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home - Liver - Miscellaneous - Alpha 1 Antitryspin Deficiency Written by Dr Sebastian Zeki

Recognises the importance of sepsis as a complication
Aware of the differential diagnosis and management of sepsis and its
possible sequelae

Knows the appropriate use of the appropriate antibiotics and their
complications Aware of prevention of nosocomial infection

Understands the principles and practice of diagnosis and treatment of

Prepared to involve and liaise with specialist sepsis support



Knows the importance of clinical nutrition and its disturbances in
patients with acute and chronic liver disease

Appreciates indications for enteral or parenteral support and
understanding of limitations of these interventions

Shows ability to make careful nutritional assessment
Can liaise with nutritional support team where appropriate


Understands prognostic scoring systems including Child - Pugh
MELD UKELD Maddrey and disease-specific scoring systems where
they exist

Builds the use of accredited quantitative scoring systems into routine
clinical liver practice clinical colleagues and junior staff

Shows consistent application of evidence-based in the
evaluation of liver disease and the determination of prognosis

Alpha 1 Antitryspin Deficiency

Prognosis Depends on severity of underlying disease.Do family screening - is only for prognosis. Tests:Alpha-1-antitrypsin levels.PAS staining on hepatocytes. Things that should arouse suspicion:Emphysema FH/ in a young individual (ie, <45yr) / non or minimal smoker.Emphysema characterized by predominant basilar changes on the chest x-ray.Unexplained cirrhosis or hepatoma.Clinical findings or history of panniculitis / chronic liver disease. Alpha 1 Antitrypsin Deficiency DemographicsImplicated gene is on chromosome 14.It affects 1 in 2000 people.It results in decreased levels of alpha-1-antitrypsin. Pathogenesis of lung destruction in 1-antitrypsin deficiency.1.Activation of airway neutrophils leads to...2.The release of neutrophil elastase which remains active because of a reduced inhibitory capacity as a direct consequence of 1-antitrypsin deficiency.3. The elastase stimulates macrophages to release the chemoat-tractant leukotriene B4 (LTB4) which leads to further neutrophil recruitment.4. Recruitment of neutrophils through the interstitium causes connective tissue destruction (particularly elastin) and the area of destruction is enhanced again as a direct consequence of 1-antitrypsin deficiency.5.The net result is perpetuation and amplification of the cycle of events and tissue destruction. Phenotype Emphysema Risk Plasma level, ┬Ámol/L Commercial plasma level, mg/dL MM No increase 20-53 150-350 MZ Possible mild increase 12-35 90-210 SS No increase 15-33 100-140 SZ* Mild increase (20-50%) 8-19 75-120 ZZ High risk (80-100%) 2.5-7 20-45 Null High risk (100% by age 30) 0 0 Treatments:-IV/ aerosolized augmentation therapy.-Enhancement of endogenous alpha 1-antitrypsin production.-Gene therapy.-Liver transplant (phenotype becomes that of the new liver). Macrophage LRB4 Neutrophil recruitment Elastase Airway neutrophil Area of destruction Written by Dr Sebastian Zeki