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 8 publications

(4 citation statements)

References 16 publications

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“…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

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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.

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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

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“…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].…”

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confidence: 99%

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

Mauhin

Borie

Dalbiès³

et al. 2022

JCM

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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.

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“…Hepatosplenomegaly, pulmonary insufficiency, and profound central nervous system (CNS) involvement can lead to death in untreated patients within the first few years of life in NPA [ 3 ]. In contrast, NPB is the non-neuropathic form of the disorder with milder symptoms and clinical manifestations starting at later ages, with most patients reaching adulthood [ 4 ]. Low levels or total deficiency of ASM is the main cause of sphingomyelin accumulation and lipid abnormalities as well as downstream cell signaling pathways that affect ceramide generation as an important secondary pathway [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

Mobini

Radbakhsh

Kubaski

et al. 2022

JCM

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Background and Aims: Niemann–Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalose has been suggested as an autophagy inducer with therapeutic neuroprotective effects. We performed a single-arm, open-label pilot study to assess the potential efficacy of trehalose treatment in patients with NPA and NPB patients. Methods: Five patients with NPD type A and B were enrolled in an open-label, single-arm clinical trial. Trehalose was administrated intravenously (IV) (15 g/week) for three months. The efficacy of trehalose in the management of clinical symptoms was evaluated in patients by assessing the quality of life, serum biomarkers, and high-resolution computed tomography (HRCT) of the lungs at the baseline and end of the interventional trial (day 0 and week 12). Results: The mean of TNO-AZL Preschool children Quality of Life (TAPQOL) scores increased in all patients after intervention at W12 compared to the baseline W0, although the difference was not statistically significant. The serum levels of lyso-SM-509 and lyso-SM were decreased in three and four patients out of five, respectively, compared with baseline. Elevated ALT and AST levels were decreased in all patients after 12 weeks of treatment; however, changes were not statistically significant. Pro-oxidant antioxidant balance (PAB) was also decreased and glutathione peroxidase (GPX) activity was increased in serum of patients at the end of the study. Imaging studies of spleen and lung HRCT showed improvement of symptoms in two patients. Conclusions: Positive trends in health-related quality of life (HRQoL), serum biomarkers, and organomegaly were observed after 3 months of treatment with trehalose in patients with NPA and NPB. Although not statistically significant, due to the small number of patients enrolled, these results are encouraging and should be further explored.

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

Cited by 8 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

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

Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

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