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 Table of Contents  
Year : 2020  |  Volume : 11  |  Issue : 3  |  Page : 93-101

Management algorithms for gaucher disease

1 Department of Hematology/Oncology King Saud Bin Abdulaziz University for Health Sciences; Division of Adult Hematology & HSCT, King Abdulaziz Medical City, Riyadh, Saudi Arabia
2 Center of Excellence in Thrombosis and Hemostasis, King Saud University-Medical City, Riyadh, Saudi Arabia
3 Pediatrics Hematology/Oncology Department King Abdullah Medical City, Madinah, Saudi Arabia
4 Department of Medicine, Hematology Section, King Fahad Hospital, Hofuf, Saudi Arabia
5 Department of medicine, Qatif Central Hospital, Qatif, Eastern Province, Saudi Arabia
6 Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
7 Department of Medical Affairs, Sanofi-Genzyme, Jeddah, Saudi Arabia
8 Department of Pediatrics, East Jeddah General Hospital, Jeddah, Saudi Arabia

Date of Submission18-Apr-2020
Date of Decision25-May-2020
Date of Acceptance06-Aug-2020
Date of Web Publication16-Sep-2020

Correspondence Address:
Dr. Ayman Alhejazi
Department of Hematology/Oncology King Saud Bin Abdulaziz University for Health Sciences, Division of Adult Hematology & HSCT, King Abdulaziz Medical City, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_46_20

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INTRODUCTION: Gaucher disease is a challenging disease because of the progressive nature and multiple systems that are involved. Gaucher disease is underdiagnosed in Saudi Arabia. It is sometimes misdiagnosed with other hematological diseases. The prevalence is apparently higher than what is currently reported in the available literature. This might be mainly due to the high percentage of consanguinity, especially among tribes. The main objective of this consensus was to provide a comprehensive algorithm for the diagnosis of Gaucher disease for hematologists mainly. Gaucher-related peer-reviewed literature was discussed and adapted to match the practice in Saudi Arabia. Discussion of different Clinical presentations for adult and pediatric patients and improving access to Diagnostic testing like Enzymatic analysis and genetic testing to be able to find solutions for the issue of delayed diagnosis of Gaucher Disease in Saudi Arabia.
METHODS: After a thorough literature review, the group discussed set of queries such as: The difference in adults and Pediatric Gaucher disease diagnostic algorithms in Saudi Arabia. The management goals for Gaucher disease and the local risk assessment parameters were discussed as well. In addition to the unmet needs in Gaucher disease, and reasons for delayed Gaucher disease diagnosis and their consequences. Then, the group adapted the algorithms after localizing each step.
RESULTS: After reviewing different Gaucher disease diagnostic algorithms by Mistry PK et al for the adult age group and Di Rocco M et al for the pediatric age group, We were able to draft complete detailed algorithms for diagnosis of Gaucher.
CONCLUSION: Gaucher disease is underdiagnosed or misdiagnosed. The actual prevalence can be higher than what is reported in the literature, and the current number of diagnosed cases does not reflect the actual prevalence.

Keywords: Algorithms, Gaucher disease, Kingdom of Saudi Arabia, management, Saudi Arabia

How to cite this article:
Alhejazi A, AlMomen A, Tarawah AM, AlSuliman AM, Al Saeed HH, Saleh M, ElBagoury M, Kashari OF, Hussein OM. Management algorithms for gaucher disease. J Appl Hematol 2020;11:93-101

How to cite this URL:
Alhejazi A, AlMomen A, Tarawah AM, AlSuliman AM, Al Saeed HH, Saleh M, ElBagoury M, Kashari OF, Hussein OM. Management algorithms for gaucher disease. J Appl Hematol [serial online] 2020 [cited 2023 Oct 3];11:93-101. Available from: https://www.jahjournal.org/text.asp?2020/11/3/93/295124

  Introduction Top

Gaucher disease is the most globally prevalent autosomal recessive lysosomal storage disease resulting from the deficiency of glucocerebrosidase enzyme, leading to a build-up of glucocerebroside (glucosylceramide) inside macrophages' lysosomes.[1] Macrophages puffed up with glycolipid–lipid are named as Gaucher cells, and their systemic accumulation within the reticuloendothelial system leads to diverse presentations comprising splenomegaly, abdominal discomfort, anemia, and chronic fatigability. Bruises and bleeding tendencies may happen because of either thrombocytopenia. In addition, hepatomegaly with abnormal liver functions and various forms of bone involvement may be present.[2]

