Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Ordieres‐Ortega, Lucía; Galeano‐Valle, Francisco; Mallén-Pérez, M.; Muñoz-Delgado, Cecilia; Apaza-Chávez, J. E.; Menárguez-Palanca, F. J.; Walther, Luis Álvarez-Sala; Demelo‐Rodríguez, Pablo

doi:10.1186/s12881-020-01027-9

Cited by 9 publications

(6 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Also, we found the data about worsening of the lung function after this procedure in literature, caused by increased sphingomyelin accumulation in pulmonary tissue [1-3, 10, 11]. We decided not to treat her for hyperlipoproteinemia because there is no proof about efficiency of that treatment in Niemann-Pick, and tried to avoid potential elevation of liver enzymes [12]. Improvement in Niemann-Pick disease after injections of amniotic pooled placentas was described in literature and Porter et al mentioned improvement in liver function tests in their patient during pregnancy but without influence on hepatomegaly [6].…”

Section: Discussionmentioning

confidence: 99%

Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review

et al. 2023

View full text Add to dashboard Cite

Introduction. Niemann-Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia, dyslipidemia, sphingomyelin deposition in lung and liver, and bleeding risk. This is a rare disease and literature data about pregnancy in this setting are scarce. We present two favorable pregnancy outcomes in a patient with Niemann-Pick disease type B along with the review of the literature. Case outline. At the time of the first intended pregnancy, the patient was 34 years old. She had an extremely enlarged spleen, mild restrictive pulmonary disorder, hyperlipoproteinemia type IIb, thrombocytopenia with impaired aggregation tests. Cesarean section was indicated. She was prepared for delivery with platelet concentrates and prophylactic use of antibiotic. In the 36th week of gestation a Cesarean section without complications was performed. The newborn?s anthropometric parameters were BW 2490, BL 47 cm, HC 32 cm, and Apgar score was 7/8. Infant?s development was normal. Three years later in the second wanted pregnancy the same examinations were done. The planned Cesarean section was done without complication after the same procedures, including prophylactic use of antibiotics and platelet concentrates, and healthy female child was born. Conclusion. A multidisciplinary approach in female patients who suffer from lysosomal storage disease such as Niemann-Pick disease type B is essential and a favorable course is possible despite all risks.

show abstract

Section: Discussionmentioning

confidence: 99%

Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review

et al. 2023

View full text Add to dashboard Cite

show abstract

“…It is the first and only enzyme replacement therapy in late-stage development to treat this disease. No treatment has yet been approved to treat acid sphingomyelinase deficiency [37].…”

Section: There Are Also Cases Of Patients With Characteristics Interm...mentioning

confidence: 99%

Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature

Taha,

Tadmori,

Hida

2023

OJPed

View full text Add to dashboard Cite

Niemann-Pick disease (NPD) refers to a group of patients who have varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features, including hepatosplenomegaly, insufficiency pulmonary and/or central nervous system (CNS). Thanks to the pioneering work of Roscoe Brady and colleagues, we now know that there are two distinct metabolic abnormalities that explain NPD. The first is due to the deficient activity of the acid sphingomyelinase enzyme (ASM; NPD "types A and B"), and the second is due to defective functioning in the transport of cholesterol (NPD "type C"). We report the case of a 13-year-old adolescent diagnosed with Niemann-Pick A/B disease.

show abstract

“…Patients should also be encouraged to stop or avoid smoking (including second-hand exposure), to reduce the risk of lung and coronary disease, as well as cancer [13,37]. There is no specific recommendation but standard lipid-lowering agents, such as statins or ezetimibe, have shown benefits and are classically proposed to manage blood lipid abnormalities [9,13,38].…”

Section: Four Expert Meetings Took Place Inmentioning

confidence: 99%

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Mauhin

Borie

Dalbiès³

et al. 2022

JCM

View full text Add to dashboard Cite

Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells of the reticuloendothelial system located in numerous organs, such as the liver, spleen, lungs, and central nervous system. Although all patients with ASMD share the same basic metabolic defect, a wide spectrum of clinical presentations and outcomes are observed, contributing to treatment challenges. While infantile neurovisceral ASMD (also known as Niemann–Pick disease type A) is rapidly progressive and fatal in early childhood, and the more slowly progressive chronic neurovisceral (type A/B) and chronic visceral (type B) forms have varying clinical phenotypes and life expectancy. The prognosis of visceral ASMD is mainly determined by the association of hepatosplenomegaly with secondary thrombocytopenia and lung disease. Early diagnosis and appropriate management are essential to reduce the risk of complications and mortality. The accessibility of the new enzyme replacement therapy olipudase alfa, a recombinant human ASM, has been expedited for clinical use based on positive clinical data in children and adult patients, such as improved respiratory status and reduced spleen volume. The aim of this article is to share the authors experience on monitoring ASMD patients and stratifying the severity of the disease to aid in care decisions.

show abstract

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Cited by 9 publications

References 16 publications

Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review

Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review

Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Contact Info

Product

Resources

About