Pulmonary and Sleep Specialists in Michigan

Alpha-1 Antitrypsin Deficiency Doctor in Michigan

Alpha-1 Antitrypsin Deficiency Doctor in Oakland County and Wayne County Michigan

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can lead to lung and liver diseases. This condition impairs the ability of alpha-1 antitrypsin, an essential protein, to protect the lungs from damage caused by enzymes. In this article, we will discuss the diagnosis, symptoms, causes, treatments, prevention, and frequently asked questions regarding AATD.

How is AATD diagnosed?

The diagnosis of AATD involves a combination of clinical assessment, blood tests, and genetic testing. The most common test used to diagnose AATD is the Pi genotyping assay, which identifies the specific genetic variations associated with the condition. If suspected based on symptoms and family history, individuals should consult their healthcare provider for further evaluation and testing.

Dr. Asker Asmi, MD is a certified pulmonologist, and sleep disorders doctor in Michigan

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Dr. Asmi’s Beaumont Hospital Page
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Dr. Asmi is a Pulmonologist and sleep specialist based in Michigan that specializes in advanced COPD. He follows a multidisciplinary treatment plan that includes nutrition, medicine, lifestyle changes, damage prevention and active treatment with close follow up. Doctor Asmi’s expertise include Critical Care Medicine, Pulmonary Medicine, Pulmonary Critical Care and Sleep Medicine. Dr. Asmi is also affiliated with Beaumont Hospital and runs a private practice in Riverview, MI.

What are the symptoms of Alpha-1 Antitrypsin Deficiency?

AATD can manifest as respiratory or liver disease, or both. Respiratory symptoms include chronic obstructive pulmonary disease (COPD) with emphysema, shortness of breath, frequent lung infections, and wheezing. Liver involvement can lead to fatigue, jaundice, abdominal pain, and hepatosplenomegaly. The severity and onset of symptoms vary widely among individuals.

What causes AATD?

Alpha-1 antitrypsin deficiency is a genetic condition caused by mutations in the SERPINA1 gene. These mutations result in impaired production, transport, or function of alpha-1 antitrypsin protein. The most common variant is PiZ, which accounts for about 95% of diagnosed cases.

What are the treatments for Alpha-1 Antitrypsin Deficiency?

There are currently no cures for AATD, but treatments can help manage symptoms and prevent further progression. These include pulmonary rehabilitation, bronchodilators, corticosteroids, oxygen therapy, and augmentation therapy. Augmentation therapy involves intravenous infusions of normal alpha-1 antitrypsin protein to help protect the lungs from damage.

How can AATD be prevented?

There is no known prevention for AATD as it is a genetic condition. However, early diagnosis and prompt treatment can help minimize complications and improve outcomes. Avoiding smoking and exposure to environmental pollutants can also contribute to better lung health.

FAQs (Frequently Asked Questions)

How common is Alpha-1 antitrypsin deficiency?

Approximately 1 in 2,500 individuals have AATD.

What are the risk factors for developing AATD?

The primary risk factor is having a family history of the condition.

Can AATD be inherited from both parents?

Yes, if both parents carry the PiZ gene, there is a 25% chance their child will inherit the disorder.

How is AATD treated in infants?

In severe cases, intravenous augmentation therapy may be initiated as early as six weeks of age.