Case Arshad

8/6/2019 Case Arshad

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Personal Profile� Muhammad khayam

� Age 7 years� s/o Mir Muhammad

� Resident of Gujar khan

� Admitted on 16-05-10



Presenting complaints� High grade fever ± 2 weeks

� Yellowish discoloration of sclera� Black coloured stools ± 1 week

� Hematemesis - 4 days

� Progressive abdominal distension� Generalised edema



Past history� No significant medical/surgical history

� Birth eventfull

� Product of consanginous marriage

� Developmentally normal

� vaccinated

� 3 rd among sibship of 5

� family history of death of 1st cousin who had

unexplained CLD



On examination

� Febrile ± temp 103 µF

� Deeply jaundiced

� Pallor

� Spider nevei

� Caput medusea� Clubbing

� Liver 5 cm BCM



On examination

� Spleen 3 cm BCM

� Ascites +ve

[both shifting dullness and fluid thrill present]

� Palmer erythema

� Petechia and bruises over abdomen andlower limbs

� Pitting edema +ve



Lab work up ± CBC

± Hb 7.2 gm/dl

± TLC 14.4 x109/l

± Plts 156 x 109/l

± LFT¶s

± Bilirubin 20 u mol/l

± ALT 59 ul

± ALK.PHOAPHATE 1051 ul



± Coagulation profile

± PT 48/13

± APTT 38/36 ± S. Albumin

± 2.0 g/L

± RFT¶s

± Normal

± S. Electrolyte

± Normal



± S. cerruloplasmin

± 08 mg/dl ( 19- 57mg/dl )

± Urinary copper

± 20 umol/24 hr ( 2.3-11.0 umol/24hr )

± KF ring

± negative



� Anti nuclear antibody ±ve

� Anti smooth antibody ±ve

� Liver Kidney Microsomal Antibodies ±ve



Final diagnosis� Wilson¶s disease



Family screening� Elder sister sabreena 11 years old

� Deteriorating school performance

� Dystonia ± 1 month

� Had KF Rings on slit lamp examination



� One younger brother 5 years old

� Asymtomatic

� S. cerruloplasmin 12 mg/dl

� Also diagnosed as wilson¶s disease

� Treatment started



� 2 more siblings 12 years old &

� 3 years old

� S.cerruloplasmin normal, no KF rings



CHR O NIC LIVER DISEASE



CHR O NIC LIVER DISEASE

� Cirrhosis and its complications

� Progressive hepatic failure

��

� Chronicity is determined by ± Duration of liver disease:

� typically > 3-6 m

± Evidence of physical stigmata of CLD:� Clubbing

� Spider telangiectasia

� Hepatosplenomegaly



ETIO

LO

GY� Wilson disease

� Galactosaemia

� Hereditary Fructose Intolerance

� Biliary Atresia

� Choledochal Cyst� Total Parenteral Nutrition



ETIO

LO

GY� Viral: Hepatitis B & C

� Drugs: Isoniazid, Antimetabolites, Paracetamol

� Toxins: Indian childhood cirrhosis� Metabolic: -1-antitrypsin deficiency, Tyrosinaemia,

Haemochromatosis, Cystic Fibrosis

� Idiopatic: Autoimmune hepatitis,

hepatocellular cholestasis,

Alagille syndrome



Wilson Disease� Reduced ceruloplasmin & defective excretion of copper

� Accumulation of copper in liver, brain, kidney & cornea

� May present with almost any form of liver disease(acute, fulminant, cirrhosis, portal hypertension)

� Neurological features� Renal tubular defects

� Hemolytic anemia

� Copper accumulation in cornea (Kayser-Fleischer rings)

Dx: serum ceruloplasmin, hepatic copper content, urinary copper

� Copper chelation therapy with D-penicillamine

� Liver transplantation



Biliary atresia

� Progressive cholangiopathy

� 1 in 12000 ± 15000 live births

� Presents as neonatal cholestasis (jaundice, pale stools,dark urine)

� Hepatomegaly

� Splenomegaly secondary to portal hypertension

� USG abdomen: absent or contracted gall bladder

� Radioisotope scan: uptake by liver but no excretion� Chronic liver failure & death unless surgical intervention

