Diagnosis guide for clinicians
Gaucher disease: when to suspect it and what to test
Gaucher disease is an autosomal recessive lysosomal disorder in which deficient glucocerebrosidase lets glucosylceramide build up in macrophages, which collect in the bone marrow, liver, lungs, spleen and brain.GED-C Delphi consensus
GeneReviews describes a continuum from a perinatal-lethal form to type 1 disease with adult onset; type 1 has no primary central nervous system disease, while types 2 and 3 do.GeneReviews
In surveys published in 2007, more than two-thirds of 136 patients were evaluated and managed by a hematologist-oncologist, yet only 20% of 406 hematologist-oncologists considered Gaucher disease in the differential for all of its classic symptoms: cytopenia, hepatosplenomegaly and bone pain.2007 hematologist-oncologist survey
Red flags for Gaucher disease
What the cited sources describe, grouped by life stage and organ. Each line links to its source.
Blood and spleen (type 1, often seen first in hematology)
- Splenomegaly; the GED-C expert panel reached 100% consensus that it is a major sign of types 1 and 3, and it was the sign most often reported at diagnosis in its literature review.GED-C Delphi consensus
- In the ICGG Registry, 87% of patients have splenomegaly over five times normal, but older adults homozygous for N370S may have mild or no splenomegaly.2011 consensus algorithms
- Thrombocytopenia, anemia and leukopenia, present together or alone; GeneReviews calls cytopenias almost universal in untreated disease.GeneReviews
- Easy bruising or overt bleeding, particularly with trauma, surgery or pregnancy.GeneReviews
- Monoclonal or polyclonal gammopathy, a major type 1 sign in the GED-C Delphi consensus.GED-C Delphi consensus
- Unexplained stable hyperferritinemia with normal transferrin saturation, which the 2011 consensus algorithm lists as a reason to consider Gaucher disease in Ashkenazi Jewish patients even without splenomegaly.2011 consensus algorithms
- Hematologic features that appear or worsen in pregnancy; GeneReviews notes that some women are first diagnosed this way.GeneReviews
Liver and gut (gastroenterology and hepatology)
- Hepatomegaly, with or without abnormal liver enzymes, plus fibrosis or cirrhosis, portal hypertension, focal liver lesions or gallstones, as a hepatology review describes.Hepatology review
- Hyperferritinemia, hypergammaglobulinemia and metabolic abnormalities, which the same review says can lead to misdiagnosis as common chronic liver diseases.Hepatology review
- Gallstones; in a cohort of 417 affected people, gallstone prevalence was 32%, and they were more common in women.GeneReviews
- In Ashkenazi Jewish patients, the 2011 consensus says hyperferritinemia, low HDL cholesterol, premature gallstones, osteoporosis and gammopathy should alert the clinician.2011 consensus algorithms
- Acute abdominal pain from splenic infarction and, rarely, splenic rupture.GeneReviews
Bones and joints (orthopedics)
- Clinical or radiographic bone disease occurs in 70% to 100% of people with type 1 disease, ranging from osteopenia to lytic or sclerotic lesions and osteonecrosis.GeneReviews
- Bone crises: deep pain usually confined to one limb or joint, often with fever, leukocytosis and sterile blood cultures; radiographs may show periosteal elevation, which GeneReviews calls pseudo-osteomyelitis.GeneReviews
- Osteonecrosis, reported in up to 43% of adults in a UK cohort, is often multifocal and may be associated with puberty or pregnancy.Bone expert panel review
- Erlenmeyer flask deformity, mainly of the lower femur, is reported in up to 80% of adults with type 1 disease; a bone expert panel calls it a possible diagnostic clue that is not unique to Gaucher disease.Bone expert panel review
- Pathologic fractures and subchondral joint collapse with secondary degenerative arthritis.GeneReviews
- Osteonecrosis may be a presenting feature, and GeneReviews says Gaucher disease should be considered in children with suspected Legg-Calve-Perthes disease.GeneReviews
- Bone disease may not correlate with the severity of blood or organ findings.GeneReviews
Types 2 and 3 and infants (neurology and pediatrics)
- Type 2: onset before age 2 years with bulbar signs such as stridor, squint and swallowing difficulty, and pyramidal signs such as opisthotonos, head retroflexion, spasticity and trismus.GeneReviews
- Type 3: oculomotor apraxia, saccadic initiation failure and opticokinetic nystagmus; eye movement signs can be the only neurologic finding alongside massive hepatosplenomegaly.GeneReviews
