South African guidelines for the management of Gaucher disease, 2011

Bhengu, L; Davidson, Alan; Toit, Paul du; Gerntholtz, Trevor; Govendragaloo, Kenny; Heitner, Rene; Henderson, B; Mubaiwa, L; Varughese, Sheeba

doi:10.7196/samj.5439

Cited by 6 publications

(7 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Initiation of disease-specific therapy in clinically significant GD is guided by presenting symptoms or deterioration over time. [9,10] The goals of treatment are to stabilise and improve clinical signs and symptoms and to prevent irreversible complications. [11] An additional important goal in children is to optimise growth.…”

Section: Discussionmentioning

confidence: 99%

“…In SA, the treatment of choice for type 1 GD is recombinant imiglucerase (Cerezyme; Sanofi Genzyme Corporation, USA). [9,12] Imiglucerase was first introduced in 1994 and is a safe and effective treatment for the key disease characteristics of type 1 GD. However, this treatment is very costly, and in resource-limited settings children often struggle to attend one of the specialist facilities twice a month.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

Ramdin

Schapkaitz

Varughese

et al. 2021

SAMJ

View full text Add to dashboard Cite

Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

Ramdin

Schapkaitz

Varughese

et al. 2021

SAMJ

View full text Add to dashboard Cite

show abstract

“…[23] Management requires an individualised multidisciplinary approach, and ERT is the pharmacotherapeutic treatment of choice for symptomatic patients. [23,24,[29][30][31] Imiglucerase is the most widely used ERT worldwide. It has revolutionised the treatment of GD and markedly improved the prognosis of patients with non-neuropathic forms of the disease, while virtually eliminating the need for therapeutic splenectomy.…”

Section: Researchmentioning

confidence: 99%

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Sevittz

Laher²,

Varughese³

et al. 2021

SAMJ

View full text Add to dashboard Cite

Background. Gaucher disease (GD) is a rare inherited autosomal recessive metabolic disorder with a prevalence in the general population of ~1 per 100 000. To optimise the recognition, diagnosis and management of patients with GD in South Africa (SA), it is important to have an understanding of local patterns of presentation of the disease. Objectives. To describe the baseline pretreatment characteristics of the SA cohort of patients enrolled into the International Collaborative Gaucher Group (ICGG) Gaucher Registry whowere treated with imiglucerase (Cerezyme; Sanofi Genzyme). Methods. The ICGG Gaucher Registry is an observational, longitudinal, international database that tracks the clinical, demographic, genetic, biochemical and therapeutic characteristics of patients with GD globally, irrespective of disease severity, treatment status or treatment choice. The study population included all SA patients reported in the ICGG Gaucher Registry as of 1 May 2020. Results. The registry included 49 SA GD patients, of whom 32 received imiglucerase as first primary GD therapy. All the patients had GD type 1, 59.4% were female, and mean and median ages at diagnosis were 14.7 and 9.8 years, respectively. The most common genotype was N370S/N370S (37.5%). At treatment initiation, 30.0% of patients had been splenectomised. Among patients for whom data were available, anaemia was present in one-third of non-splenectomised patients and 12.5% of those with splenectomy, and moderate or severe thrombocytopenia was reported in two-thirds of non-splenectomised patients. Bone pain was present in 30.8% and 57.1% of non- splenectomised and splenectomised patients, respectively. No bone crises were reported, and data relating to other bone complications were available for only ≤3 patients. Conclusions. Haematological findings and bone pain in this group are similar to those in the global ICGG Gaucher Registry cohort. Lack of baseline data for other bone complications limits interpretation in that regard. Clinicians who treat patients with GD are encouraged to submit accurate, complete and up-to-date information so that comprehensive data for the subset of SA GD patients can be maintained to improve recognition and diagnosis, and guide appropriate and effective use of treatment for SA patients.

show abstract

“…and ∼1 per 850 in the Ashkenazi Jewish population [ 1 – 3 ]. In South Africa, GD has been demonstrated to occur in all ethnic groups [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis of GD is based on history, clinical evaluation, laboratory investigations, and diagnostic imaging. Guidelines for diagnosing GD in the South African setting have been covered elsewhere [ 4 ] and are beyond the scope of this study. However, it is important to note that early diagnosis is imperative for the timely initiation of specific therapy before the development of irreversible complications, and for prenatal diagnosis in subsequent pregnancies [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice

Louw,

Fraser,

Giraldo

2023

PLoS ONE

View full text Add to dashboard Cite

Background Gaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Deliberation between experts is essential to discuss daily clinical practice and identify controversies regarding the management of Gaucher disease. The usefulness of methods like Delphi surveys is suitable for setting up consensus recommendations for different clinical scenarios. Objectives The goal of this study was to develop an expert consensus document for the management of type 1 Gaucher disease by local experts. Methods A modified e-Delphi was carried out to develop an expert consensus document on the management goals of type 1 Gaucher disease in South Africa. Following a literature review and input from the steering committee, 205 management goals and best practice statements were e-mailed to an independent panel for consensus development using three rounds of voting. The panel consisted of five local healthcare practitioners with expertise in Gaucher disease. Each panelist provided independent evaluations of statements sent to them via a dedicated survey platform. Panelists indicated their level of agreement on a 9-point Likert scale (1 = absolute disagreement to 9 = absolute agreement) during each round of voting. The criteria to retain a statement in the final round were ≥80% high agreement (7–9). Results 193 statements met the consensus threshold after three rounds of voting and were included in the final guidance document. In general, the management goals presented in this paper are in line with existing literature on the subject. Additional management goals and general recommendations on sound clinical practice, obtained from more recent research and the panelists’ own clinical experience, have been included to develop a comprehensive consensus document on the management goals of type 1 Gaucher disease. Conclusion This paper provides high-level guidance with respect to management goals, and the use of current therapies and adjunctive interventions in type 1 Gaucher disease to assist clinicians in their decisions about the appropriate management of patients in everyday clinical practice. These management goals and best practice statements might be used to inform an update to future South African guidelines on the disease.

show abstract

South African guidelines for the management of Gaucher disease, 2011

Cited by 6 publications

References 8 publications

Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice

Contact Info

Product

Resources

About