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What is alpha-1 antitrypsin deficiency (AAT deficiency)?

Alpha-1 antitrypsin deficiency (AAT deficiency, or AATD) is an inherited condition that raises your risk for lung and liver disease. If you have this condition, your body doesn't make enough alpha-1 antitrypsin (AAT).

AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.

What causes alpha-1 antitrypsin deficiency (AAT deficiency)?

AAT deficiency is a genetic disorder. That means it's caused by changes in your genes, which may also be called gene variants or mutations.

Your genes carry information that controls what you look like and how your body works. AAT deficiency is caused by changes in the SERPINA1 gene, which carries instructions for making the AAT protein. These gene changes are inherited from your parents, so AAT deficiency tends to run in families:

If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.
If you have one mutated copy of the gene, you are a carrier of AAT deficiency. In these cases, this means you are at slightly higher risk of developing lung disease, especially if you have other risk factors, such as being a smoker. You could still pass the mutated gene on to your children.

There are a few gene changes that cause AAT deficiency. These gene changes can:

Decrease the amount of AAT protein your liver makes.
Prevent your liver from making any AAT.
Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage.

What are the symptoms of alpha-1 antitrypsin deficiency (AAT deficiency)?

Some people who have AAT deficiency do not have any symptoms. For those who do, symptoms usually appear in people between 20 and 50 years old. These symptoms may include:

Wheezing
Shortness of breath, especially after exercise
Chronic cough with phlegm (mucus)
Repeated respiratory infections such as colds and the flu
Chest pain
Fatigue
Faster-than-normal heartbeat when you stand up
Vision problems
Losing weight without trying

Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs.

Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches.

How is alpha-1 antitrypsin deficiency (AAT deficiency) diagnosed?

Your health care provider may test you for AAT deficiency if you have:

Symptoms of AAT deficiency
A condition that could be related to AAT deficiency
Relatives who have AAT deficiency
Relatives who have a lung or liver disease that could be related to AAT deficiency

AAT deficiency in babies often affects the liver. Your baby may need AAT testing if he or she has signs of liver disease such as jaundice or abnormal liver enzyme tests.

A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency.

A genetic test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test. There are two types of genetic tests:

A genotype test looks for the more common types of gene changes that can cause AAT deficiency.
A phenotype test checks for changes in the AAT protein that change how it would normally work.

If your lungs are affected, you may also have lung function tests to see how well your lungs are working.

What are the treatments for alpha-1 antitrypsin deficiency (AAT deficiency)?

There is no cure for AAT deficiency, but there are treatments to help with the symptoms and slow the lung damage it causes. Treatment options may include:

Inhaled medicines to help you breathe better.
Pulmonary rehabilitation.
Oxygen therapy.
Augmentation therapy, which is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage.
Lung surgery or a lung transplant, if your lungs are severely damaged.
Liver transplant, if your liver is severely damaged.

To help prevent or delay lung damage, it is important to quit smoking (if you smoke) and avoid secondhand smoke, dust, and air pollution. Ask your provider If you need to stop drinking alcohol.

That FDA Approved Drugs

AFINITOR [Everolimus^{C₅₃H₈₃NO₁₄}]

10mg (oral tablet)

2.5mg (oral tablet)

7.5mg (oral tablet)

Novartis^{Mar 30, 2009}

Treatment of advanced hormone receptor positive, her2-negative breast cancer in combination with exemestane after failure of treatment with letrozole or anastrozole.
Treatment of patients with progessive neuroendocrine tumors of pancreatic origin (pnet) that are unresectable, locally advanced or metastatic.
Treatment of patients with tuberous sclerosis complex (tsc) who have subependymal giant cell astrocytoma (sega) that requires therapeutic intervention but cannot be curatively resected..
Treatment of solid excretory system tumors; advanced renal cell carcinoma (rcc), after failure of treatment with sunitinib or sorafenib.

