Alpha-1 Antitrypsin Deficiency

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

SERPINA1, ELANE, COPD, SERPINA3, SERPINA13P, HFE, ELN, CRP, SERPING1, CAT, A2M, TNF, ADRA1D, OTOA, TWIST1, UBB, VWF, PLF, TFEB, MSC, TGM5, HERPUD1, SCO2, MAN1B1, ATF6, ACAD8, SFXN1, EYS, TMBIM4, DNAJB11, IL17D, SVIP, KLF10, FEV, SELENOS, MYDGF, UGGT1, IL27, HAMP, GCNA, MYO15A, PROP1, TGFB1, CELA1, AAVS1, ACADVL, AMELX, AMFR, ATD, ATP7B, BPI, KLF9, CFTR, CHRNA3, CYP21A2, DBP, ACE, GC, TERT, GSTP1, HADHA, IL10, IDO1, IREB2, MMP12, MPO, MVK, NPC1, SERPINA5, PIM1, PRTN3, SMS, TLX1NB

Drugs

Alpha-1 antitrypsin (inhalation use), Alpha-1 proteinase inhibitor, Alpha-1 proteinase inhibitor (inhalation use)

Alpha-1 antitrypsin (inhalation use), Alpha-1 proteinase inhibitor, Alpha-1 proteinase inhibitor (inhalation use), Cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-lysyl-L-tyrosyl-D-prolyl-L-prolyl-(2S)-2-aminodecanoyl-L-alpha-glutamyl-L-threonyl] acetate salt, Human alpha 1-antitrypsin ( ALFALASTIN, ARALAST ), Human alpha1-proteinase inhibitor (respiratory use), N-acetylgalactosamine-conjugated synthetic double-stranded oligomer specific to serpin family A member 1 gene, Recombinant adeno-associated viral vector containing human alpha-1 antitrypsin gene, Recombinant human alpha-1-antitrypsin (respiratory use), Synthetic double-stranded oligomer specific to the SERPINA1 gene and containing a cholesterol-conjugated, acyclic nucleobase analogue, Synthetic double-stranded siRNA oligonucleotide directed against SERPINA1 mRNA and containing four modified nucleosides which form a ligand cluster of four N-acetylgalactosamine residues

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Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Lung (pulmonary) problems almost always occur in adults, whereas liver and skin problems may occur in adults and children. The age symptoms begin and severity of symptoms can vary depending on how much working alpha-1 antitrypsin protein (AAT) a person has. Symptoms may include shortness of breath and wheezing, repeated infections of the lungs and liver, yellow skin, feeling overly tired (fatigue), rapid heartbeat when standing, vision problems, and weight loss. However, some people with AATD do not have any problems.

AATD is caused by changes (pathogenic variants, also called mutations) in the SERPINA1 gene and it is inherited in a codominant manner. The genetic changes cause too little or no working alpha-1 antitrypsin protein (AAT) to be made. AAT is made in the liver cells and sent through the bloodstream to the lungs where it helps protect the lungs from damage. Having low levels of AAT (or no AAT) may allow the lungs to become damaged. A build-up of abnormal AAT can cause liver damage. Diagnosis may be suspected by finding low levels of AAT in the blood and confirmed by genetic testing. Treatment may include infusions of AAT. Other treatment depends on the type and severity of the person's medical problems, but may include bronchodilators to open airways, antibiotics for upper respiratory tract infections, and in severe cases, lung transplantation or liver transplantation.