- The GED-C panel names slow horizontal saccades with unimpaired vision, myoclonus epilepsy, impaired motor development and kyphosis as major type 3 signs, along with splenomegaly, thrombocytopenia, anemia, hepatomegaly and bone pain.GED-C Delphi consensus
- Seizures were reported in 16% and myoclonic seizures in 2% of 122 affected people in a study cited by GeneReviews.GeneReviews
- Ichthyosiform or collodion skin, or nonimmune hydrops fetalis, in the perinatal-lethal form.GeneReviews
- An out-of-range newborn screen: enzyme activity below the screening laboratory's cutoff on dried blood spots requires further testing to establish the diagnosis.GeneReviews
Ancestry and family history
- Ashkenazi Jewish ancestry and a family history of Gaucher disease are the major type 1 co-variables in the GED-C consensus.GED-C Delphi consensus
- Founder variants also occur in Spanish and Portuguese (p.Asn409Ser), Swedish (p.Leu483Pro), and Jenin Arab, Greek and Albanian (p.Asp448His) populations.GeneReviews
- Affected siblings or parental consanguinity; absence of a known family history does not preclude the diagnosis.GeneReviews
- A family history of Parkinson disease, which the GED-C panel classed as a minor type 1 co-variable.GED-C Delphi consensus
Often mistaken for
Diagnoses patients commonly carry first, and why the sources say they are confused.
| First diagnosis | Why it is confused |
|---|---|
| Leukemia or lymphoma | In one study cited by the 2011 consensus, the diagnoses most often considered were hematologic malignancies: leukemia in 65% and lymphoma in 36%.2011 consensus algorithms |
| Multiple myeloma or MGUS | Gammopathy is a Gaucher sign, and the 2011 consensus says the lifetime risk of multiple myeloma in Gaucher disease is higher than 25-fold, so the two can coexist.2011 consensus algorithms |
| Immune thrombocytopenia (ITP) | The 2011 consensus describes a man followed for 12 years with ITP who did not respond to steroids and was later found to have splenomegaly, hip avascular necrosis and Gaucher cells.2011 consensus algorithms |
| Cryptogenic cirrhosis or chronic liver disease | A consensus case was investigated for liver disease, had a splenectomy and was later diagnosed with cryptogenic cirrhosis; she remained undiagnosed for 38 years.2011 consensus algorithms |
| Hemochromatosis | Hyperferritinemia is common in Gaucher disease; one consensus case was diagnosed on a liver biopsy done for suspected hemochromatosis.2011 consensus algorithms |
| Autoimmune liver disease or fatty liver disease | A hepatology review names both, along with primary hemochromatosis, as misdiagnoses driven by hypergammaglobulinemia, hyperferritinemia and metabolic abnormalities.Hepatology review |
| Idiopathic avascular necrosis | It is on the 2011 consensus list of prior misdiagnoses; one consensus case had childhood back pain from avascular necrosis that was not investigated.2011 consensus algorithms |
| Legg-Calve-Perthes disease | Osteonecrosis may be a presenting feature of Gaucher disease, and GeneReviews says it should be considered in children with suspected Legg-Calve-Perthes disease.GeneReviews |
| Osteomyelitis | Bone crises can be confused with infectious osteomyelitis; a bone expert panel notes there is no bacteremia in a crisis and radionuclide bone scans are usually cold at first, against hot in osteomyelitis. The panel calls the term pseudo-osteomyelitis confusing and says it should be dropped, because the episode is a bone crisis.Bone expert panel review |
| Idiopathic splenomegaly or a splenic tumor | Focal splenic lesions occur in almost 20% of patients, rising with spleen size, and the 2011 consensus says they have been misdiagnosed as splenic neoplasms.2011 consensus algorithms |
| Acid sphingomyelinase deficiency or another storage disorder | GeneReviews lists several lysosomal disorders with hepatosplenomegaly, including Niemann-Pick disease types A, B and C, and says their distinct features and biochemical testing separate them.GeneReviews |
| Autoimmune disease, viral illness or anemia of chronic disease | All three appear on the 2011 consensus list of prior misdiagnoses drawn from 362 patients.2011 consensus algorithms |
Codes patients often carry before this diagnosis
For spotting the pattern in a problem list or registry. Descriptions are checked daily against NLM's ICD-10-CM service; this is not coding advice.