AFINITOR DISPERZ [Everolimus^{C₅₃H₈₃NO₁₄}]

2mg (oral tablet, for suspension)

3mg (oral tablet, for suspension)

5mg (oral tablet, for suspension)

Novartis Pharm^{Aug 29, 2012}

Treatment of patients with tuberous sclerosis complex (tsc) who have subependymal giant cell astrocytoma (sega) that requires therapeutic intervention but cannot be curatively resected..

AMITIZA [Lubiprostone^{C₂₀H₃₂F₂O₅}]

24mcg (oral capsule)

8mcg (oral capsule)

Sucampo Pharma Llc^{Jan 31, 2006}

Method for relieving constipation in a human patient that comprises administering to the patient a dosage unit comprising (i) 24mcg+/- 10% of a drug substance and (ii) a pharmaceutically suitable excipient.
Method for relieving constipation in a patient with opioid-induced constipation that comprises administering to the patient a dosage unit comprising(i)24microg+/- 10% of a drug substance and (ii) a pharmaceutically suitable excipient.
Method for relieving or treating constipation in a human constipated patient.
Method for relieving or treating constipation in a patient with irritable bowel syndrome.
Method for relieving or treating constipation in a patient with opioid-induced constipation.
Method for the long term treatment of chronic constipation in a human subject with irritable bowel syndrome.
Method for the long term treatment of chronic constipation in a human subject.
Method for treating constipation by opening cic channels in a mammalian subject.
Method for treating constipation in a patient with opioid-induced constipation by opening cic channels.
Method for treating irritable bowel syndrome and method for treating abdominal discomfort associated with irritable bowel syndrome.
Method for treating opioid-induced constipation.
Method of relieving or preventing constipation in a human constipated patient.
Method of relieving or preventing constipation in a human patient with opioid-induced constipation.
Method of treating constipation in a patient with irritable bowel syndrome by opening chloride channels (cic).
Method of treating constipation in a patient with irritable bowel syndrome.
Use in relieving or preventing constipation in a human patient with a dosage unit comprising 24microg+/- 10% of a drug substance and a pharmaceutically suitable excipient.
Use in relieving or preventing constipation in a patient with opioid-induced constipation with a dosage unit comprising 24microg +/- 10% of a drug substance and a pharmaceutically suitable excipient.

CALDOLOR [Ibuprofen^{C₁₃H₁₈O₂}]

800mg/8ml (100mg/ml) (intravenous solution)

Cumberland Pharms^{Jun 11, 2009}

Management of mild to moderate pain, management of moderate to severe pain as an adjunct to opioid analgesics in a critically ill patient with intravenous ibuprofen in need thereof.
Management of mild to moderate pain, management of moderate to severe pain as an adjunct to opioid analgesics, reduction in fever through anti-inflammatory, analgesic, and antipyretic activity.
Management of mild to moderate pain, management of moderate to severe pain as an adnunct to opioid analgesics, reduction in fever through anti inflammatory, analgesic, and antipyretic activity.
Methods of treating pain, inflammation and/or fever in a critically ill patient with intravenous ibuprofen in need thereof.
Methods of treating pain, inflammation and/or fever with intravenous ibuprofen such that mean arterial blood pressure does not increase the dosage interval.

CARNEXIV [Carbamazepine^{C₁₅H₁₂N₂O}]

200mg/20ml (10mg/ml) (iv (infusion) solution)

Lundbeck Pharms Llc^{Oct 7, 2016}

Replacement therapy for oral carbamazepine in adults with generalized tonic-clonic seizures.
Replacement therapy for oral carbamazepine in adults with mixed seizure patterns that include partial seizures with complex symptomatology, generalized tonic-clonic seizures, or other partial or generalized seizures.
Replacement therapy for oral carbamazepine in adults with partial seizures with complex symptomatology.

