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16965

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

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Last updated: 24 Dec 2024

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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.  

DOI

10.21608/ejhm.2018.16965

Authors

First Name

Sameh

Last Name

Seif

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

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First Name

Mohamed A.

Last Name

Ezzel Arab

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Affiliation

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

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First Name

Mohammad A

Last Name

.Hassanein

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-

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

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First Name

Mohamed

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El Kassas

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

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First Name

Selim

Last Name

Wadie

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-

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

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First Name

Khalid

Last Name

Zalata

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-

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Pathology Department, Faculty of Medicine, Mansoura University, Egypt

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First Name

Helmy

Last Name

El Gazzar

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-

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Clinical Pathology Department, Hearing and Speech Institute, Egypt

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Orcid

-

First Name

Mohamed

Last Name

Hassany

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-

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

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First Name

Amin

Last Name

Abdel Baki

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-

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

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Volume

39

Article Issue

1

Related Issue

3582

Issue Date

2018-04-01

Receive Date

2018-10-19

Publish Date

2018-04-01

Page Start

218

Page End

222

Print ISSN

1687-2002

Online ISSN

2090-7125

Article File

EJHM_Volume 39_Issue 1_Pages 218-222.pdf

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https://ejhm.journals.ekb.eg/article_16965.html

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https://ejhm.journals.ekb.eg/service?article_code=16965

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Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

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

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Article

Created At

22 Jan 2023