R16.1Splenomegaly is the sign the GED-C panel rated a major sign of types 1 and 3 with 100% consensus.GED-C Delphi consensus
R16.2Hepatosplenomegaly is a core type 1 finding in GeneReviews.GeneReviews
D69.6Thrombocytopenia is a major type 1 sign in the GED-C consensus.GED-C Delphi consensus
D69.3Immune thrombocytopenia is among prior misdiagnoses reported in the 2011 consensus.2011 consensus algorithms
D61.818GeneReviews links hypersplenism in Gaucher disease to pancytopenia.GeneReviews
D47.2, D89.0Monoclonal or polyclonal gammopathy is a major type 1 sign in the GED-C consensus.GED-C Delphi consensus
M87.050, M87.051, M87.052, M87.059Idiopathic avascular necrosis is among prior misdiagnoses reported in the 2011 consensus.2011 consensus algorithms
M91.10, M91.11, M91.12GeneReviews says Gaucher disease should be considered in children with suspected Legg-Calve-Perthes disease.GeneReviews
E83.119Hyperferritinemia in Gaucher disease can lead to misdiagnosis as primary hemochromatosis, according to a hepatology review.Hepatology review
What to test, step by step
The testing order the cited guidance describes, by who it applies to. It summarizes published guidance and is not a plan for any one patient.
Patients with unexplained splenomegaly, cytopenias, bone pain or hyperferritinemia
- The GED-C authors' suspicion rule
The Shire-funded GED-C authors suggest that at least two unexplained major signs, or one unexplained sign plus a co-variable, should prompt physicians to consider Gaucher disease, particularly if one factor is splenomegaly.GED-C Delphi consensus
Background on a published screening tool
- GED-C point-scoring system
The GED-C initiative proposed a point-scoring system to help clinicians identify which individuals to test for Gaucher disease; its authors called the weightings arbitrary and in need of validation. A Shire-funded study of 100 adults with Gaucher disease, liver disease, blood cancers or immune thrombocytopenia reported a preliminary validation.GED-C scoring system validation
Clinicians using the GED-C score
- Real-world check of the score
A Takeda-funded study of 265 patients and 3,445 matched controls in an Israeli health plan found that some individual features discriminated better than the overall score. The features it reported as most accurate were splenomegaly, a platelet count below 50×10⁹/L and ferritin of 300 to 1,000ng/mL.GED-C real-world study
Ashkenazi Jewish patients with splenomegaly and cytopenia
- Ashkenazi Jewish patients
The 2011 consensus calls it prudent to test for Gaucher disease as a first-line investigation, because Gaucher disease is more frequent than hematologic malignancy in this group.2011 consensus algorithms
Non-Ashkenazi patients with splenomegaly
- Other populations
The same algorithm considers malignancy the more likely cause and calls bone marrow biopsy reasonable in initial investigations, with a search for Gaucher cells as well as malignancy. It adds that the two are not mutually exclusive.2011 consensus algorithms
Anyone considered for splenectomy for splenomegaly of unknown cause
- Before splenectomy
The 2011 consensus says testing for Gaucher disease should become mandatory here, because splenectomy is associated with more aggressive liver, bone and lung disease.2011 consensus algorithms
Suspected Gaucher disease
- Supporting biomarkers
IWGGD laboratory guidelines say chitotriosidase activity, CCL18 or lyso-Gb1 can be used as a first-line test. If chitotriosidase alone is measured and is normal, a CHIT1 24bp duplication should be excluded and CCL18 or lyso-Gb1 measured. The guidelines add that the diagnosis still has to be established by enzyme assay in cells.IWGGD laboratory guidelines
Clinically suspected patients
- Dried blood spot enzyme screen
IWGGD calls dried blood spot glucocerebrosidase activity a useful first-line test. Results below the cutoff always need confirmation in leukocytes or fibroblasts, and the diagnosis should never rest on the spot alone.IWGGD laboratory guidelines
Confirmation of the diagnosis
- Leukocyte glucocerebrosidase activity
GeneReviews says 0% to 15% of normal activity in peripheral blood leukocytes or other nucleated cells establishes the diagnosis. It also recommends confirming deficient enzyme activity in people found to have biallelic GBA1 variants.GeneReviews
- Gold standard samples
IWGGD calls leukocyte or cultured fibroblast homogenates the gold standard, and says activity below 15% of mean normal in these samples confirms the diagnosis.IWGGD laboratory guidelines
Recently transfused patients or discordant leukocyte results
- Cultured skin fibroblasts
IWGGD says fibroblasts should be used when a patient has received blood transfusions or white cell results are discordant. Growth to a usable culture generally takes about 3 weeks.IWGGD laboratory guidelines
Patients with low enzyme activity, and their families
- GBA1 sequencing
