Wolman's Disease: The King Faisal Specialist Hospital and Research Centre Experience

Essa, Mohsain; Nounou, Randa; Sakati, Nadia; Quesne, Gilles; Joshi, S; Archibald, Alison D; Özand, Pinar

doi:10.5144/0256-4947.1998.120

Cited by 27 publications

(28 citation statements)

References 15 publications

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“…Diagnosis of CESD requires a high index of clinical suspicion as the combination of fatty liver, elevated transaminases and dyslipidemia is also seen in patients with the much more common diagnosis of metabolic syndrome. As is the case for some other lysosomal storage diseases (26), substrate accumulation in LAL Deficiency is also associated with macrophage activation, elevation of ferritin (23), and chitotriosidase (27). The results of these studies demonstrate that sebelipase alfa is well tolerated with infrequent, mild reactions.…”

Section: Discussionmentioning

confidence: 95%

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

et al. 2013

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Background & Aims Cholesteryl Ester Storage Disease, an inherited deficiency of lysosomal acid lipase, is an underappreciated cause of progressive liver disease with no approved therapy. Presenting features include dyslipidemia, elevated transaminases, and hepatomegaly. Methods To assess the clinical effects and safety of the recombinant human lysosomal acid lipase, sebelipase alfa, 9 patients received 4 once-weekly infusions (0.35, 1, or 3 mg·kg−1) in LAL-CL01 which is the first human study of this investigational agent. Patients completing LAL-CL01 were eligible to enroll in the extension study (LAL-CL04) in which they again received 4 once-weekly infusions of sebelipase alfa (0.35, 1, or 3 mg·kg−1) before transitioning to long term every other week infusions (1 or 3 mg·kg−1). Results Sebelipase alfa was well-tolerated with mostly mild adverse events unrelated sebelipase alfa. No anti-drug antibodies were detected. Transaminases decreased in patients in LAL-CL01 and increased between studies. In 7 patients receiving ongoing sebelipase alfa treatment in LAL-CL04, mean±SD decreases for alanine transaminase and aspartate aminotransferase at week 12 compared to the baseline values in LAL-CL01 were 46±21U/L (-52%) and 21±14U/L (-36%), respectively (p<0.05). Through week 12 of LAL-CL04, these 7 patients also showed mean decreases from baseline in total cholesterol of 44±41mg/dL (-22%; p=0.047), low density lipoprotein-cholesterol of 29±31mg/dL (-27%; p=0.078), and triglycerides of 50±38mg/dL (-28%, p=0.016) and increases in high density lipoprotein-cholesterol of 5mg/dL (15%; p=0.016). Conclusions These data establish that sebelipase alfa, an investigational enzyme replacement, in patients with Cholesteryl Ester Storage Disease is well tolerated, rapidly decreases serum transaminases and that these improvements are sustained with long term dosing and are accompanied by improvements in serum lipid profile.

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Section: Discussionmentioning

confidence: 95%

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

et al. 2013

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“…Large lipid droplet (asterisk) and soft triglycerides are also present in lysosomes (uranyl acetate, lead citrate, ×4,500) hypertriglyceridemia, hypofibrinogenemia, hyperferritinemia, and hemophagocytosis in bone marrow (Table 1). An association between WD and hemophagocytosis has been anecdotally described [1,7]. In 1998, Al Essa et al reported a 4-month-old infant with a diagnosis of WD, presenting with vomiting, greasy stools, failure to thrive, abdominal distension, hepatosplenomegaly, enlarged and calcified adrenal glands, lung infiltrates, severe anemia and thrombocytopenia, increased liver transaminases, hyperferritinemia, and evidence of foamy histiocytes and hemophagocytosis in bone marrow aspirate [1].…”

Section: Discussionmentioning

confidence: 98%

“…An association between WD and hemophagocytosis has been anecdotally described [1,7]. In 1998, Al Essa et al reported a 4-month-old infant with a diagnosis of WD, presenting with vomiting, greasy stools, failure to thrive, abdominal distension, hepatosplenomegaly, enlarged and calcified adrenal glands, lung infiltrates, severe anemia and thrombocytopenia, increased liver transaminases, hyperferritinemia, and evidence of foamy histiocytes and hemophagocytosis in bone marrow aspirate [1]. In 2005, Perry et al, in a study conducted on children with primary adrenal insufficiency, reported on two patients with WD presenting hepatosplenomegaly, anemia, and elevated transaminases and triglycerides, who received previous presumptive diagnosis of FHLH [7].…”

Section: Discussionmentioning

confidence: 98%

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

et al. 2014

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“…Nieman Pick, Wolmann, Tangier diseases, long-term total parenteral nutrition, hypercholesterolemia, and hyperlipoproteinemia are the diseases/ conditions which are also associated with foamy histiocytes. [2][3][4][5] We noticed foamy histiocytes in the BMA smears of the patient with AML after she received 2 weeks of chemotherapy. We suggest that after the intensive chemotherapy, degradation products of blasts phagocytosed by the histiocytes may have been the cause in the increase in such histiocytes before regeneration of the bone marrow, because after the remission was achieved, foamy histiocytes disappeared from BMA smears.…”

Section: Discussionmentioning

confidence: 99%

Foamy Histiocytes in a Child With Acute Myeloid Leukemia

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et al. 2012

Journal of Pediatric Hematology/Oncology

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Here, we have reported foamy histiocytes noticed in the bone marrow aspiration (BMA) smears of a 14-year-old girl with the diagnosis of AML after she received 2 weeks of chemotherapy. We suggest that after the intensive chemotherapy, degradation products of blasts phagocytosed by the histiocytes may have been the cause in the increase in such histiocytes before regeneration of the bone marrow. After the remission was achieved, foamy histiocytes disappeared from BMA smears. These foamy histiocytes may be an idiosyncratic response to the chemotherapy in rare cases. Further studies about the accumulation of foamy histiocytes in bone marrow of leukemic patients received intensive chemotherapy may clarify this subject.

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Wolman's Disease: The King Faisal Specialist Hospital and Research Centre Experience

Cited by 27 publications

References 15 publications

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

Foamy Histiocytes in a Child With Acute Myeloid Leukemia

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