Serum lipids in parents and siblings of children with Alagille syndrome: a pilot study.
OBJECTIVE
Alagille syndrome, a dominant inherited disorder, is characterized by cholestatic liver disease, associated to interlobular bile duct paucity combined with; cardiac, skeletal, ocular and facial abnormalities. Increased levels of serum lipids are present in more than 80% of probands. Parents and siblings of children with Alagille syndrome are often found to have a mild expression of this probable disease gene; it is not known if dyslipidemia occurs in parents and siblings of children with Alagille syndrome. The aim of the study was to investigate the lipid profile in sibs and parents of children with Alagille syndrome.


METHODS
Four children with Alagille syndrome and 21 first-degree relatives were studied.


METHODS
A pediatric referral hospital.


METHODS
July-October 2005.


METHODS
cross-sectional.


METHODS
Total, low-density, high-density cholesterol and triglyceride.


METHODS
chi2, Mann-Whitney U and Kruskal-Wallis.


RESULTS
Probands had higher levels of total cholesterol, low-density cholesterol and triglycerides than their siblings (p<0.05); however, no differences with their parents were observed (p>0.05).


CONCLUSIONS
Dyslipidemia does not seem to be a phenotypic expression in first degree relatives of children with Alagille syndrome. The increased level of serum lipids observed in some of the parents is similar to the expected prevalence of hypercholesterolemia in the adult Mexican population.
Unidad Médica de Alta Especialidad, Hospital de Pediatría Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social Sector Libertad Guadalajara Jalisco, CP, México. alfreolarrosaharo@hotmail.com
Alfredo
A
Larrosa-Haro
Moisés
M
Melgoza-Radillo
Carmen A
CA
Sánchez-Ramírez
Erika F
EF
Hurtado-López
D000328:Adult; D000368:Aged; D016738:Alagille Syndrome / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood; D003430:Cross-Sectional Studies; D050171:Dyslipidemias / Q000453:epidemiology*; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010290:Parents; D035781:Siblings
D008078:Cholesterol, LDL