IWGGD highly recommends GBA1 analysis after low enzyme activity, to support the diagnosis and provide genetic counseling. It says GBA1-specific long-template amplification with Sanger sequencing, or NGS designed to avoid pseudogene misalignment, should be the primary molecular test.IWGGD laboratory guidelines
Patients tested genetically before enzyme
- Gene testing as the first test
IWGGD says genetic testing can come first, but the chance of finding variants of uncertain significance is high, and when one is found, confirming enzyme activity in the patient's cells is mandatory.IWGGD laboratory guidelines
One or no variant found by sequencing
- Deletion/duplication analysis
GeneReviews reports that sequencing finds about 99% of pathogenic variants and lists gene-targeted deletion/duplication analysis next. It notes that MLPA may miss changes in regions shared with the GBAP1 pseudogene, where quantitative PCR, long-range PCR or Southern blotting may be used.GeneReviews
Gaucher phenotype, raised chitotriosidase and lyso-Gb1, normal or low enzyme activity in cells, and no GBA1 variants
- Gaucher-like picture without GBA1 variants
IWGGD says saposin C deficiency should then be suspected and the PSAP gene analyzed, because the in vitro enzyme assay can read reduced or even normal in this condition.IWGGD laboratory guidelines
Diagnostic workup in general
- Bone marrow examination
The 2011 consensus says routine bone marrow examination is not necessary for diagnosis and has been discouraged, citing the less invasive enzyme test and bleeding risk. It says biopsy may occasionally be indicated in a patient with Gaucher disease suspected of a superimposed blood disorder such as myelofibrosis or multiple myeloma.2011 consensus algorithms
Suspected types 2 or 3
- Neurologic assessment
GeneReviews notes that people with at least one p.Asn409Ser (N370S) variant do not develop primary neurologic disease, while p.Leu483Pro (L444P) homozygotes tend to have severe disease, often neurologic, although some, including adults, have had no overt neurologic problems. It adds that a normal EEG, BAER or brain MRI does not exclude neurologic involvement.GeneReviews
Adults with type 1 disease being considered for Cerdelga
- CYP2D6 genotype before eliglustat
The Cerdelga label covers adults with type 1 disease who are CYP2D6 extensive, intermediate or poor metabolizers as detected by an FDA-cleared test. It says ultra-rapid metabolizers may not reach adequate concentrations, and no dosage can be recommended for indeterminate metabolizers.Cerdelga label
Adults and children with type 1 or type 3 disease
- Label scope: imiglucerase
The Cerezyme label covers treatment of non-CNS manifestations of type 1 or type 3 Gaucher disease in adults and pediatric patients.Cerezyme label
Patients with type 1 disease
- Label scope: velaglucerase alfa
The VPRIV label covers long-term enzyme replacement therapy for patients with type 1 Gaucher disease.VPRIV label
Patients 4 years and older with type 1 disease
- Label scope: taliglucerase alfa
The Elelyso label covers patients 4 years of age and older with a confirmed diagnosis of type 1 Gaucher disease.Elelyso label
Adults with type 1 disease
- Label scope: miglustat
The Zavesca label covers monotherapy for adults with mild to moderate type 1 disease for whom enzyme replacement is not a therapeutic option, for example due to allergy, hypersensitivity or poor venous access.Zavesca label
Where testing goes wrong
- A normal or absent spleen does not exclude Gaucher disease; the 2011 consensus notes this is often the case in older adults homozygous for N370S.2011 consensus algorithms
- Mild cytopenia and splenomegaly in N370S homozygotes often escape initial detection, according to the same consensus.2011 consensus algorithms
- False negative marrow results are common, especially on aspirate as opposed to biopsy.2011 consensus algorithms
- Pseudo-Gaucher cells occur in multiple myeloma, myelodysplasia, chronic myeloid leukemia, tuberculosis, other mycobacterial infections and sickle cell disease, and can lead to an erroneous diagnosis.2011 consensus algorithms
- A bone expert panel, in a paper whose meeting and writing support Sanofi Genzyme funded, says aspiration biopsy should not be used to diagnose Gaucher disease.Bone expert panel review
- Raised ACE, TRAP, chitotriosidase or CCL18 is never sufficient for diagnosis, because these markers rise in other disorders.2011 consensus algorithms
- Dried blood spot enzyme testing has good sensitivity and specificity but a low positive predictive value, under 45% on average, per IWGGD.IWGGD laboratory guidelines
- IWGGD says a patient with suggestive symptoms must be reassessed even after a normal dried blood spot result.IWGGD laboratory guidelines
- About one in 20 people with Gaucher disease is homozygous for the CHIT1 null duplication and has near-absent chitotriosidase activity.IWGGD laboratory guidelines
- Enzyme testing cannot reliably identify carriers, since heterozygote activity overlaps with that of healthy controls; IWGGD calls molecular testing of the family variants the most reliable method.IWGGD laboratory guidelines
