Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease

Tassoni, Joseph P.; Fawaz, Khaled; Johnston, David

doi:10.1016/0016-5085(91)90233-b

Cited by 43 publications

(24 citation statements)

References 10 publications

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“…Fatal liver failure has also been reported in two children from the French cohort (Labrune et al 1991). Cirrhosis and portal hypertension were further reported in a 33-year-old patient with NPD (Tassoni et al 1991). Low factor V level of coagulation could have been related not only to liver disease but also to hypersplenism with resultant expansion of plasma volume (diluting the clotting factors) and increased intrasplenic utilisation of factors which has been described in NPD (Dewhurst et al 1979).…”

Section: Discussionmentioning

confidence: 79%

“…A majority of typical type B patients survive until late adulthood, but some patients have a severe systemic disease, eventually leading to premature death, often by liver failure or cirrhosis (Labrune et al 1991;Wasserstein et al 2004;Pavlu-Pereira et al 2005;McGovern et al 2013). Recent studies indicate that liver cirrhosis may be more frequent than previously reported in type B NPD (Tassoni et al 1991;Thurberg et al 2012). Respiratory insufficiency is another important cause of morbidity.…”

Section: Introductionmentioning

confidence: 97%

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Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

et al. 2014

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Section: Discussionmentioning

confidence: 79%

Section: Introductionmentioning

confidence: 97%

Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

et al. 2014

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“…16 In addition, several cases of severe liver disease have been reported in patients with NPD-B, ranging from children with fatal hepatic failure 17 to adults with cirrhosis and portal hypertension. 2 These clinical descriptions, coupled with the findings on pathologic examination of the liver, raise concerns about the ultimate contribution of liver dysfunction to the morbidity and mortality of NPD-B patients. Serum transaminases were abnormal in most patients and tended not to change significantly over time.…”

Section: Discussionmentioning

confidence: 99%

“…Other, more variable features of NPD-B may include liver dysfunction, cardiac disease, retinal stigmata, and growth retardation. [2][3][4][5][6] There is a broad spectrum of disease manifestations among NPD-B patients, ranging from onset in childhood with massive organomegaly, secondary hypersplenism, growth restriction, and later pulmonary involvement or liver failure to a milder, attenuated course. As in other lysosomal storage diseases, this marked phenotypic variability is influenced by genotype, 7,8 although other factors such as gender and age may also contribute to disease severity.…”

mentioning

confidence: 99%

The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study

Wasserstein¹,

Desnick²,

Schuchman³

et al. 2004

Pediatrics

155

168

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ABSTRACT. Objectives. Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences phenotype.Methods. Twenty-nine patients with NPD-B had serial evaluations at least 9 months apart. Organ volumes, hematologic indices, lipid concentrations, pulmonary function, and hepatic activity were studied, and individual phenotypic severity was compared with genotype.Results. All patients with intact spleens had splenomegaly (mean value: 12.7 multiples of normal [MN]; range: 4.5-27.3 MN), and all but 1 had hepatomegaly (mean volume: 1.91 MN; range: 0.93-3.21 MN). At initial visit, 39% had thrombocytopenia and 3% had leukopenia. At final visit, the percentages increased to 54% and 34%, respectively. Mean annual decreases in platelet count and leukocyte count were 7 ؋ 10 3 and 0.2 ؋ 10 3 per mm 3 , respectively. The typical atherogenic lipid profile was worse in older patients. A total of 69% of patients had low diffusion capacity for carbon monoxide, and more than one third had low forced expiratory volume in 1 second, forced vital capacity, and forced expiratory volume in 1 second/forced vital capacity at initial visit. All measurements of pulmonary function showed a gradual deterioration over time. Liver dysfunction was characterized by stable elevation of hepatic transaminases and bilirubin. Homozygotes for ⌬R608, P323A, and P330R had milder disease than patients with all other genotypes.Conclusions. N iemann-Pick disease (NPD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM; sphingomyelin phosphodiesterase; EC 3.1.4.12) and the accumulation of sphingomyelin within cells of the monocyte-macrophage system. 1 Types A and B NPD are inherited as autosomal recessive traits and result from allelic mutations in the ASM gene. Type A disease (NPD-A), which has an Ashkenazi Jewish predilection, is a fatal neurodegenerative disorder of infancy. In contrast, type B NPD (NPD-B), which is panethnic, is a nonneuronopathic disease characterized by hepatosplenomegaly, hyperlipidemia, and pulmonary involvement, with most patients living into adulthood. Other, more variable features of NPD-B may include liver dysfunction, cardiac disease, retinal stigmata, and growth retardation. [2][3][4][5][6] There is a broad spectrum of disease manifestations among NPD-B patients, ranging from onset in childhood with massive organomegaly, secondary hypersplenism, growth restriction, and later pulmonary involvement or liver failure to a milder, attenuated course. As in other lysosomal storage diseases, this marked phenotypic variability is influenced by genotype, 7,8 although other factors such as gender and age may also contribute to disease severity. To date, the phenotypic variab...

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“…Other features that have been reported include liver dysfunction, cardiac disease, retinal stigmata, growth retardation, and skeletal manifestations including osteoporosis and osteopenia. [2][3][4][5][6][7] In addition, there is a subset of variant patients who survive early childhood but have progressive neurologic findings including ataxia, variable degrees of developmental delay, and peripheral neuropathy. 8,9 Accompanying this marked phenotypic variability among patients with NP-B is a broad range of disease severity.…”

confidence: 99%