CHLORHEXIDINE GLUCONATE [Chlorhexidine Gluconate^{C₂₂H₃₀Cl₂N₁₀2C₆H₁₂O₇}]

RX / OTC

0.12% (dental solution)

4% (topical sponge)

Hi Tech Pharma^{May 7, 1996}
Lyne^{Dec 28, 1995}
Teva^{Dec 15, 1995}
Wockhardt^{Mar 3, 2004}
Xttrium^{Jun 18, 2009}
Sage Prods^{Apr 25, 2005}
Becton Dickinson^{Oct 24, 1989}

COLISTIMETHATE SODIUM [Colistimethate Sodium]

eq 150mg base/vial (injection injectable)

Emcure Pharms Ltd^{Sep 28, 2012}
Fresenius Kabi Usa^{Apr 17, 2008}
Paddock Llc^{Mar 19, 2004}
Sagent Pharms^{Feb 19, 2014}
X Gen Pharms^{Feb 26, 1999}
Xellia Pharms Aps^{May 29, 2015}

COLY-MYCIN M [Colistimethate Sodium]

eq 150mg base/vial (injection injectable)

Par Sterile Products^{Approved Prior To Jan 1, 1982}

DELATESTRYL [Testosterone Enanthate^{C₂₆H₄₀O₃}]

200mg/ml (injection injectable)

Endo Pharms^{Approved Prior To Jan 1, 1982}

ENTEREG [Alvimopan^{C₂₅H₃₂N₂O₄2H₂O}]

12mg (oral capsule)

Cubist Pharms^{May 20, 2008}

A method of treating or preventing ileus.
A method to accelerate the time to gastrointestinal recovery by administering about 12 mg of alvimopan to the patient from about 30 to 60 minutes prior to surgery.
Accelerating the time to upper and lower gastrointestinal recovery following surgeries that include partial bowel resection with primary anastomosis.
Treating a subject undergoing abdominal surgery by administering alvimopan to accelerate the time to upper and lower gastrointestinal recovery following surgeries that include partial bowel resection with primary anastomosis.

ESBRIET [Pirfenidone^{C₁₂H₁₁NO}]

267mg (oral tablet)

801mg (oral tablet)

Genentech Inc^{Jan 11, 2017}

EVOTAZ [Atazanavir Sulfate^{C₃₈H₅₂N₆O₇H₂O₄S} : Cobicistat^{C₄₀H₅₃N₇O₅S₂}]

eq 300mg base : 150mg (oral tablet)

Bristol-myers Squibb^{Jan 29, 2015}

Method for treating hiv-1 infection.
Treatment of hiv infection using a composition containing a pharmacokinetic enhancer that inhibits cytochrome p450 monooxygenase.

EXONDYS 51 [Eteplirsen]

100mg/2ml (50mg/ml) (iv (infusion) solution)

500mg/10ml (50mg/ml) (iv (infusion) solution)

Sarepta Theraps Inc^{Sep 19, 2016}

(i)treatment of duchenne muscular dystrophy; (ii)restoring/increasing functional dystrophin protein; or (iii) inducing skipping; each of (i)-(iii) in patients having a confirmed mutation of the dmd gene that is amenable to exon 51 skipping.
Restoring an mrna reading frame to induce dystrophin protein production in patients having a mutation of the dmd gene that is amenable to exon 51 skipping.
Treatment of duchenne muscular dystrophy in patients having a mutation of the dmd gene that is amenable to exon 51 skipping.

GENVOYA [Cobicistat^{C₄₀H₅₃N₇O₅S₂} : Elvitegravir^{C₂₃H₂₃ClFNO₅} : Emtricitabine^{C₈H₁₀FN₃O₃S} : Tenofovir Alafenamide Fumarate^{2C₂₁H₂₉N₆O₅PC₄H₄O₄}]

150mg : 150mg : 200mg : eq 10mg base (oral tablet)

Gilead Sciences Inc^{Nov 5, 2015}

Treatment of hiv infection using a composition containing a pharmacokinetic enhancer that inhibits cytochrome p450 monooxygenase.
Treatment of hiv infection.

KERYDIN [Tavaborole^{C₇H₆BFO₂}]

5% (topical solution)

Anacor Pharms Inc^{Jul 7, 2014}

Treatment for onychomycosis that is tinea unguium.
Treatment of onychomychosis of a toenail caused by trichophyton rubrum or trichophyton mentagrophytes.
Treatment of onychomycosis of a toenail.

