Gaucher disease Type 1 is a heterogeneous disorder that requires patient-centric disease management; however, with the availability of effective therapies, patients can demonstrate improvements in many of the long-term signs and symptoms of the disease.1The availability of these treatments differs between countries. For further information, please consult your local prescribing information. A suggested current approach for the management of paediatric and adult patients with Gaucher disease Type 1 is outlined in Figures 1 and 2.

Figure 1.
Suggested treatment approach for the management of paediatric patients with Gaucher disease Type 1. Reproduced with permission from Revel-Vilk S et al. Br J Haematol 2018; 182: 467-480.2

Figure 2.
Suggested treatment approach for the management of adult patients with Gaucher disease Type 1. Reproduced with permission from Revel-Vilk S et al. Br J Haematol 2018; 182: 467-480.2

YOUR OPINION

Are you familiar with therapeutic goals for the treatment of Gaucher disease Type 1?

Thank you for your response

Alongside pharmacological treatment for Gaucher disease, complementary therapies such as physical therapy or orthopaedic measures to restore bone complications associated with the disease (e.g. fractures or destroyed hip joints) may be used.3 Clinicians should encourage self-management education to help patients understand their disease and treatment options, cope with symptoms, manage medications, and communicate with clinicians.4

How should Gaucher disease Type 1 be monitored following treatment?

The effectiveness of treatment for Gaucher disease Type 1 is usually determined by assessing haemoglobin concentrations, platelet counts, reductions in spleen and liver volumes, and parameters of bone disease.5 Therapeutic goals for Gaucher disease Type 1 were published in 2004 (Table 1).6 These therapeutic goals have been expanded upon, and in 2018, management recommendations for Gaucher disease Type 1 to include long-term disease complications, associated diseases and patient-reported outcome measures were published. These short-term and long-term consensus management goals for Gaucher disease Type 1 are presented in Tables 2 and 3, respectively. These goals were also further subdivided into those relating to enzyme replacement therapy or substrate reduction therapy, and those that involved more general management of the disease.5

 

Table 1.
Therapeutic goals for the treatment of Gaucher disease Type 1. Reproduced with permission from Pastores GM et al. Semin Hematol 2004; 41: 4-14.6

Management of Gaucher disease Type 1

 

  • Eliminate blood transfusion dependency
  • Increase haemoglobin levels within 12‒24 months to >11.0 g/dL for women and children, and >12.0 g/dL for men

 

  • Increase platelet counts during the first year of treatment sufficiently to prevent surgical, obstetrical and spontaneous bleeding
  • In patients with splenectomy: normalisation of platelet count by 1 year of treatment
  • In patients with an intact spleen: achieve platelet count of ≥100,000/mm3 by 3 years of treatment

 

  • Lessen bone pain that is not related to irreversible bone disease within 1‒2 years
  • Decrease bone marrow involvement, as measured by a locally used scoring system (e.g. Bone Marrow Burden Score or Düsseldorf Gaucher Score) in patients without severe irreversible bone disease at baseline
  • Increase bone mineral density within 2 years in adult patients with a T-score below −2.5 at baseline
  • Attain normal or ideal peak skeletal mass in children
  • Normalise growth such that the height of the patient is in line with target height, based upon population standards and parental height, within 2 years of treatment

 

  • Avoid splenectomy (may be necessary during life-threatening haemorrhagic events)
  • Alleviate symptoms due to splenomegaly: abdominal distension, early satiety or new splenic infarction
  • Eliminate hypersplenism
  • Reduce spleen volume to <2‒8-times normal (or, in the absence of volume-measurement tools, reduce spleen size) by Year 1–2, depending on baseline spleen volume
  • Reduce the liver volume to 1.0‒1.5-times normal (or, in absence of volume-measurement tools, aim for normal liver size) by Year 1–2, depending on baseline liver volume

 

  • Improve scores from baseline as measured by a validated quality-of-life instrument within 2‒3 years or less, depending on disease burden
  • Reduce fatigue (not anaemia-related) as measured by a validated fatigue-scoring system
  • Improve or restore physical function for carrying out normal daily activities and fulfilling functional roles

Table 2.
Short-term management goals related to treatment for Gaucher disease Type 1. Reproduced with permission from Biegstraaten M et al. Blood Cells Mol Dis 2018; 68: 203-208.5

Management of Gaucher disease Type 1

  • Maintain improved haemoglobin values achieved after the first 12‒24 months of therapy
  • Maintain platelet count of ≥100,000/mm3
  • Reduce increased bleeding tendency, whether caused by low platelet numbers, platelet defects or coagulation abnormalities

 

  • Prevent bone complications: avascular necrosis, bone crises, bone infarcts and pathological fractures
  • Prevent osteopaenia and osteoporosis (i.e. maintain bone mineral density T-scores [dual-energy X-ray absorptiometry] of greater than −1)
  • Prevent chronic use of analgesic medication for bone pain
  • Maintain normal mobility or, if impaired at diagnosis, improve mobility
  • Increase physical activity

 

  • Maintain spleen volume of <2‒8-times-normal after Year 1–2
  • Maintain (near-) normal liver volume after Year 1–2
  • Prevent liver fibrosis, cirrhosis and portal hypertension

 

  • Prevent or improve pulmonary disease, such as pulmonary hypertension and hepatopulmonary syndrome

 

  • Maintain good quality of life as measured by a validated instrument
  • Maintain normal participation in school and work activities
  • Minimise psychosocial burdens of life-long treatment
  • Achieve normal onset of puberty
  • Normalise life expectancy

 

  • Prevent Gaucher disease-related complications during pregnancy and delivery

Table 3.
Long-term management goals related to treatment for Gaucher disease Type 1. Reproduced with permission from Biegstraaten M et al. Blood Cells Mol Dis 2018; 68: 203-208.5

During development of the short-term and long-term management goals for Gaucher disease Type 1, the consensus panel generally agreed that in terms of anaemia, bleeding tendency, bone disease, liver and spleen involvement, and pulmonary complications, physicians should aim for (near-) restoration of normal values. Moreover, complications associated with these clinical parameters should be prevented, and signs and symptoms should be eliminated or reduced. The early detection of malignancies, Parkinson’s disease or parkinsonism, and (pre-) diabetes should be aimed for, because prompt initiation of appropriate additional care or treatment would likely be beneficial to patients.5

Improvements in quality of life, reduced fatigue, and normal participation in school or work activities should also be strived for. It is considered that patient and family education about the disease and treatment options is good clinical practice; although, not necessarily a management goal.5

YOUR OPINION

Having read the content above will you actively utilise these therapeutic goals when developing treatment plans for your patients with Gaucher disease Type 1?

Thank you for your response

C-ANPROM/INT//7568; Date of preparation: September 2020

 
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