Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.

Seif, Sameh; Ezzel Arab, Mohamed A.; .Hassanein, Mohammad A; El Kassas, Mohamed; Wadie, Selim; Zalata, Khalid; El Gazzar, Helmy; Hassany, Mohamed; Abdel Baki, Amin

doi:10.21608/ejhm.2018.16965

Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.

Document Type : Original Article

Authors

¹ Tropical Medicine Department National Hepatology and Tropical Medicine Research Institute (NHTMRI), Cairo, Egypt.

² Internal Medicine Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt.

³ Radiology Department, National Hepatology And Tropical Medicine Research Institute, Cairo, Egypt.

⁴ Pathology Department, Faculty of Medicine, Mansoura University, Egypt

⁵ Clinical Pathology Department, Hearing and Speech Institute, Egypt

10.21608/ejhm.2018.16965

Abstract

Alpha-1antitrypsinisaproteinwith inhibitorycapabilityovertheproteolytic enzymeelastase.Sinceitsfirstdescription in1963,over100differenta1ATalleles havebeendescribed(FolchE.,etal, 2007).Themajorclinicalmanifestationsof a1ATdeficiencyrelatetothefunctionofa 1ATandwhereitismade.A1ATserves asaninhibitorofneutrophilelastase(NE), apowerful,destructiveproteolyticenzyme storedinneutrophils(CarrellR.W,etal., 1982)(JanoffA,.1985).Theliveristhe majorsiteofa1ATgeneexpression, releasing2gofa1ATintothecirculation daily.A1ATdiffusesintomostorgans, whereitprotectsextracellularstructures fromattackbyNEreleasedbyactivatedor disintegratingneutrophils.Thelower respiratorytractisparticularlyvulnerableto deficiencyofa1AT,whichnormally represents>90%oftheanti-NEprotective screenofthealveolarwalls(GadekJ.E.,et al.,1981)(Wewers,M.D.,etal.,1987) .WhenserumaIATlevelsare<11um, thereisinsufficientaIATtoprotectthe lowerrespiratorytractfromitsburdenof NE,permittingprogressivedestructionof thealveoli,whichculminatesin emphysema(Wewers,M.D.,etal.,1987). Thepathogenesisoftheliverdiseaseisless wellunderstood,butrelatestothefactthat hepatocytesarethemajorsiteofalAT synthesis,andthatcertainmutationsofthe

a1ATgenecausederangementsinthe intracellularprocessingofaIAT, culminatinginhepatocyteinjury (ErricksonS.,1986).Themostsevereform ofdeficiencyisthehomozygousexpression oftheZalleleorPI*ZZ,whenthis expressionoccurs,itaccountsfor95%of casesofseverea1ATdeficiency.The threeorgansmostcommonlyaffectedbya 1ATarethelungs,liverandskin.a1AT deficiencyisthemostfrequently recognizedgeneticriskfactorforchronic obstructivepulmonarydisease(COPD). Eventhoughitremainsunderdiagnosed,its importancecontinuestogrowinthefieldof solidorgantransplantation,accountingfor 8-9%ofalllungtransplants.A1ATisthe mostcommonmetabolicliverdisease requiringlivertransplantationinchildren.
Thepresenceofcirrhosisinalpha-1- antitrypsindeficiencyislow,approximately 2.2/100,000forZZhomozygotes.The male-to-femaleratiowas2to1.Inone- thirdofthepatientsalcoholcouldhave beenaco-adjuvantoraggravatingfactorin theliverdisease(FolchE.,etal,2007).
Wedescribeauniquecaseofa27year-old manwitha1AT,presentedwithliver cirrhosisportalveinthrombosis&multiple bonydeformities.