INFORMATION ON  ALAGILLE's  SYNDROME :-

Alagille's Syndrome Is An Inherited Disorder That Mimics Other Forms Of Prolonged Liver Disease Seen In Infants And Young Children. Alagille's Syndrome Is Generally Inherited Only From One Parent. Each Affected Adult Or Child May Have All Or Only A Few Of The Features Of The Syndrome.

Alagille's Occurs Approximately Once In Every 100,000 Live Births With Equal Incidence Between Girls And Boys. For A Couple Who Already Have An Affected Child, The Risk Of A Further Child Being Affected Are 1 In 30 If Neither Parent Has Any Signs, And 1 In 10 If One Of The Parents Has Signs Of The Syndrome.

Synoms Of Alagille’s Syndrome:-

1. Arteriohepatic Dysplasia
2. Syndromatic Ductopenia.

Cause Of Alagille Syndrome:-

The Main Cause Of Alagille’s Syndrome Is Inherited Disorder Which Results In The Flow Of Bile Within Liver.

Symptoms Of Alagille's Syndrome:-
The Abnormality Of The Bile Ducts Causes Chronic Cholestatsis Which Means Reduced Amounts Of Bile Are Produced And Passed From The Liver To The Bowel. This Can Range From Mild To Severe. This In Turn Causes:
1. Jaundice - Appearance Of The Skin And Sclera Becomes Yellow Of That Does Not Improve Within 1 To 2 Weeks.
2. Urine - Very Dark Yellow Or Brown
3. Stools - Appear Pale Or Clay-Colored (Acholic). Enlarged Liver - Feels Larger And Harder Than Normal.
4. Poor Weight Gain – Newly Born Babies Is Not Gaining Weight.
5. Enlarged Spleen – Improper Functioning Of The Liver May Leads To This Consequence.

Diagnosis Of Alagille Syndrome:-

Diagnosis Is Difficult In The Young Baby When The Condition Is Very Similar To Other Forms Of Liver Disease (Biliary Atresia). However There Are Other Features Associated With Alagille's Syndrome Which Help Establish The Diagnosis. These Include Abnormalities In The Cardiovascular System, The Spinal Column, The Eye And The Kidneys.

Any One Or A Combination Of The Following May Be Required To Establish A Diagnosis Of Alagille's Syndrome.
1. Blood Tests - Should Include Cbc (Complete Blood Count), Lfts (Liver Function Tests) And Pt/Ptts (Blood Clotting Factors).
2. Liver Biopsy- Removal And Examination Of A Small Sample Of Liver Tissue.
3. Ultrasound - Identifies Any Obvious Abnormalities In The Liver And Other Organs.
4. Nuclear Scan - Determines How Much, If Any, Bile Is Flowing From The Liver.
5. Exploratory Surgery - Performed To Examine The Liver And Bile Ducts.

Prevention Of Alagille’s Syndrome:-

Prevention Of Alagille’s Syndrome Can Be Done By Two Ways:-
1. Medicinal Treatment
2. Operational Treatment.

Medicinal Treatment of Alagille’s Syndrome:-

• Correction Of Vitamin Deficiencies With Appropriate Vitamin Dosage Is Important For Optimal Growth And Development. Water Miscible Forms Of Vitamins A, D, E, And K Frequently Are Poorly Absorbed. Complexes Of Vitamins A, D, E, And K With Polyethylene Glycol Compounds (Tpgs) Generally Are Tolerated By Patients And Are Better Absorbed. Zinc Deficiency Sometimes Is Observed Then Zinc Is Easily Replaced Via Oral Compounds.
• If Decreases In The Degree Of Hyperlipidemia Must Be Treated With Cholestyramine.
• Pruritus Often Is Recalcitrant To Medicinal Treatment And Significantly Impacts On The Quality Of Life. Trials Of Antihistamine Agents, Such As Hydroxyzine And Diphenhydramine, Are Helpful To Some The Subjects..
• All Subjects, Except Those With Peripheral Pulmonic Stenosis, Require Subacute Bacterial Endocarditis (Sbe) Prophylaxis.
• Diagnosis For Other Vascular Anomalies, Such As Aneurysms Or Stenoses, Must Be Considered.
• Administer Standard Immunizations Along With The Hepatitis A Vaccine To Patients With Liver Manifestations. Also Administer The Multivalent Pneumococcal Vaccine To These Subjects, Particularly If Ascites Is Detected Due To The Risk For Spontaneous Bacterial Peritonitis.

Operational Treatment Of Alagille Syndrome:-

• Surgical Management For Bile Acid-Induced Pruritus Includes Biliary Diversion And Eventual Orthotopic Liver Transplantation For The Subjects With Refractory Disease.
• Indications For Consideration Of Liver Transplantation Include The Following:
o Progressive Hepatic Dysfunction
o Severe Portal Hypertension
o Failure To Thrive
o Intractable Pruritus And Osteodystrophy
• Patients With More Serious Cardiovascular Anomalies Are Likely To Eventually Require Cardiac Surgery