Transient Elastography Is a Noninvasive Method to Diagnose Hepatic Fibrosis Stages in Children with Rare Diseases

The aim of the investigation was to assess diagnostic significance of liver transient elastography (LTE) in children with cystic fibrosis (CF) and mucopolysaccharidoses (MPS) and glycogen storage disease (GSD) to define liver fibrosis stages.

Materials and Methods. We examined 204 children with rare diseases aged from 6 months to 17.5 years, among them there were 141 patients with CF, 25 patients with MPS, and 38 children with GSD. All patients underwent LTE on FibroScan^®502 using sensors S+ (with two modes) and M depending on chest circumference.

Results. 42 (29.8%), 7 (28.0%) and 18 (47.4%) patients with CF, MPS and GSD, respectively, had formed fibrotic changes of liver parenchyma of different intensity, and in 12.1, 12.0 and 10.5 cases, respectively, there was marked liver fibrosis or cirrhosis. LTE findings showed pronounced heterogeneity in 40 from 99 (40.4%) CF patients, in 14 from 18 (77.8%) MPS patients, and in 10 from 20 (50.0%) GSD patients, whose median elasticity was consistent with the absence of fibrosis. Some individual measurements demonstrated increased indices (from 5.9 to 75.0 kPa) that can indicate the presence of focal fibrosis or cirrhosis of liver in these patients.

Conclusion. LTE is an informative, noninvasive, safe technique to diagnose various stages of liver fibrosis in children with rare diseases (CF, MPS, GSD), which enables to apply it since the neonatal period. LTE makes it possible to identify diffuse liver fibrosis risk group patients. LTE is efficient for monitoring to assess the liver condition dynamics in children with rare diseases both in outpatient and inpatient investigation period.

