried out. The basis of this is to assess the ability of patient's serum to inhibit human leukocyte elastase.
Molecular diagnosis (Genotyping) DNA amplification techniques are used to get the molecular diagnosis Molecular diagnosis (Genotyping)
DNA amplification techniques are used to get the molecular diagnosis
Liver function tests Liver function tests are important as these patients are likely to have liver disease Liver function tests
Liver function tests are important as these patients are likely to have liver disease
Pro thrombin time and international normalized ratio PT-INR is done as they have liver disease Pro thrombin time and international normalized ratio
PT-INR is done as they have liver disease
Chest radiography In a chest x-ray hyperlucency is appreciated but some areas can be affected more than others. As normal vasculature is not seen these hyperlucent areas are also oligemic Chest radiography
In a chest x-ray hyperlucency is appreciated but some areas can be affected more than others. As normal vasculature is not seen these hyperlucent areas are also oligemic
High-resolution CT scanning- Chest Loss of lung tissue causes hypoattenuation also number and the size of pulmonary vessels are low. High-resolution CT scanning- Chest
Loss of lung tissue causes hypoattenuation also number and the size of pulmonary vessels are low.
CT of abdomen This can show hepatomegaly or changes associated with cirrhosis and also hepatocellular carcinoma CT of abdomen
This can show hepatomegaly or changes associated with cirrhosis and also hepatocellular carcinoma
Lung function tests Spirometry is carried out to measure forced vital capacity (FVC) and forced expired volume per 1 second (FEV1) to evaluate a patient with respiratory symptoms. Determination of lung volume, diffusing capacity is also done. Lung function tests
Spirometry is carried out to measure forced vital capacity (FVC) and forced expired volume per 1 second (FEV1) to evaluate a patient with respiratory symptoms. Determination of lung volume, diffusing capacity is also done.
Lung biopsy Permanent enlargement of the alveoli distal to the terminal bronchioles with destruction of bronchiolar walls is seen. Fibrosis may either be present or absent Lung biopsy
Permanent enlargement of the alveoli distal to the terminal bronchioles with destruction of bronchiolar walls is seen. Fibrosis may either be present or absent
Liver biopsy This may show cirrhotic changes. Liver biopsy
This may show cirrhotic changes.

