Family Testing

family testing

Because AAT deficiency is a hereditary disorder, testing of family members – parents, siblings, children – may be recommended for individuals diagnosed with AAT deficiency. Testing of family members is important to determine if they have AAT deficiency or if they are carriers of the disorder.

Carriers usually have enough naturally occurring AAT to protect their lungs from the destructive effects of neutrophil elastase. Most carriers suffer from no pulmonary symptoms. However, they need to follow a healthy lifestyle and be careful about exposure to lung irritants of all types, especially cigarette smoke.

You may recommend genetic and psychological counseling for your patient and their family members. Genetic counseling is important in understanding the impact of this inherited condition, including the need for evaluation of additional family members. Psychological counseling can provide the knowledge and support needed for families who have been diagnosed with a hereditary condition.

GLASSIA [Alpha1-Proteinase Inhibitor (Human)]

GLASSIA is indicated for chronic augmentation and maintenance therapy in individuals with emphysema due to congenital deficiency of alpha1-proteinase inhibitor (Alpha1-PI), also known as alpha1-antitrypsin (AAT) deficiency.

  • The effect of augmentation therapy with GLASSIA or any Alpha1-PI product on pulmonary exacerbations and on the progression of emphysema in Alpha1-PI deficiency has not been demonstrated in randomized, controlled clinical trials.
  • Clinical data demonstrating the long term effects of chronic augmentation and maintenance therapy of individuals with GLASSIA are not available.
  • GLASSIA is not indicated as therapy for lung disease in patients in whom severe Alpha1-PI deficiency has not been established.

Detailed Important Risk Information for GLASSIA

  • GLASSIA is contraindicated in IgA deficient patients with antibodies against IgA. GLASSIA is contraindicated in individuals with a history of severe immediate hypersensitivity reactions, including anaphylaxis, to Alpha1-PI products.
  • GLASSIA is made from human plasma. It may carry a risk of transmitting infectious agents, such as viruses, and theoretically, the Creutzfeldt-Jakob disease (CJD) agent.
  • Administer GLASSIA at room temperature at a rate not greater than 0.04 mL/kg body weight per minute. If anaphylactic or severe anaphylactoid reactions occur, discontinue the infusion immediately.
  • Administer GLASSIA within 3 hours of entering the vials.
  • Safety and effectiveness in patients over 65 years of age have not been established.
  • Two serious adverse reactions observed on two separate occasions during clinical studies with GLASSIA were cholangitis and exacerbation of chronic obstructive pulmonary disease (COPD).
  • The most common product-related adverse reactions in clinical studies were headache and dizziness.

Please see GLASSIA Full Prescribing Information for full prescribing details.

ARALAST NP [Alpha1-Proteinase Inhibitor (Human)]

ARALAST NP is indicated for chronic augmentation therapy in patients having congenital deficiency of A1-PI with clinically evident emphysema.

  • The effect of augmentation therapy with ARALAST NP on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin deficiency has not been demonstrated in randomized, controlled clinical trials.
  • Clinical data demonstrating the long-term effects of chronic augmentation or replacement therapy of individuals with ARALAST NP or ARALAST are not available.
  • ARALAST NP is not indicated as therapy for lung disease patients in whom congenital A1-PI deficiency has not been established.

Detailed Important Risk Information for ARALAST NP

  • ARALAST NP is contraindicated in IgA deficient patients with antibodies against IgA, due to the risk of severe hypersensitivity.
  • ARALAST NP is derived from pooled human plasma. It may carry a risk of transmitting infectious agents, e.g., viruses and theoretically, the Creutzfeldt-Jakob disease (CJD) agent.
  • The recommended rate of administration (≤0.08 mL/kg/min) should be closely followed and vital signs monitored continuously. If anaphylactic or severe anaphylactoid reactions occur, the infusion should be discontinued immediately.
  • Safety and effectiveness in patients over age 65 years of age have not been established.
  • ARALAST NP should be administered at room temperature within three (3) hours after reconstitution and should be administered alone, without mixing with other agents or diluting solutions.
  • The safety of ARALAST NP was evaluated with ARALAST in a crossover clinical PK comparability study. The most common adverse events deemed related to ARALAST NP included headache and musculoskeletal discomfort. No serious adverse reactions or deaths were reported in the study. In the ARALAST pivotal study, the most common adverse events were headache and somnolence.

Please see ARALAST NP Full Prescribing Information for full prescribing details.