LEVEMIR [Insulin Detemir Recombinant]

1000 units/10ml (100 units/ml) (subcutaneous injectable)

Novo Nordisk Inc^{Jun 16, 2005}

Levemir is a long-acting basal insulin analog that is indicated in the treatment of patients with diabetes mellitus.

LEVEMIR FLEXTOUCH [Insulin Detemir Recombinant]

300 units/3ml (100 units/ml) (subcutaneous injectable)

Novo Nordisk Inc^{Oct 31, 2013}

Levemir is a long-acting basal insulin analog that is indicated in the treatment of patients with diabetes mellitus.

NITHIODOTE [Sodium Nitrite^NO₂Na : Sodium Thiosulfate^{2NaO₃S₂5H₂O}]

300mg/10ml(30mg/ml),n/a : n/a,12.5gm/50ml(250mg/ml) (intravenous, intravenous solution, solution)

Hope Pharms^{Jan 14, 2011}

Sodium thiosulfate injection is indicated for sequential use with sodium nitrite for the treatment of acute cyanide poisoning.
Treatment of acute cyanide poisoning that is judged to be life threatening.

ONIVYDE [Irinotecan Hydrochloride^{C₃₃H₃₈N₄O₆ClH3H₂O}]

eq 43mg base/10ml (eq 4.3mg base/ml) (iv (infusion) injectable, liposomal)

Ipsen Inc^{Oct 22, 2015}

Treatment of exocrine pancreatic cancer that has progressed on gemcitabine-based therapy, in combination with 5-fluorouracil and leucovorin.
Treatment of metastatic adenocarcinoma of the pancreas that has progressed on gemcitabine-based therapy, in combination with 5-fluorouracil and leucovorin, in a patient homozygous for the ugt1a1*28 allele.
Treatment of metastatic adenocarcinoma of the pancreas that has progressed on gemcitabine-based therapy, in combination with 5-fluorouracil and leucovorin.
Treatment of pancreatic cancer that has progressed on gemcitabine-based therapy, in combination with 5-fluorouracil and leucovorin.
Treatment of pancreatic cancer.

RYTARY [Carbidopa^{C₁₀H₁₄N₂O₄H₂O} : Levodopa^{C₉H₁₁NO₄}]

23.75mg : 95mg (oral capsule, extended release)

36.25mg : 145mg (oral capsule, extended release)

48.75mg : 195mg (oral capsule, extended release)

61.25mg : 245mg (oral capsule, extended release)

Impax Labs Inc^{Jan 7, 2015}

Method of providing a therapeutically effective and stable median blood plasma level of levodopa.
Treatment of parkinson's disease, post-encephalitic parkinsonism, and parkinsonism that may follow carbon monoxide intoxication or manganese intoxication.
Treatment of parkinson's disease.
Treatment of parkinsonism that may follow carbon monoxide intoxication or manganese intoxication.
Treatment of post-encephalitic parkinsonism, and parkinsonism that may follow carbon monoxide intoxication or manganese intoxication.
Treatment of post-encephalitic parkinsonism.

SODIUM THIOSULFATE [Sodium Thiosulfate^{2NaO₃S₂5H₂O}]

12.5gm/50ml (250mg/ml) (intravenous solution)

Hope Pharms^{Feb 14, 2012}

Sodium thiosulfate injection is indicated for sequential use with sodium nitrite for the treatment of acute cyanide poisoning.
Treatment of acute cyanide poisoning that is judged to be life threatening.

STRIBILD [Cobicistat^{C₄₀H₅₃N₇O₅S₂} : Elvitegravir^{C₂₃H₂₃ClFNO₅} : Emtricitabine^{C₈H₁₀FN₃O₃S} : Tenofovir Disoproxil Fumarate^{C₁₉H₃₀N₅O₁₀PC₄H₄O₄}]

150mg : 150mg : 200mg : 300mg (oral tablet)

Gilead Sciences Inc^{Aug 27, 2012}

Treatment of hiv infection using a composition containing a pharmacokinetic enhancer that inhibits cytochrome p450 monooxygenase.
Treatment of hiv infection.