Infrequently, Gaucher disease involves other organs such as eyes, skin, heart, and kidneys. Rarely, the central nervous system could be involved, leading to degenerative changes that result in the neuronopathic variant. Other systems such as the respiratory and lymphatic systems may also be affected.[1]

Three phenotypes of Gaucher disease are described: type 1 which spares the nervous system; type 2 which is characterized by aggressive neurological involvement and being lethal in infancy; and type 3, manifested by gradual progressive neurological disease, which usually causes death in children or young adults.[2]

Type 1 Gaucher disease is more prevalent. Its worldwide prevalence ranges from 1/50,000 to 1/100,000.[3],[4],[5],[6] Type 1 Gaucher disease has the largest phenotypic range in Gaucher disease, regarding the age of onset, progression rate, and involved organs.[7]

In Saudi Arabia, around 75 patients have been diagnosed with Gaucher disease (45 of them were type 1 patients, 4 patients with type 2, and 26 with type 3); however, there is a huge under-diagnosis or misdiagnosis gap for Gaucher disease. The incidence is expected to be much higher due to high consanguinity and a high pregnancy rate per family.

Enzyme replacement therapy (ERT) is an effective treatment of type 1 Gaucher disease (and type 3). There is a body of evidence from Gaucher registry, sponsored by the International Collaborative Gaucher Group (ICGG), indicating that ERT reverses both visceral and hematological manifestations of Gaucher disease[8] and relieves skeletal symptoms, leading to better quality of life.[9],[10],[11],[12] Unfortunately, late-onset bone manifestations of Gaucher disease such as osteonecrosis, osteofibrosis, and osteolytic lesions are irreversible if ERT is not started early. Early commencement of ERT reduces the risk of such irreversible sequelae.[13],[14]

Timely diagnosis is the best possible option for optimum Gaucher disease management.[15] Symptoms of type 1 Gaucher disease are splenomegaly, anemia, thrombocytopenia, and bleeding tendency.[16] Hence, Gaucher disease sufferers are usually referred to hematologists for diagnosis and optimal management. Ironically, only 20% of hematologists/oncologists would consider Gaucher disease in the differential diagnosis, despite the presence of all traditional symptoms as shown in one study.[13]

Management goals for Gaucher disease according to the amended 2016 European Working Group Consensus were discussed and summarizedin [Table 1].
Table 1: Gaucher disease: Short- and long-term management goals[19]

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Since there is a compelling need to enhance the diagnosis of Gaucher disease in Saudi Arabia, it is important to provide a feasible, comprehensive algorithmic guideline for diagnosis and treatment of Gaucher disease for healthcare professionals, especially hematologists taking into consideration the complexity of the local healthcare system, patient referral dynamics, and disease awareness level among referring specialties.

  Queries Set Top

We agreed on a set of queries to guide our discussion such as (i) How different are Gaucher disease diagnostic algorithms for adults and pediatrics in Saudi Arabia compared to standard algorithms? (ii) What are the management goals for Gaucher disease locally? (iii) What are the local risk assessment parameters for adults and children with Gaucher disease? (iv) What are the unmet needs in Gaucher disease? (v) Why is Gaucher disease missed? (v) Differential diagnosis? (vi) What are the consequences of a delay in diagnosis? (vii) How we can ensure correct diagnosis and management of bone manifestations in Gaucher patients?

The consensus process

Misdiagnosis patterns in Gaucher disease were reviewed presenting the clinical picture in Gaucher disease sufferers from our clinical experience and outlined in the published diagnostic algorithms for both adult and pediatric age groups. We identified key diagnostic features and consequently adapted those algorithms to match the Saudi situation.

  Results Top

Gaucher disease diagnostic algorithms in adult groups

The authors discussed the Gaucher disease diagnostic algorithm which was reappraised by Mistry[17] for the adult age group and Di Rocco et al.[18] for the pediatric age group.