- A negative screen for common GBA1 variants does not exclude Gaucher disease; the 2011 consensus recommends sequencing the entire coding region when suspicion is strong.2011 consensus algorithms
- IWGGD says standard NGS panel workflows are not suitable for detecting large deletions or recombinant alleles, and that point variants found by NGS should always be confirmed by Sanger sequencing.IWGGD laboratory guidelines
- Older papers use legacy numbering: p.Asn409Ser is N370S and p.Leu483Pro is L444P.GeneReviews
- Residual enzyme activity does not correlate with disease type or severity.GeneReviews
- Sources differ on sample handling. The 2011 consensus describes a 10cc EDTA blood sample shipped at ambient temperature by overnight delivery.2011 consensus algorithms
- IWGGD instead says blood should be shipped to the reference laboratory at 4°C, with leukocytes isolated within 24 hours, and that each laboratory should set its own cutoff, normal and disease ranges.IWGGD laboratory guidelines
- In a patient with bleeding, the 2011 consensus says coagulopathies such as factor XI deficiency, common in Ashkenazi Jewish people, should be excluded.2011 consensus algorithms
Where to test
- NIH Genetic Testing Registry: Gaucher disease: Lists clinical tests that laboratories submit for Gaucher disease, including enzyme assays, full-gene sequencing and deletion/duplication analysis. The listings come from the laboratories themselves.NIH GTR
- Leukocyte or fibroblast enzyme assay through an expert laboratory: IWGGD calls these the gold standard for confirming the diagnosis and asks that reports include an interpretation, test limitations and any recommended further testing.IWGGD laboratory guidelines
- Dried blood spots for clinics without in-house testing: IWGGD says dried blood spots can be sent to external laboratories with Gaucher expertise, with careful pre-analytical handling, and that results need confirmation.IWGGD laboratory guidelines
Family screening and referral
Who else in the family
- When both parents are heterozygous, each sibling has a 25% chance of being affected, a 50% chance of being a heterozygote and a 25% chance of inheriting neither variant.GeneReviews
- In some families an asymptomatic parent is found to be homozygous rather than heterozygous.GeneReviews
- GeneReviews says it is appropriate to offer testing to asymptomatic at-risk relatives so that those affected can benefit from early diagnosis and treatment if indicated.GeneReviews
- IWGGD says testing of familial variants and genetic counseling should be available to all at-risk family members, with pre-test and post-test counseling by a counselor experienced in Gaucher disease.IWGGD laboratory guidelines
- IWGGD recommends confirming segregation by identifying the variants in the parents.IWGGD laboratory guidelines
- A 2011 consensus case was found through family screening after her sister's diagnosis, and her severe bone disease was missed because attention focused on mild blood and organ findings.2011 consensus algorithms
- Carrier testing, prenatal testing and preimplantation genetic testing are possible once the family GBA1 variants are known.GeneReviews
- Family studies cited by GeneReviews suggest that parkinsonism is more common in obligate GBA1 heterozygotes than in non-carriers.GeneReviews
Who to refer to
- GeneReviews recommends management by a multidisciplinary team at a Gaucher Comprehensive Treatment Center where possible, and points to the National Gaucher Foundation's list of centers.GeneReviews
- The GED-C authors say investigating possible Gaucher disease may require specialist referral, and that specialist involvement is highly recommended after a positive diagnosis.GED-C Delphi consensus
- In 2 surveys reported in 2017 by authors who included 2 Shire employees, the main specialties patients first presented to were primary care, hematology or hematology-oncology, and pediatrics, and patients reported multiple referrals before diagnosis.2017 patient journey surveys
- The GED-C paper notes that patients may see up to 8 specialists before diagnosis, including gastroenterologists, geneticists, neurologists, orthopaedists and rheumatologists.GED-C Delphi consensus
- A Turkish hematology review notes that most patients are first referred to hematologists with a differential of leukemia, lymphoma or immune thrombocytopenia.Turkish hematology review
- A hepatology review says hepatologists and gastroenterologists need to be aware of Gaucher disease because splenomegaly and thrombocytopenia often lead to first contact.Hepatology review
- GeneReviews recommends evaluation by a hematologist before delivery for pregnant women with Gaucher disease.GeneReviews
Find a specialist by state
From the CMS NPI Registry, a public directory of US clinicians by registered specialty. A listing is not an endorsement and says nothing about experience with Gaucher disease; patient organizations and academic centers can often name experienced clinicians.