Investigations - Management

Fact Explanation
Liver function tests Regular evaluation of liver function are recommended as there's a risk of chronic lever cell disease later Liver function tests
Regular evaluation of liver function are recommended as there's a risk of chronic lever cell disease later
Lung function tests Annual lung function tests are done to determine whether replacement therapy or transplantation is needed. Lung function tests
Annual lung function tests are done to determine whether replacement therapy or transplantation is needed.
Ultrasound scan- Abdomen In a patient with chronic liver cell disease, ultrasound monitoring every 6-12 months is done to detect appearance of hepatocellular carcinoma. Ultrasound scan- Abdomen
In a patient with chronic liver cell disease, ultrasound monitoring every 6-12 months is done to detect appearance of hepatocellular carcinoma.
Alpha Feto protein level As these patients are likely to develop hepatocellular carcinoma this level is done periodically. Alpha Feto protein level
As these patients are likely to develop hepatocellular carcinoma this level is done periodically.
Full blood count To exclude any anemia, and low platelets (due to liver failure) prior to surgery. Full blood count
To exclude any anemia, and low platelets (due to liver failure) prior to surgery.
Coagulation studies including Prothrombin time and international normalization ratio (PT-INR) To exclude any coagulation defects. As there's liver failure, PT-INR is likely to be prolonged. Therefore correction should be done prior to surgery Coagulation studies including Prothrombin time and international normalization ratio (PT-INR)
To exclude any coagulation defects. As there's liver failure, PT-INR is likely to be prolonged. Therefore correction should be done prior to surgery
Renal function tests- Serum creatinine, Blood urea nitrogen To exclude any renal dysfunction prior to anesthesia. And also to exclude hepato-renal syndrome prior to transplantation. Renal function tests- Serum creatinine, Blood urea nitrogen
To exclude any renal dysfunction prior to anesthesia. And also to exclude hepato-renal syndrome prior to transplantation.
Serum albumin As there's liver failure, production of Albumin is low and low albumin is likely to cause delay in wound healing after surgery Serum albumin
As there's liver failure, production of Albumin is low and low albumin is likely to cause delay in wound healing after surgery
Lung function tests Lung function tests should be done prior to anesthesia to evaluate respiratory system, as there patients are likely to have defective lung function tests due to disease. This is also important to exclude hepato-pulmonary syndrome before liver transplantation. Lung function tests
Lung function tests should be done prior to anesthesia to evaluate respiratory system, as there patients are likely to have defective lung function tests due to disease. This is also important to exclude hepato-pulmonary syndrome before liver transplantation.
Echocardiography As liver transplantation and lung transplantation are major surgeries cardiac evaluation is also done. Echocardiography
As liver transplantation and lung transplantation are major surgeries cardiac evaluation is also done.
Hepatitis screen This is done prior to liver transplantation. Hepatitis screen
This is done prior to liver transplantation.
CT- abdomen with contrast This is to determine hepatic artery
and portal vein anatomy and the presence of hepatocellular carcinoma (HCC) prior transplantation.
CT- abdomen with contrast
This is to determine hepatic artery
and portal vein anatomy and the presence of hepatocellular carcinoma (HCC) prior transplantation.
Cardio-Pulmonary exercise testing To assess cardiac function prior to surgery Cardio-Pulmonary exercise testing
To assess cardiac function prior to surgery
Serum Alpha-1 Anti Trypsin level This is done as a screening test in patients with family history of alpha-1-anti trypsin deficiency. Serum Alpha-1 Anti Trypsin level
This is done as a screening test in patients with family history of alpha-1-anti trypsin deficiency.
Phenotyping When serum level test results are inconclusive, phenotyping is done. Phenotyping
When serum level test results are inconclusive, phenotyping is done.
Serum bilirubin This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level and also in MELD score. Serum bilirubin
This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level and also in MELD score.
Serum creatinine This is included in MELD score (Model For End-Stage Liver Disease) to to quantify end-stage liver disease for transplant planning Serum creatinine
This is included in MELD score (Model For End-Stage Liver Disease) to to quantify end-stage liver disease for transplant planning
Serum Albumin This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level. Serum Albumin
This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level.
Prothromin time and international normalization ratio This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level. Prothromin time and international normalization ratio
This is included in Child-Pugh score (sometimes the Child-Turcotte-Pugh score) which is used to assess the prognosis of chronic liver disease depending on the level.