A dedicated Screening program for high risk patients suffering from thrombocytopenia with splenomegaly or with non-responding Immune thrombocytopenia can help to diagnose more patients. Further, splenomegaly and gammopathies or multiple myeloma at a young age should warrant alertness to Gaucher disease. Splenectomy associated with a history of thrombocytopenia should be considered as an alarming sign.

In patients with normal spleen and having isolated thrombocytopenia, the most common diagnosis is immune thrombocytopenia (ITP); unless it is refractory to treatment (corticosteroids, Intravenous immunogfvlobulin (IVIG), thrombopoietin receptor agonists) or associated with anemia, bone pain, or Monoclonal gammopathy of undetermined significance (MGUS), it is reasonable to go for bone marrow biopsy to rule out malignancy before testing for Gaucher disease using enzymatic assay. Ancillary factors that should raise suspicion of Gaucher disease are gammopathies, bone pain, and hyperferritinemia. [Figure 1] illustrates the proposed algorithm for the diagnosis of adults with Gaucher disease.
Figure 1: Gaucher diagnostic algorithm for adults in Saudi Arabia. MGUS = Monoclonal gammopathy of unknown significance

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We discussed the cutoff value for the diagnosis of thrombocytopenia in the Saudi population. In the absence of locally validated platelet number for normal margins, we opted to consider if a platelet count of <150 × 109/L is enough to trigger testing for Gaucher disease.

Finding underlying mutations in patients with GD is important for:

  1. Genetic consulting
  2. Genotype/phenotype correlation, e.g., the N370S mutation which protects against neuronopathic GD, the D409H homozygosity that is associated with fetal cardiac disease.

Gaucher disease diagnostic algorithms in pediatric age groups

In the pediatric population, the panel especially pediatric hematologists reached a consensus agreement recommending a thorough investigation of splenomegaly causes, especially if it is of massive size before bone marrow biopsy. For that reason, they advise serology testing for infective pathway and/or peripheral blood film to see if there are abnormalities in other cell lines apart from thrombocytopenia. The patient journey for the pediatric age group is different from adults, and the parents are seeking medical help for other reasons such as intercurrent infections. Splenomegaly and thrombocytopenia are alarming signs for the general pediatrician that he or she will refer the patient to a pediatric hematologist or pediatric gastroenterologists. Hence, the general pediatrician plays a very important role in suspecting such cases and disease awareness; Continuous medical education (CME) will increase the screening as early as possible. Considering the presenting picture on referral, i.e., the presence of enlarged spleen +/− hepatomegaly associated with thrombocytopenia +/− anemia, the pediatric hematologist should not delay the bone marrow biopsy to rule out malignancy early and investigate the patient in a parallel approach for Gaucher disease if one or more symptom is present as shown in the algorithm in [Figure 2].
Figure 2: A diagnostic algorithm draft for early diagnosis in pediatric patients in Saudi Arabia

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The main objective for the parallel approach is mainly as many patients are coming from rural areas and it would be a huge financial and effort burden to bring them multiple times. This is a cost- and time-saving approach and will help more patients to reach a diagnosis in a timely manner.

Gaucher disease: Short- and long-term management goals

  • In the adult population, since splenomegaly is a fundamental sign for Gaucher disease diagnosis, which might overlap with liver cirrhosis, sickle cell disease and thalassemia, we recommend that portal hypertension, and hemoglobinopathies should be rolled out as an initial step in adults..[19]

Risk assessments parameters for adults and children with Gaucher disease in Saudi Arabia

The advisors reviewed and agreed to adopt the risk assessment and treatment stratification as proposed by the ICGG with minor modifications as indicated in [Table 2] and [Table 3]:
Table 2: Risk assessment model for adults with Gaucher disease frequency of assessment and monitoring

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Table 3: Gaucher disease: risk assessment model for children

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  • For pediatric risk assessment to use growth retardation instead of failure
  • For adult to specify the judgment of liver and spleen disease using MRI.

Frequency of assessment and monitoring

The authors agreed on the importance of higher frequency of assessment and monitoring, especially for patients not on ERT and those not achieving treatment goals yet [as per the below assessment and monitoring schedule depicted in [Table 4].
Table 4: Frequency of assessment and monitoring for Gaucher patients in Saudi Arabia[20]

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Monitoring is important to all patients, also those who are treated and stable, for following comorbidities and changes in treatment response.

