PEDBASE.org - The Pediatric Database - Detailed information of CHOLESTASIS - LYMPHEDEMA

CHOLESTASIS - LYMPHEDEMA

DEFINTION:

A congenital disorder of the lymphatics affecting hepatic bile formation resulting in cholestasis and lymphedema.

EPIDEMIOLOGY:

incidence: rare (about 40 cases reported in 6 families)
age of onset:
- 1-16 weeks of age (cholestasis); 3-10 years (lymphedema)
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: ?
- M = F
- Norwegians

PATHOGENESIS:

1. Background

a disorder causing a direct hyperbilirubinemia and jaundice due to persistent intrahepatic cholestasis
first described by Aagenaes et al. in 1968

2. Genetic Defect

genetic defect -> underdevelopment of lymphatics ->
- hepatic lymphatics - cholestasis
- lymphatics of the legs - pitting edema

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

1. Cholestasis

poor feeding, vomiting
lethargy, irritability (pruritis)
hepatomegaly +/- splenomegaly, steatorrhea
jaundice

2. Complications

malabsorption of fats and fat-soluble vitamins (D,E,A,K)
failure to thrive
hepatic fibrosis with portal hypertension
cirrhosis with liver failure

2. Cutaneous Manifestations

1. Lymphedema

bilaterally symmetric pitting edema
usually involves the entire leg +/- genitalia
may persist after the cholestasis remits
complications:
- infection of the skin and subcutaneous tissue
- tissue necrosis
- immobility

INVESTIGATIONS:

1. Serum

conjugated hyperbilirubinemia
elevated cholesterol, bile salts, AST, ALT, alkaline phosphatase
vitamin D,E,A,K deficiencies

2. For Malabsorption

elevated 72 hour fecal fat content

3. Biopsy

1. Liver

giant cell transformation, portal fibrosis

2. Lymphatics

hypoplasia

4. Imaging Studies

1. Lymphangiogram

lymph vessel hypoplasia

MANAGEMENT:

1. Medical

1. Symptomatic

cholestyramine to bind bile salts and reduce pruritis
supplementation with fat-soluble vitamins (D,E,A,K)
promote bile flow with phenobarbital or rifampin
lymphedema - positional therapy and orthopedic stockings

2. Surgical

liver transplantation for cirrhosis

3. Prognosis

cholestasis tends to lessen with age and may subside by age 6 although in some patients, liver disease may progress to cirrhosis
lymphedema tends to persist after the cholestasis remits

Pediatric Database - CHOLESTASIS - LYMPHEDEMA

Pediatric Organization - Pedbase [at] Gmail.com