ICD-10-CM codes for Gaucher disease
For orders, referrals and prior authorization. Each code is checked daily against NLM's ICD-10-CM service.
Once the diagnosis is confirmed
For the patient: why your doctor ordered this test
Plain language a patient can read or take home.
Your doctor ordered this test because some of your results can be a sign of Gaucher disease. It is a rare illness that runs in families.
With Gaucher disease, the body does not make enough of an enzyme that breaks down a fatty substance. The fat builds up in the spleen, liver and bones.
This can cause a large spleen, low blood counts, easy bruising, tiredness and bone pain.
A blood test checks how well the enzyme works. A gene test looks for changes in a gene called GBA1.
Most people do not need a bone marrow biopsy to find out if they have Gaucher disease. The blood test is the main test.
If you have Gaucher disease, your brothers, sisters and other relatives may want testing too, even if they feel fine.
Questions clinicians ask about Gaucher disease testing
What test confirms Gaucher disease?
Deficient glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, at 0% to 15% of normal, or biallelic pathogenic GBA1 variants establish the diagnosis, per GeneReviews (updated December 7, 2023). IWGGD laboratory guidelines call leukocyte or fibroblast enzyme assays the gold standard and highly recommend GBA1 analysis after a low result. GeneReviews also recommends confirming enzyme deficiency in people found to have biallelic GBA1 variants.
Is a bone marrow biopsy needed to diagnose Gaucher disease?
No; the 2011 consensus in the American Journal of Hematology, supported by a Genzyme grant, says routine bone marrow examination is not necessary and has been discouraged. It cites the less invasive enzyme test, bleeding risk, common false negatives on aspirate and pseudo-Gaucher cells in other diseases. For non-Ashkenazi patients, where malignancy is the more likely cause of splenomegaly, its algorithm still calls marrow biopsy reasonable in initial investigations and says the search should cover Gaucher cells as well as malignancy.
Can a dried blood spot test diagnose Gaucher disease?
Not on its own, according to IWGGD laboratory guidelines. They call dried blood spot enzyme testing a useful first-line test, but say results below the cutoff always need confirmation in leukocytes or fibroblasts. They report a low positive predictive value and say symptomatic patients must be reassessed even after a normal spot result.
When should Gaucher disease be considered in a patient with splenomegaly or thrombocytopenia?
Published sources name unexplained splenomegaly, thrombocytopenia, anemia, bone pain, hyperferritinemia, hepatomegaly and gammopathy, especially with Ashkenazi Jewish ancestry or a family history. The Shire-funded GED-C authors suggest considering it when at least two of these signs are unexplained, or one unexplained sign occurs with a co-variable, particularly if one is splenomegaly. The Genzyme-supported 2011 consensus says testing should become mandatory before splenectomy for splenomegaly of unknown cause.
What is the GED-C scoring system?
It is a point-scoring tool from the Gaucher Earlier Diagnosis Consensus initiative, built to help non-specialists decide which patients to test for Gaucher disease. Its weightings were first proposed as arbitrary and needing validation, and a Shire-funded study then gave it preliminary validation. A Takeda-funded real-world study found that some individual features discriminated better than the overall score. This page does not reproduce its point values.