� Hepatoportoenterostomy

� Liver Transplantation



Choledochal cyst� Cystic dilatation of extrahepatic biliary system

� ~ 25% present in infancy with cholestasis

� Older children present with abdominal pain,

palpable mass, jaundice

� USG abdomen, radionuclide scan

� Surgical excision of the cyst



Hereditary fructose intolerance

� Tissue accumulation of fructose-1-phosphate on fructoseingestion

� Hypoglycemia, FTT, vomiting, jaundice, hepatomegaly,

proteinuria, generalized aminoaciduria

� Death from liver failure in untreated

� Suggested by finding fructosuria

� Hypoglycemia & hypophosphatemia after i.v., fructose

loading (200 mg/kg) test� Confirmed by reduced fructose-1-phosphate aldolase in

liver

� Treatment: strict dietary avoidance of fructose



HEPATITIS B� Hepatitis B S Ag > 6 months

� Variable biochemical tests

� Congenital ( 85% rate) or acquired

� Other Markers: DNA PCR, HBe Ag, Anti-HB c ,

Anti- HB e

� 1-5% of acute attacks become chronic� 70 % cirrhosis

� HCC carcinoma ( monitor alpha fetoprotein)



HEPATITIS C� Congenital 1-10% or acquired

� Anti HCV: maternal persist up to 18

months, takes 6 weeks to show.� HCV RNA: I U

� 6 genotypes 1-6- geographically variable

and determines the response to therapy� Peg-Interferon and Ribavirin ( duration

depends on genotype)



HEPATITIS D� Co-infection with B

� Outcome similar to B



Autoimmune� 2 Types serologically

� ASMA, LKM

� Hypergammaglobuliniemia

� Elevated LFT

� Treatment: Prednisone and Azathioprine.� High relapse rate



CIRRHO

SIS� Many definitions but common theme is injury,

repair, regeneration and scarring

� NOT a localized process; involves entire liver � Primary histologic features:

1. Marked fibrosis

2. Destruction of vascular & biliary elements

3. Regeneration4. Nodule formation



DIAGNO

SIS� Definitive diagnosis is by biopsy or gross

inspection of liver

� Noninvasive methods include US, CT scan,

MRI

� Indirect evidence - esophageal varices seen

during endoscopy



Portal Hypertension (PH)

� Portal vein pressure above the normal range of 5

to 8 mm Hg� Portal vein - Hepatic vein pressure gradient

greater than 5 mm Hg (>12 clinically significant)

� Represents an increase of the hydrostatic pressure

within the portal vein or its tributaries



Sequelae of cirrhosis

� Hepatic encephalopathy

� Esophageal varices

� Portal hypertension

� Ascites

� Thrombosis of portal vein

� Infection (peritonitis)

� Carcinoma (hepatocellular)



Investigations

� Non-specific:

Liver function tests

Serum billirubin

aminotransferases

alkaline phosphatases

Serum albumin levelCoagulation profile

USG abdomen

Endoscopy



Specific investigations� HIDA scan

� Viral serology for hepatitis B & C

� ANA, anti LKM, anti smooth muscleantibodies

� IgG levels

� Serum ceruloplasmin levels and 24 hoursurinary excretion of copper

� Alpha 1 anti trypsin levels



� Delta 508 mutation analysis

� Enzyme levels for various storage disorders

� Cholangiography

� Liver biopsy



Treatment

General measures



Treatment of cholestasisMalnutrition Medium chain triglycerides

Vitamin A 10,000- 15,000 IU / day

Vitamin D 5000-8000 IU/day

Vitamin E 50-400 IU/day

Vitamin K 2.5-5 mg/day

Water soluble vitamins Twice the recommendeddose

xanthomas Ursodeoxycholic acid 15-

20mg/kg/day



Management of ascites� Salt restriction

� Prevention of spontaneous bacterial

peritonitis (pneumococcal vacccine)

� Albumin

� Diuretics



Acute Management Long term management

Variceal bleeding

Management



Treatment of encephalopathy:� Treat the precipitating cause

� Restriction of protein intake

� Laxatives for constipation

� Treat the infection



Specific treatment

Wilsons disease Pencillamine 20 mg/kg/day

Hepatitis B Interferon(5-10 MU/meter

square S/C 3times/week for

4-6 months alpha &

lamivudine

Hepatitis C Interferon alpha 3MU/mter sq. S/C 3 times/ week+

ribavarin 15mg/kg in two

divided doses or pegylated

interferon



Liver transplantation:� Ultimate and curative treatment

� > 85% success rate

� Limitations due to donor availability, cost

and expertise available



THANKS

Case Arshad

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