Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome
Kelly Zach, Lopa Misra
Mayo Clinic Hospital, Phoenix, AZ, USA.
DOI: 10.4236/ojanes.2015.52007   PDF    HTML   XML   4,483 Downloads   5,602 Views   Citations

Abstract

Hermansky-Pudlak Syndrome (HPS) is a rare genetic condition characterized by platelet function abnormalities and oculocutaneous albinism. Other systemic manifestations of the disease include pulmonary fibrosis, granulomatous colitis, impaired renal function, and cardiomyopathy. Due to the systemic extent of the disease, HPS has multiple anesthetic concerns and requires a detailed preoperative evaluation and close perioperative monitoring.

Share and Cite:

Zach, K. and Misra, L. (2015) Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome. Open Journal of Anesthesiology, 5, 33-36. doi: 10.4236/ojanes.2015.52007.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Hurford, M.T. and Sebastiano, C. (2008) Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature. International Journal of Clinical and Experimental Pathology, 1, 550-554.
[2] Hazelwood, S., Shotelersuk, V., Wildenberg, S.C., Chen, D., Iwata, F., Kaiser-Kupfer, M.I., White, J.G., King, R.A. and Gahl, W.A. (1997) Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlaksyndrome. American Journal of Human Genetics, 61, 1088-1094.
http://dx.doi.org/10.1086/301611
[3] Seward Jr., S.L. and Gahl, W.A. (2013) Hermansky-Pudlak Syndrome: Health Care throughout Life. Pediatrics, 132, 153-160.
http://dx.doi.org/10.1542/peds.2012-4003
[4] Coppola, A. and Di Minno, G. (2008) Desmopressin in Inherited Disorders of Platelet Function. Haemophilia, 14, 31-39.
http://dx.doi.org/10.1111/j.1365-2516.2007.01607.x
[5] Kaufmann, J.E. and Vischer, U.M. (2003) Cellular Mechanisms of the Hemostatic Effects of Desmopressin (DDAVP). Journal of Thrombosis and Haemostasis, 1, 682-689.
http://dx.doi.org/10.1046/j.1538-7836.2003.00190.x
[6] Van Dorp, D.B., Wijermans, P.W., Meire, F. and Vrensen, G. (1990) The Hermansky-Pudlak Syndrome. Variable Reaction to 1-Desa-Mino-8D-Arginine Vasopressin for Correction of the Bleeding Time. Ophthalmic Paediatrics and Genetics, 11, 237-244.
http://dx.doi.org/10.3109/13816819009020985
[7] Cordova, A., Barrios, N.J., Oritz, I., et al. (2005) Poor Response to Desmopressin Acetate (DDAVP) in Children with Hermansky-Pudlak Syndrome. Pediatric Blood & Cancer, 44, 51-54.
http://dx.doi.org/10.1002/pbc.20210
[8] Zatik, J. (2002) Variable Response of Hermansky-Pudlak Syndrome to Prophylactic Administration of 1-Desamino 8D-Arginine in Subsequent Pregnancies. European Journal of Obstetrics & Gynecology and Reproductive Biology, 104, 165-166.
http://dx.doi.org/10.1016/S0301-2115(02)00063-5
[9] Lohse, J., Gehrisch, S., Tauer, J.T. and Knöfler, R. (2011) Therapy Refractory Menorrhagia as First Manifestation of Hermansky-Pudlak Syndrome. Hamostaseologie, 31, S61-S63.
[10] Del Pozo Pozo, A.I., Jimenez-Yuste, V., Villar, A., Villar, A., Quintana, M. and Hernandez-Navarro, F. (2002) Successful Thyroidectomy in a Patient with Hermansky-Pudlak Syndrome Treated with Recombinant Activated Factor VII and Platelet Concentrates. Blood Coagulation & Fibrinolysis, 13, 551-553.
http://dx.doi.org/10.1097/00001721-200209000-00010
[11] Pierson, D.M., Ionescu, D., Qing, G., Yonan, A.M., Parkinson, K., Colby, T.C. and Leslie, K. (2006) Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Respiration, 73, 382-395.
http://dx.doi.org/10.1159/000091609
[12] Carter, B. (2012) Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis. Baylor University Medical Center Proceedings, 25, 76-77.
[13] Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J. and Bernardini, I. (1998) Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome). The New England Journal of Medicine, 338, 1258-1264.
http://dx.doi.org/10.1056/NEJM199804303381803
[14] Gahl, W.A., Brantly, M., Troendle, J., Avila, N.A., Padua, A., Montalvo, C., Cardona, H., Calis, K.A. and Gochuico, B. (2002) Effect of Pirfenidone on the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome. Molecular Genetics and Metabolism, 76, 234-242.
http://dx.doi.org/10.1016/S1096-7192(02)00044-6
[15] Lederer, D.J. (2005) Successful Bilateral Lung Transplantation for Pulmonary Fibrosis Associated with the Hermansky-Pudlak Syndrome. The Journal of Heart and Lung Transplantation, 24, 1697-1699.
http://dx.doi.org/10.1016/j.healun.2004.11.015
[16] Kouklakis, G., Efremidou, E.I., Papageorgiou, M.S., et al. (2007) Complicated Crohn’s-Like Colitis, Associated with Hermansky-Pudlak Syndrome, Treated with Infliximab: A Case Report and Brief Review of the Literature. Journal of Medical Case Reports, 1, 176.
http://dx.doi.org/10.1186/1752-1947-1-176
[17] Huizing, M., Anikster, Y. and Gahl, W.A. (2000) Hermansky-Pudlak Syndrome and Related Disorders of Organelle Formation. Traffic, 1, 823-835.
http://dx.doi.org/10.1034/j.1600-0854.2000.011103.x

Copyright © 2023 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.