Which FDA labels cover Gaucher disease?
Cerezyme covers non-CNS manifestations of type 1 or type 3 disease in adults and pediatric patients, per its DailyMed label effective August 27, 2026. VPRIV covers type 1 disease and Elelyso covers confirmed type 1 disease from age 4 years. Cerdelga covers adults with type 1 disease who are CYP2D6 extensive, intermediate or poor metabolizers by an FDA-cleared test, and Zavesca covers adults with mild to moderate type 1 disease when enzyme replacement is not a therapeutic option. FDA label records also list Yargesa and generic miglustat with the same indication as Zavesca.
What is the ICD-10 code for Gaucher disease?
The ICD-10-CM code is E75.22, Gaucher disease, per the National Library of Medicine's ICD-10-CM lookup checked November 9, 2026.
Sources
- Gaucher Disease. GeneReviews, University of Washington, Seattle, via NCBI Bookshelf (NBK1269); Hughes DA, Pastores GM, 2023-12-07.
- Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms. American Journal of Hematology 2011;86(1):110-115 (Mistry PK et al; supported by an unrestricted educational grant from Genzyme Corporation), via PubMed Central, 2011-01.
- Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Internal Medicine Journal 2019;49(5):578-591 (Mehta A et al; funded by unrestricted educational grants from Shire International GmbH), via PubMed Central, 2019-05.
- Scoring system to facilitate diagnosis of Gaucher disease. Internal Medicine Journal 2020;50(12):1538-1546 (Mehta A et al; funded by grants from Shire International GmbH, now part of Takeda), via PubMed Central, 2020-12.
- Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data. Orphanet Journal of Rare Diseases 2024;19:71 (Revel-Vilk S et al; funded by Takeda), via PubMed Central, 2024-02-16.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1. Orphanet Journal of Rare Diseases 2022;17:442 (Dardis A et al, International Working Group of Gaucher Disease; funding stated as not applicable), via PubMed Central, 2022-12-21.
- Gaucher Disease in Bone: From Pathophysiology to Practice. Journal of Bone and Mineral Research 2019;34(6):996-1013 (Hughes D et al; expert meeting, literature screening and writing support funded by Sanofi Genzyme), via PubMed Central, 2019-06.
- Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. American Journal of Hematology 2007;82(8):697-701 (Mistry PK et al; PubMed lists an NIDDK grant and non-US-government support without naming the funder), via PubMed abstract, 2007-08.
- Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Molecular Genetics and Metabolism 2017;122(3):122-129 (Mehta A et al; two authors employed by Shire, copyright shared with Shire HGT), via PubMed abstract, 2017-11.
- Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist. Digestive and Liver Disease 2020;52(4):368-373 (Carubbi F et al; funding not shown in the PubMed record), via PubMed abstract, 2020-02-11.
- Gaucher Disease for Hematologists. Turkish Journal of Hematology 2022;39(2):136-139 (Ozdemir GN, Gunduz E; no financial support declared), via PubMed Central, 2022-06-01.
- DailyMed - CEREZYME- imiglucerase injection, powder, lyophilized, for solution. Genzyme Corporation, via DailyMed, 2026-08-27.
- DailyMed - VPRIV- velaglucerase alfa injection, powder, lyophilized, for solution. Takeda Pharmaceuticals America, via DailyMed, 2024-11-26.
- DailyMed - ELELYSO- taliglucerase alfa injection, powder, lyophilized, for solution. Pfizer Laboratories Div Pfizer Inc, via DailyMed, 2025-12-29.
- DailyMed - CERDELGA- eliglustat capsule. Genzyme Corporation, via DailyMed, 2024-03-03.
- DailyMed - ZAVESCA- miglustat capsule. Actelion Pharmaceuticals US, via DailyMed, 2023-04-20.
- Gaucher disease (GTR condition record, MedGen C0017205). National Center for Biotechnology Information, NIH, 2026-11-09.
- ICD-10-CM search results for "gaucher" (Clinical Table Search Service). National Library of Medicine, 2026-11-09.
A reference for licensed professionals, checked against its sources on November 9, 2026. It summarizes what the cited guidance says and does not tell anyone how to diagnose or treat a specific patient. Guidelines change; the current guideline and the treating clinician's judgment govern. Trial Friend is an independent information service, not a medical provider.