Treating Alpha-1
Antitrypsin Deficiency
Alpha-1 anti-trypsin (AAT) deficiency is a disease caused by too little AAT in the body. This disease primarily affects the lung, liver and skin. It can lead to emphysema in middle-aged adults and chronic obstructive pulmonary (lung) disease (COPD). It can cause cirrhosis of the liver and, in some patients, an inflammation of the fat under the skin.
Alpha-1 anti-trypsin is hereditary disease, passed on to a patient when both parents have an abnormal gene for AAT. There are many types of AAT. The most common and the most severe form is ZZ.
AAT often looks like diseases such as asthma, allergies, COPD or chronic bronchitis so misdiagnosis or late diagnosis is common. It can take years to get to the right diagnosis. Unfortunately, by the time diagnosis is made, lung or liver damage may already be present.
Clinical Presentation
In the beginning, patients often feel a little shortness of breath, but the difficulty breathing gets worse over time. Some patients also have bronchitis or asthma.
About 12–15 percent of patients with alpha-1 also have liver involvement as well. Alpha-1 is the most common form of liver disease in children and the most common genetic reason for liver transplant in pediatrics in general.
Treatment
Pharmacologic treatment options include bronchodilators to lessen airway obstruction, anti-infectives in cases of infection, and augmentation replacement therapy.
Augmentation therapy gives alpha-1 antitrypsin to patients who are lacking enough in their bodies. See Therapy and Support Medications for a list of the currently approved medications. Increasing the blood levels of alpha-1 antitrypsin is not a cure; it will not prevent or reverse lung damage. Its purpose is to slow the rate of damage and improve quality of life and survival.
Augmentation therapy requires weekly infusions of alpha-1 antitrypsin into the patient's veins. The dose is based on the patient's weight and typical infusion lasts about 60–80 minutes.
Most of the time, patients "self-infuse" and give themselves their weekly doses. Patients are taught how to infuse and can be independent in doing so. Augmentation therapy is generally well-tolerated, although some patients may note such side effects as drowsiness, dizziness, headache, cold symptoms, pain, bleeding or a warm, tingling feeling at the injection site. Gastrointestinal symptoms have been reported in a small percent of patients.
In addition to medicines, it is important to follow any physician orders for pulmonary rehabilitation. Smokers must stop smoking and all patients should avoid anything that might irritate their lings. Patients should exercise and should keep up with their flu (yearly) and Pneumococcus (every 5 years) vaccines.
Transplant
Lung transplant may become an option for patients when the medications are no longer working. For patients with liver disease, liver transplant is the only option. Augmentation therapy does not work.
Screening
It is important that family members who have symptoms know that there is a test is available to see if they have AAT. Whether anyone decides to be screened or not, it is important it is important that everyone understand their risks and at least know to make lifestyle changes.Therapy Support & Medications
Currently approved medications for treating alpha-1 include:
Your Partner
in Therapeutic Success
CoramRx maximizes compliance, minimizes complications and helps patients achieve therapeutic success in the most cost-efficient and clinically effective way possible. One week prior to each prescription dispense, you will receive a refill reminder phone call. To help ensure success with your alpha-1 therapy, your pharmacy department team member will ask a series of clinical monitoring questions related to: compliance to prescribed therapy, drug side effects, hospitalization, change in medication profile, disease status and effectiveness of prescribed therapy.
Patient Resources
The organizations listed below offer a variety of services and resources for consumers and caregivers. Please note that some organizations may charge a fee for access to services. This listing is not an endorsement of these organizations, or information they may disseminate. We strongly suggest you discuss any information you receive from these organizations with a qualified professional before making any changes in your healthcare, insurance coverage or home care provider.
Alpha-1 Advocacy Alliance — provides patient advocacy, education and information to the alpha-1 community. Services are provded at no cost to the consumer.
Alpha-1 Association — a nonprofit organization dedicated to raising awareness about alpha-1 detection, and improving the quality of life for alpha-1 consumers.
Alpha-1 Foundation — dedicated to providing leadership and resources to help increase research and improve health and detection of Alpha-1 Antitrypsin Deficiency.
Alpha1Source.com — a website dedicated to alpha-1 consumers and healthcare professionals. The site provides information on Coram's alpha-1 therapies and services including respiratory services offered by Apria Healthcare, patient education and consumer conference call recordings, and patient stories.
FDA: Disposing Unused Medication — government guidelines for disposing unused medicine. The Food and Drug Administration (FDA) worked with the White House Office of National Drug Control Policy (ONDCP) to develop the first consumer guidance for proper disposal of prescription drugs.
Learn More
- To learn more about your options for managing Alpha-1 and CoramRx, please contact us.
- To enroll as a patient with CoramRx, please complete our Patient Enrollment Form.