TESTOSTERONE ENANTHATE [Testosterone Enanthate^{C₂₆H₄₀O₃}]

200mg/ml (injection injectable)

Hikma Farmaceutica^{Sep 18, 2012}
Mylan Institutional^{Oct 5, 2009}
Paddock Llc^{Jun 14, 2006}
Watson Pharms Inc^{Approved Prior To Jan 1, 1982}

TRIGLIDE [Fenofibrate^{C₂₀H₂₁ClO₄}]

160mg (oral tablet)

Skyepharma Ag^{May 7, 2005}

A method of treating dyslipidemia and dyslipoproteinemia using a dosage form that can provide an effective amount of fenofibrate to a patient in a fasted state which is at least 90% of the auc amount provided by the dosage form.

TYBOST [Cobicistat^{C₄₀H₅₃N₇O₅S₂}]

150mg (oral tablet)

Gilead Sciences Inc^{Sep 24, 2014}

Treatment of hiv infection using a composition containing a pharmacokinetic enhancer that inhibits cytochrome p450 monooxygenase.

VIRAZOLE [Ribavirin^{C₈H₁₂N₄O₅}]

6gm/vial (inhalation for solution)

Valeant Pharm Intl^{Dec 31, 1985}

Use of ribavirin to increase type 1 cytokine response and suppress type 2 cytokine resp0nse to lymphocytes, including methods that take advantage of such modulation to treat infections and infestations.

XYREM [Sodium Oxybate^{C₄H₇O₃Na}]

500mg/ml (oral solution)

Jazz Pharms^{Jul 17, 2002}

A method of treating a patient with a prescription drug using an exclusive computer database in a computer system for distribution.
A method to control abuse of a sensitive drug by controlling with a computer processor the distribution of the sensitive drug via an exclusivity central pharmacy that maintains a central database.
Method of treating a patient with a prescription drug using a computer database in a computer system for distribution.
Method of treating cataplexy in patients with narcolepsy.
Method of treating excessive daytime sleepiness and/or cataplexy in narcolepsy patients with sodium oxybate when divalproex sodium is concomitantly administered..
Method of treating excessive daytime sleepiness in patients with narcolepsy.

ZINGO [Lidocaine Hydrochloride^{C₁₄H₂₂N₂OClHH₂O}]

0.5mg (intradermal system)

Powder Pharms^{Aug 16, 2007}

Zingo intradermal injection system is a drug delivery system that is capable of delivering fine dry powdered lidocaine hydrochloride monohydrate for local anesthetic action.
Zingo is a powder intradermal system that is capable of delivering fine dry powdered lidocaine hydrochloride monohydrate for local anesthetic action.

WARNING: Consult a licensed physician in the appropriate field for medical treatment and drug prescription. Do not self medicate.

WARNING: All medicines, drugs, plants, chemicals or medicial precedures below are for reference only. Many of these treatments may be harmful and possibly fatal. Do not consume any plant, chemical, drug or otherwise without first consulting a licensed physician that practices medine in the appropriate field. The owner of this website will not be held liable for any injuries and deaths cause by following any home remedies. We have no control of what is posted.

Home Remedies for That

BAD BREATH
Gargle with lemon juice. Eat plain unsweetened yogurt that contains Lactobacillus bacteria. Bad breath is neutralized for 12 to 24 hours.Sleslie | November 4th, 2017

PMS [Premenstrual Syndrome]
Eat more nuts, such as almonds, as your period approaches.
Mechanism - Riboflavins boosts neurotransmitters that reduce PMS symptomsFedup | November 5th, 2017

HEARTBURN [gastroesophageal reflux disease]
Eat a high-fiber diet that include beans.
Mechanism - Fiber helps move food out of the stomach faster reducing reflux.RudyardKipling | November 5th, 2017

Ledgend of Medicine

MODERN MEDICINES

HOME REMEDIES

RANDOM DRUGS

RANDOM AILMENTS

That

That FDA Approved Drugs

Home Remedies for That