Management - Supportive

Fact Explanation
Patient education Patient education is very important as this is a life long disease and mainly management relies on slowing the progression of lung disease and patient should be educated on this. Quitting smoking plays a major role and the patient should be educated about the serious consequences of smoking and referral to group therapy, nicotine replacement patches may be helpful. In addition to that they should be educated on the available treatment options and the importance of follow up for complications. Patient education
Patient education is very important as this is a life long disease and mainly management relies on slowing the progression of lung disease and patient should be educated on this. Quitting smoking plays a major role and the patient should be educated about the serious consequences of smoking and referral to group therapy, nicotine replacement patches may be helpful. In addition to that they should be educated on the available treatment options and the importance of follow up for complications.
Improving lung function with bronchodilators Many bronchodilator drugs such as short-acting beta-adrenergic agents and ipratropium bromide are used in the form of metered dose inhalors. Long-acting inhaled beta-adrenergic drugs and anticholinergics may also have a role but they have not been studied yet Improving lung function with bronchodilators
Many bronchodilator drugs such as short-acting beta-adrenergic agents and ipratropium bromide are used in the form of metered dose inhalors. Long-acting inhaled beta-adrenergic drugs and anticholinergics may also have a role but they have not been studied yet
Improving lung function with steroids Steroids given as inhalors can help control symptoms but oral corticosteroids are only given when respiratory symptoms get worse with cough and sputum production. Improving lung function with steroids
Steroids given as inhalors can help control symptoms but oral corticosteroids are only given when respiratory symptoms get worse with cough and sputum production.
Improving lung function with Theophylline Theophyllines may be helpful as they help to relieve air way obstruction.. Improving lung function with Theophylline
Theophyllines may be helpful as they help to relieve air way obstruction..
Prevention of respiratory infections Annual influenza, Pneumococcal vaccines help to combat against respiratory infections. Antibiotics can be given when there is increased cough with purulent sputum. Prevention of respiratory infections
Annual influenza, Pneumococcal vaccines help to combat against respiratory infections. Antibiotics can be given when there is increased cough with purulent sputum.
Pulmonary rehabilitation This is carried out as a multi disciplinary approach to maintain optimum quality of life of the patient. Patient education, regular physical exercise is helpful with chest physiotherapy to remove sputum. Nutritional status should be optimized and psychological support also plays a big role. Pulmonary rehabilitation
This is carried out as a multi disciplinary approach to maintain optimum quality of life of the patient. Patient education, regular physical exercise is helpful with chest physiotherapy to remove sputum. Nutritional status should be optimized and psychological support also plays a big role.
Oxygen therapy Oxygen supplementation has known to increase survival in these patients as it increases exercise tolerance, reduces shortness of breath on exertion, and improves sleep. Oxygen via a face mask, or nasal cannula may help. Oxygen therapy
Oxygen supplementation has known to increase survival in these patients as it increases exercise tolerance, reduces shortness of breath on exertion, and improves sleep. Oxygen via a face mask, or nasal cannula may help.
Diet and activity As there's increased protein catabolism in these patients improving diet and nutritional status may help as well. Even though dyspnea limits activity they are encouraged to have regular physical exercise to their limit. Diet and activity
As there's increased protein catabolism in these patients improving diet and nutritional status may help as well. Even though dyspnea limits activity they are encouraged to have regular physical exercise to their limit.
Liver failure regime When the patient goes into liver failure as a result of chronic liver cell disease, the regime includes ACE inhibitors, Furosemide as diuretics, Lactulose, Serum albumin and low salt diet. Liver failure regime
When the patient goes into liver failure as a result of chronic liver cell disease, the regime includes ACE inhibitors, Furosemide as diuretics, Lactulose, Serum albumin and low salt diet.
Vaccination Vaccination against common blood borne infections such as Hepatitis B,C may be necessary as these patients are likely to receive enzyme replacement therapy which is a plasma derived product Vaccination
Vaccination against common blood borne infections such as Hepatitis B,C may be necessary as these patients are likely to receive enzyme replacement therapy which is a plasma derived product
New born screening/ Prenatal diagnosis This is now available and this helps in genetic counseling when a prenatal diagnosis is made. Newborn screening helps to plan the management from early life and reduce complications. New born screening/ Prenatal diagnosis
This is now available and this helps in genetic counseling when a prenatal diagnosis is made. Newborn screening helps to plan the management from early life and reduce complications.

Management - Specific

Fact Explanation
Enzyme replacement therapy Prolastin, which is a purified, human plasma protein concentrate replacement is given for these patients. Inhalation form of Prolastin is still under testing. Enzyme replacement therapy
Prolastin, which is a purified, human plasma protein concentrate replacement is given for these patients. Inhalation form of Prolastin is still under testing.
Gene therapy Genetic repair of the abnormal gene product is also under testing. Gene therapy
Genetic repair of the abnormal gene product is also under testing.
Volume-reduction surgery of the lung These patients have air trapping and when lung volume is reduced, there can be improvement in the symptoms. Volume-reduction surgery of the lung
These patients have air trapping and when lung volume is reduced, there can be improvement in the symptoms.
Lung transplantation when all other treatment are failed in patients with high risk of death, but apparently healthy, lung transplantation may be beneficial. Lung transplantation
when all other treatment are failed in patients with high risk of death, but apparently healthy, lung transplantation may be beneficial.
Liver transplantation This is the definitive treatment for advanced liver disease Liver transplantation
This is the definitive treatment for advanced liver disease
All trans retinoic acid therapy Administration of ATRA is thought to reverse the emphysematous changes in the lung All trans retinoic acid therapy
Administration of ATRA is thought to reverse the emphysematous changes in the lung
Hyaluronic acid therapy Reduced levels of hyaluronic acid in their lungs is seen in these patients. Therefore treatment with this may be beneficial. Hyaluronic acid therapy
Reduced levels of hyaluronic acid in their lungs is seen in these patients. Therefore treatment with this may be beneficial.
Antioxidants, such as vitamins A, C and/or E These are also still under studying to use treatments for emphysema. Antioxidants, such as vitamins A, C and/or E
These are also still under studying to use treatments for emphysema.

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