1. Kashirskaya N.Yu. Sostoyanie zheludochno-kishechnogo trakta, podzheludochnoy zhelezy i gepatobiliarnoy sistemy u bol’nykh mukovistsidozom. Avtoref. dis. … dokt. med. nauk [The condition of gastrointestinal tract, pancreas and hepatobiliary system in patients with cystic fibrosis. DSc Thesis]. Moscow; 2001.
2. Lewindon P.J., Shepherd R.W., Walsh M.J., Greer R.M., Williamson R., Pereira T.N., Frawley K., Bell S.C., Smith J.L., Ramm G.A. Importance of hepatic fibrosis in cystic fibrosis and the predictive value of liver biopsy. Hepatology 2011; 53(1): 193–201, http://dx.doi.org/10.1002/hep.24014.
3. Debray D., Kelly D., Houwen R., Strandvik B., Colombo C. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J Cyst Fibros 2011; 10(Suppl 2): S29–S36, http://dx.doi.org/10.1016/S1569-1993(11)60006-4.
4. Simonova O.I. Complex therapy of children with mucoviscidosis: recommendations of a pediatrician. Pediatricheskaya farmakologiya 2006; 3(6): 44–50.
5. Radchenko V.G., Shabrov A.V., Zinov’eva E.N. Osnovy klinicheskoy gepatologii. Zabolevaniya pecheni i biliarnoy sistemy [Basics of clinical hepatology. Hepatic and biliary diseases]. Saint Petersburg: Dialekt; 2005; 864 p.
6. Rowland M., Bourke B. Liver disease in cystic fibrosis. Curr Opin Pulm Med 2011; 17(6): 461–466, http://dx.doi.org/10.1097/MCP.0b013e32834b7f51.
7. Herrmann U., Dockter G., Lammert F. Cystic fibrosis-associated liver disease. Best Pract Res Clin Gastroenterol 2010; 24(5): 585–592, http://dx.doi.org/10.1016/j.bpg.2010.08.003.
8. Moyer K., Balistreri W. Hepatobiliary disease in patients with cystic fibrosis. Curr Opin Gastroenterol 2009; 25(3): 272–278, http://dx.doi.org/10.1097/MOG.0b013e3283298865.
9. Krasnopol’skaya K.D. Nasledstvennye bolezni obmena veshchestv [Inherited metabolic diseases]. Moscow: Tsentr sotsial’noy adaptatsii i reabilitatsii detey “Fokhat”; 2005; 364 p.
10. Parfrey N.A., Hutchins G.M. Hepatic fibrosis in the mucopolysaccharidoses. Am J Med 1986; 81(5): 825–829, http://dx.doi.org/10.1016/0002-9343(86)90353-0.
11. Baranov A.A., Namazova-Baranova L.S., Surkov A.N., Potapov A.S., Bakanov M.I., Polyakova S.I., Gundobina O.S., Lozovator A.L. Glikogenovaya bolezn’ u detey [Glycogen storage disease in children]. Moscow: Pediatr’’’’; 2012; 128 p.
12. Özen H. Glycogen storage diseases: new perspectives. World J Gastroenterol 2007; 13(18): 2541–2553, http://dx.doi.org/10.3748/wjg.v13.i18.2541.
13. Surkov A.N. Glycogen storage disease in children: modern aspects (part I). Voprosy sovremennoy pediatrii 2012; 11(2): 30–42.
14. Gautier S.V., Tsirulnikova O.M., Mnatsakanyan D.S., Ilyinsky I.M., Mozheiko N.P. Liver transplantation in children with glycogen storage diseases: risk assessment and necessity of this procedure. Vestnik transplantologii i iskusstvennykh organov 2013; 15(1): 67–74.
15. Bedossa P., Poynard T. An algorithm for the grading of activity in chronic hepatitis C. Hepatology 1996; 24(2): 289–293, http://dx.doi.org/10.1002/hep.510240201.
16. Morozov S.V., Trufanova Yu.M., Pavlova T.V., Isakov V.A., Kaganov B.S. Application of elastography to determine hepatic fibrosis intensity: the findings of registration study in Russia. Eksperimental’naya i klinicheskaya gastroenterologiya 2008; 2: 40–48.
17. Dudina K., Znoyko O., Shutko S., Kozina A., Yushchuk N. Comparative analysis of the invasive and noninvasive diagnosis of hepatic fibrosis in patients with chronic hepatitis B. Vrach 2011; 10: 57–59.
18. Sporea I., Sirli R., Deleanu A., Tudora A., Curescu M., Cornianu M., Lazar D. Comparison of the liver stiffness measurement by transient elastography with the liver biopsy. World J Gastroenterol 2008; 14(42): 6513–6517, http://dx.doi.org/10.3748/wjg.14.6513.
19. Sporea I., Sirli R., Deleanu A., Popescu A., Cornianu M. Liver stiffness measurement by transient elastography in clinical practice. J Gastrointestin Liver Dis 2008; 17(4): 395–399.
20. Nobili V., Monti L., Alisi A., Lo Zupone C., Pietrobattista A., Tomà P. Transient elastography for assessment of fibrosis in paediatric liver disease. Pediatr Radiol 2011; 41(10): 1232–1238, http://dx.doi.org/10.1007/s00247-011-2143-y.
21. Fitzpatrick E., Quaglia A., Vimalesvaran S., Basso M.S., Dhawan A. Transient elastography is a useful noninvasive tool for the evaluation of fibrosis in paediatric chronic liver disease. J Pediatr Gastroenterol Nutr 2013; 56(1): 72–76, http://dx.doi.org/10.1097/MPG.0b013e31826f2760.
22. Goldschmidt I., Streckenbach C., Dingemann C., Pfister E.D., di Nanni A., Zapf A., Baumann U.J. Application and limitations of transient liver elastography in children. Pediatr Gastroenterol Nutr 2013; 57(1): 109–113, http://dx.doi.org/10.1097/MPG.0b013e31829206a0.
23. Bolezni pecheni i zhelchevyvodyashchikh putey [Hepatic and biliary diseases]. Pod red. Ivashkina V.T. [Ivashkin V.T. (editor)]. Moscow: OOO “Izdat. dom “M-Vesti”; 2005; 536 p.
24. Surkov A.N. Methods of diagnosis of liver fibrosis and cirrhosis in children. Voprosy diagnostiki v pediatrii 2011; 3(4): 5–14.
25. Witters P., De Boeck K., Dupont L., Proesmans M., Vermeulen F., Servaes R., Verslype C., Laleman W., Nevens F., Hoffman I., Cassiman D. Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease. J Cyst Fibros 2009; 8(6): 392–399, http://dx.doi.org/10.1016/j.jcf.2009.08.001.
26. Malbrunot-Wagner A.C., Bridoux L., Nousbaum J.B., Riou C., Dirou A., Ginies J.L., Maurage C., Cagnard B., Pelatan C., Dabadie A. Transient elastography and portal hypertension in pediatric patients with cystic fibrosis. Transient elastography and cystic fibrosis. J Cyst Fibros 2011; 10(5): 338–342, http://dx.doi.org/10.1016/j.jcf.2011.04.004.

Surkov А.N., Namazova-Baranova L.S., Vashakmadze N.D., Gevorkjan А.К., Tomilova А.Ju., Potapov А.S., Simonova О.I., Kuzenkova L.М., Baranov А.А. Transient Elastography Is a Noninvasive Method to Diagnose Hepatic Fibrosis Stages in Children with Rare Diseases. Sovremennye tehnologii v medicine 2016; 8(3): 56, https://doi.org/10.17691/stm2016.8.3.06