Usually, ERT is given in hospitals; in case of home therapy, regular follow-up is also important to assess compliance to therapy.

Patients should go through comprehensive regular assessment and monitoring according to the locally modified ICGG recommendations for monitoring of patients with Gaucher disease.[20]

A new approach is available in some institutions which is the virtual clinic – where patients' needs can be handled without the need to travel long distances.

The unmet medical needs for Gaucher disease as identified in Saudi Arabia

Challenges and unmet medical needs are summarized in [Table 5].
Table 5: Unmet medical needs in the management of Gaucher disease in Saudi Arabia

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Differential diagnosis: Hematologic diseases causing Gaucher disease to be missed in Saudi Arabia

In addition to hematological malignancies that mimic Gaucher disease in certain clinical signs and symptoms, we considered adding sickle cell disease, thalassemia, and refractory ITP; further, we considered that hairy cell leukemia is probably least relevant. Multiple myeloma in the younger age group needs to be checked for Gaucher disease. [Table 6] depicts the similarity of Gaucher disease to a variety of benign and malignant hematological disorders. We recommend considering Gaucher disease as a differential diagnosis when encountered during day-to-day practice.
Table 6: Differential diagnosis of Gaucher disease[17],[21],[22],[23],[24],[25],[26],[27],[28],[29],[30],[31],[32],[33],[34]

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Consequences of diagnostic delay of Gaucher disease in Saudi Arabia

Diagnostic delay might cause complications listed in literatures such as pathological bone fractures, progressive liver disease, chronic bone pain, growth retardation, life threatening bleeding and severe sepsis.

Multiple visits in their journey searching for a definitive diagnosis

Increased recognition and earlier diagnosis may allow the initiation of appropriate treatment that can decrease morbidity, prevent development of irreversible complications, and improve early recognition of Gaucher disease by pediatric physicians since a safe and effective treatment is available.

Management of bone manifestations

We propose the following scheme illustrated in [Figure 3] for the diagnosis and management of bone manifestations.[35]
Figure 3: Diagnosis and management of bone manifestations in Gaucher disease

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  Discussion Top

Gaucher disease is underdiagnosed or misdiagnosed. Due to high consanguinity, especially in Saudi Arabia, and high rates of pregnancies, the actual prevalence can be higher than what is reported in the literature. We believe that, according to the global prevalence data, >150 cases are missed and that the current number of diagnosed cases does not reflect the actual prevalence.

Delayed diagnosis is the compelling issue with Gaucher disease in Saudi Arabia, and for that reason, we suggest the following actions:

  • Enhance the identification and referral for patients to tertiary care centers
  • Improve the patient access through increasing the number of centers of excellence treating Gaucher disease among the Kingdom
  • Identify the milestones of clinical presentation that can be used to facilitate adult and pediatric patients' diagnosis
  • Genetic consultation is a very important component in the assessment and follow-up of families with Gaucher Disease (GD) and also an important consequence of early diagnosis. Families with a child diagnosed with neuronopathic disease can be suggested pre-natal diagnosis/Preimplantation genetic diagnosis (PGD) before the birth of another child
  • Increase disease awareness among internists, general pediatricians, family medicine specialists, and hematologists
  • Increase access to enzyme assay by dried blood spot (DBS) test in the office and inpatient department
  • DBS can be also used for sequencing of the GBA gene for mutations
  • Gene mutation tested could be different from Saudi mutations as some patients are phenotype positive but not confirmed by genotype, and for that patients, there is a need to do gene sequencing
  • ERTs are still the current standard treatment for Gaucher disease in Saudi Arabia. ERTs enhance the quality of life and reverse growth retardation. It is safe and well tolerated[36]
  • ERTs improve patients' quality of life and help in decreasing the therapeutic cost[36]
  • The abstract of this manuscript was published at Blood Journal Volume 134, on November 13, 2019.[37]


  • Sanofi Genzyme offered logistical support for the development of this consensus statement.

Financial support and sponsorship

Sanofi Genzyme has provided advisory board honoraria for authors.

Conflicts of interest

Marwan ElBagoury and Omar Hussein are employees of Sanofi Genzyme.

  References Top

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  [Figure 1], [Figure 2], [Figure 3]

  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6]

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