Constrictive pericarditis in Gaucher's disease

Benbassat, Jochanan; Bassan, H; Milwidsky, H.; Sacks, Michael S.; Groen, J. J.

doi:10.1016/0002-9343(68)90067-3

Cited by 27 publications

(13 citation statements)

References 8 publications

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“…27 Table 2 describes typical cardiac pictures of patients with Gaucher disease (red flags). [28][29][30][31][32][33][34][35][36][37] The presence of one or more red flags could signal possible disease.…”

Section: Prevalence Severity and Time Of Onsetmentioning

confidence: 99%

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Molecular Basis and Clinical Management of Gaucher Disease

2013

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Gaucher disease (GD) type I is an autosomal recessive disease caused by a genetic deficiency of lysosomal β-glucocerebrosidase that leads to accumulation of undergraded substrate glucocerebroside and other glycolipids, thus causing damage in different organs. GBA is the only gene in which mutations are known to cause GD. Nearly 300 mutations have been identified in GD patients, including frame-shift mutations, point mutations, deletions, insertions, splice site mutations and recombinants. The variety of phenotypes associated to GD shows imperfect correlation with mutations. GD encompasses a spectrum of clinical findings from a perinatal lethal form to an asymptomatic form. However the classification of GD by clinical subtype is still useful in describing the wide range of clinical findings and broad variability in presentation. Three major clinical types are delineated: type I (chronic nonneuropathic), type II (acute neuropathic), and type III (chronic neuropathic). Patients with type I GD present with visceromegaly, hematological complications, and bone disease. Cardiac and pulmonary complications are rare. Type I GD adult patients have elevated risk of malignancies, Parkinson’s disease or Parkinsonism. Neuropathic forms of GD are rare and clinically ranging from lethal perinatal form to very mild form limited to abnormalities of horizontal ocular saccades. Diagnosis of acid β-glucosylceramidase relies on enzyme activity in peripheral blood leukocytes or skin fibroblasts and/or identification of GBA mutations. Enzyme replacement therapy is an effective treatment for non-neuropathic GD. Substrate inhibitor is the alternative therapy for some patients with GD is miglustat, iminosugar inhibitor of glucocerebroside synthase

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Section: Prevalence Severity and Time Of Onsetmentioning

confidence: 99%

“…34,35 An hypothesis claims that calcification may be secondary to the organization of unrecognized pericardial hemorrhage. This hypothesis was supported by the evidence of extensive hemosiderosis in the pericardium.…”

Section: Pericardial Involvementmentioning

confidence: 99%

Molecular Basis and Clinical Management of Gaucher Disease

2013

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“…Gastroenterologists can be consulted because of anemia, massive splenomegaly or hepatomegaly of unknown cause. Although rare, patients presenting with hepatosplenomegaly and ascites are reported [22] . As mentioned previously, GD involvement changes in severity according to the density of macrophages in the particular organ and partially depends on the phenotypically heterozygous nature of the disease itself.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Gaucher disease: New developments in treatment and etiology

Harmancı

Bayraktar²

2008

WJG

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Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specific cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.

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“…Benbassat et al [3] reported a case of constrictive pericarditis in 1968, and Harvey et al [4] added 3 cases with pericardial effu sion and pericarditis in 1969. In some of the cases the pericardial fluid was hemorrhagic, probably due to the associated blood dyscrasia.…”

Section: Commentmentioning

confidence: 99%

Unusual Echocardiographic Pattern in Gaucher’s Disease

Platzker¹,

Fisman²,

Pines³

et al. 1985

Cardiology

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Described in this paper is a 73-year-old Ashkenazi Jew affected with adult type 1 (nonneuronopathic form) Gaucher’s disease. This was diagnosed at the age of 46 during an investigation of hepatosplenomegaly. No other members of his family were known to be affected with this disorder. The patient has been periodically examined at our Institute and has been free of all cardipulmonary symptoms. This description emphasizes his echocardiographic pattern which revealed left ventricular hypertrophy, a septal muscular hump, and an extended area of apical akinesis. Myocardial involvement in Gaucher’s disease has seldom been reported in the past.

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Constrictive pericarditis in Gaucher's disease

Cited by 27 publications

References 8 publications

Molecular Basis and Clinical Management of Gaucher Disease

Molecular Basis and Clinical Management of Gaucher Disease

Gaucher disease: New developments in treatment and etiology

Unusual Echocardiographic Pattern in Gaucher’s Disease

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Constrictive pericarditis in Gaucher's disease

Cited by 27 publications

References 8 publications

Molecular Basis and Clinical Management of Gaucher Disease

Molecular Basis and Clinical Management of Gaucher Disease

Gaucher disease: New developments in treatment and etiology

Unusual Echocardiographic Pattern in Gaucher&rsquo;s Disease

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Product

Resources

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Unusual Echocardiographic Pattern in Gaucher’s Disease