AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B

Objective: Niemann-Pick disease (NPD) occurs with the storage of lipids including sphingomyelin and cholesterol due to acid sphyngomyelinase deficiency. Based on genetic cause and clinical picture NPD are divided in four main types. The type B is called as non-neuronopathic variant in which many pat...

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Autores principales:	Özden ÖZLÜK, Metban GÜZEL MASTANZADE, Beyza ŞEN OLUK, Sevgi KALAYOĞLU BEŞIŞIK, Bezirgen BALLYYEV
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/646a65a71b2b463f85702b4012c3af7f
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spelling	oai:doaj.org-article:646a65a71b2b463f85702b4012c3af7f2021-11-10T04:32:58ZAN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B2531-137910.1016/j.htct.2021.10.980https://doaj.org/article/646a65a71b2b463f85702b4012c3af7f2021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921011275https://doaj.org/toc/2531-1379Objective: Niemann-Pick disease (NPD) occurs with the storage of lipids including sphingomyelin and cholesterol due to acid sphyngomyelinase deficiency. Based on genetic cause and clinical picture NPD are divided in four main types. The type B is called as non-neuronopathic variant in which many patients may survive several decades. Infiltration by lipid-laden foam cells of tissues contribute to life-threatening complications. We here present a case who has been diagnosed as having NPD in the adulthood. Case report: A 46-year-old male patient with peripheral edema and dyspnea and abdominal distention was investigated. He has a medical history of aortic and tricuspid valve regurgitation with severe pulmonary hypertansion, decreased ejection fraction as 35% and acsending aort aneurism on 30 years old. He experienced three years later ascending aortic replacement and aortic valve replacement. He developed dyspnea, bleeding gums, and alveolar hemorrhage was diagnosed on 40s. Methodology: Pancytopenia associated massive splenomegaly and hepatomegaly contibute reassesment of the disease. Bone marrow revealed moderate hypercellularity T lymphocytosis, focal mild dysplasic changes, and mild reticulin fiber increase. No cytogenetic abnormality and PNH clone was detected. He had developed congestive heart failure and massive proteinuria. Also he had medically controlled hyperlipidemia and interstitial lung disease. Results: A storage disease investigation was started. Plasma Chitotriosidase was found to be increased and leukocyte sphingomyelinase activity was decreased. A genetic screening for NPD revealed homozygote (SMPD1 p.V36A (c.107T> C) (rs1050228) and heterozygote G508R (c.1522G> A) (rs1050239).NPD type was diagnosed with probable kidney involevement and cardiac cirrhosis. Supportive treatment was decided. He succumbed in a short time on sepsis atack unfortunetaly. Conclusion: NPD type B is a rare storage disease. It is a multisystemic disease characterized by its clinical variability and could be overlooked until adulthood life with various differential diagnosis option. It should be considered.Özden ÖZLÜKMetban GÜZEL MASTANZADEBeyza ŞEN OLUKSevgi KALAYOĞLU BEŞIŞIKBezirgen BALLYYEVElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S20- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Özden ÖZLÜK Metban GÜZEL MASTANZADE Beyza ŞEN OLUK Sevgi KALAYOĞLU BEŞIŞIK Bezirgen BALLYYEV AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
description	Objective: Niemann-Pick disease (NPD) occurs with the storage of lipids including sphingomyelin and cholesterol due to acid sphyngomyelinase deficiency. Based on genetic cause and clinical picture NPD are divided in four main types. The type B is called as non-neuronopathic variant in which many patients may survive several decades. Infiltration by lipid-laden foam cells of tissues contribute to life-threatening complications. We here present a case who has been diagnosed as having NPD in the adulthood. Case report: A 46-year-old male patient with peripheral edema and dyspnea and abdominal distention was investigated. He has a medical history of aortic and tricuspid valve regurgitation with severe pulmonary hypertansion, decreased ejection fraction as 35% and acsending aort aneurism on 30 years old. He experienced three years later ascending aortic replacement and aortic valve replacement. He developed dyspnea, bleeding gums, and alveolar hemorrhage was diagnosed on 40s. Methodology: Pancytopenia associated massive splenomegaly and hepatomegaly contibute reassesment of the disease. Bone marrow revealed moderate hypercellularity T lymphocytosis, focal mild dysplasic changes, and mild reticulin fiber increase. No cytogenetic abnormality and PNH clone was detected. He had developed congestive heart failure and massive proteinuria. Also he had medically controlled hyperlipidemia and interstitial lung disease. Results: A storage disease investigation was started. Plasma Chitotriosidase was found to be increased and leukocyte sphingomyelinase activity was decreased. A genetic screening for NPD revealed homozygote (SMPD1 p.V36A (c.107T> C) (rs1050228) and heterozygote G508R (c.1522G> A) (rs1050239).NPD type was diagnosed with probable kidney involevement and cardiac cirrhosis. Supportive treatment was decided. He succumbed in a short time on sepsis atack unfortunetaly. Conclusion: NPD type B is a rare storage disease. It is a multisystemic disease characterized by its clinical variability and could be overlooked until adulthood life with various differential diagnosis option. It should be considered.
format	article
author	Özden ÖZLÜK Metban GÜZEL MASTANZADE Beyza ŞEN OLUK Sevgi KALAYOĞLU BEŞIŞIK Bezirgen BALLYYEV
author_facet	Özden ÖZLÜK Metban GÜZEL MASTANZADE Beyza ŞEN OLUK Sevgi KALAYOĞLU BEŞIŞIK Bezirgen BALLYYEV
author_sort	Özden ÖZLÜK
title	AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
title_short	AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
title_full	AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
title_fullStr	AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
title_full_unstemmed	AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B
title_sort	unusual surviving history: multisystem involvement until adult life with niemann pick type b
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/646a65a71b2b463f85702b4012c3af7f
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AN UNUSUAL SURVIVING HISTORY: MULTISYSTEM INVOLVEMENT UNTIL ADULT LIFE WITH NIEMANN PICK TYPE B

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