Alpha-1 antitrypsin deficiency Flashcards
What is the nature of the problem in α-1-antitrypsin deficiency?
Elastase, a connective tissue digester, is not properly inhibited
Which organs are primarily affected in α-1-antitrypsin deficiency?
Liver & lung
How is α-1-antitrypsin deficiency inherited?
Recessive
Extra credit: Chromosome 14!
Many alleles on chromosome 14 are involved in α-1-antitrypsin deficiency (about 75). What is the name of the most severe form?
“ZZ”
If an α-1-antitrypsin deficiency patient presents in infancy, how do they present?
Neonatal jaundice & hepatitis
and sometimes acholic stools
In addition to jaundice, what else might be noted in the physical exam of an infant or a child with α-1-antitrypsin deficiency?
Hepatosplenomegaly
Is it common for α-1-antitrypsin deficiency patients to have asymptomatic intervals?
Yes
What lab abnormality is often noted during the early infancy of α-1-antitrypsin deficiency patients – even before they are diagnosed?
Persistent bilirubin elevation
due to cirrhosis/cholestasis
If an infant has cholestasis due to α-1-antitrypsin deficiency, can he or she become asymptomatic later?
Yes –
often
If α-1-antitrypsin deficiency does not present until adolescence or adulthood, how does it present?
Cirrhosis & ascites, usually
What vascular system complication(s) should you be most concerned about in α-1-antitrypsin deficiency patients?
Portal hypertension with varix formation
and impaired clotting due to liver dysfunction
In severe cases, how is the liver dysfunction of α-1-antitrypsin deficiency managed?
Liver transplant
What proportion of children with α-1-antitrypsin deficiency requires liver transplantation?
About ¼
Is it possible for a patient with α-1-antitrypsin deficiency to develop normal liver function over time?
Yes –
¼ wil
What medication is sometimes used to manage the cholestasis that goes with α-1-antitrypsin deficiency?
Ursodeoxycholic acid
