The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises

Andrade‐Campos, Marcio; Valero, Esther; Roca, Montserrat; Giraldo, Pilar

doi:10.1016/j.bcmd.2016.10.004

Cited by 12 publications

(13 citation statements)

References 18 publications

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“…Two observations, already accepted in Gaucher research, were also con rmed in this machine-learning study: rst, the fact that spleen-removal patients have a higher risk of presenting more serious and extensive bone disease; second, our observation that almost all patients with new bone crisis -despite having received long-term ERT -had previous bone lesions, which remind us that the most feared complication in GD1 are not solved merely by starting ERT. These two facts con rm previous reports and provide validity of our analysis (39,(42)(43)(44). In addition, genotypes different from homozygous NM_000175.4:c.1226A > G are signi cantly correlated with bone disease (p = 0.05).…”

Section: Discussionsupporting

confidence: 91%

Identification of risk features for complication in Gaucher’s Disease patients: A Machine Learning analysis of the Spanish Registry of Gaucher Disease.

Andrade‐Campos

Frutos

Cebolla

et al. 2020

Preprint

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Background Since enzyme replacement therapy (ERT) for Gaucher disease (GD) (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at risk of developing bone crisis during therapy and late complications such as cancer or parkinsonism. The Spanish Gaucher Disease Registry (SGDR) has worked since 1996 to compile demographic, clinical, genetic, analytical, imaging and follow-up data from more than 400 GD patients. The aims of this study were to discover correlations between patients’ characteristics at diagnosis and to identify risk features for the development of late complications; for this a machine learning approach involving network and decision trees analysis was applied. Results A total of 358 GD patients, 340 GD1 and 18 GD3 cases were selected. 18% were splenectomyzed and 39% had advanced bone disease. 81% of cases carried heterozygous genotype. 47% of them were diagnosed before the year 2000. Mean age at diagnosis and therapy were 28 and 31.5 years old (y.o.) respectively. 4% developed MGUS or Parkinson Disease, 6% cancer, and 10% died before this study. Previous splenectomy correlates with the development of skeletal complications and severe bone disease (p = 0.005); serum levels of IgA, delayed age at ERT start (> 9.5 y.o.since diagnosis) also correlates with severe bone disease at diagnosis and with the incidence of bone crisis during ERT. High IgG (> 1750 mg/dL) levels and age over 60 y.o. at diagnosis were found to be related with the development of cancer. When modelling the decision tree, patients with a delayed diagnosis and therapy were the most severe and with higher risk of complications. Conclusions Our work confirms previous observations, highlights the importance of early diagnosis and therapy and identifies new risk features such as high IgA and IgG levels for long-term complications.

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Section: Discussionsupporting

confidence: 91%

Identification of risk features for complication in Gaucher’s Disease patients: A Machine Learning analysis of the Spanish Registry of Gaucher Disease.

Andrade‐Campos

Frutos

Cebolla

et al. 2020

Preprint

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“…La RM abdominal es el examen de elección para evaluar las dimensionesy morfología de bazo e hígado 13 así como el daño óseo. Cuantifica el grado de infiltración ósea, evalúa el alcance de las lesiones, su temporalidad y la reducción del grado de infiltración durante la enfermedad 14 . Las radiografías óseas son útiles para el diagnóstico y el seguimiento de lesiones sintomáticas, la osteonecrosis y la valoración de fracturas, artrosis y osteosíntesis.…”

Section: Discussionunclassified

Enfermedad de Gaucher: una enfermedad multisistémica

Gallego¹,

Castro²,

Alvarez³

2021

Gal. Clin.

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La enfermedad de Gaucher es un trastorno autosómico recesivo raro debido a la ausencia de la enzima glucocerebrosidasa, produciéndose acumulación de glucocerebrósidos en el sistema retículo endotelial. Se manifiesta por hepatoesplenomegalia, alteraciones hemáticas, neurológicas y óseas. Presentamos el caso de una paciente de 19 años de edad que ingresa por dolor abdominal generalizado, cansancio y debilidad, encontrándose hallazgos concordantes con una afectación infiltrativa en vertebras y ambas diáfisis femorales junto con necrosis avascular de ambas cabezas femorales. Se evidenciaron niveles de β glucosidasa disminuidos, y en el estudio genético se encontró la mutación p.Asn409Ser en homocigosis. La terapia de reemplazo enzimático logró normalización de cifras hematológicas al cabo de 6 meses y de tamaño de bazo e hígado al cabo de 1 año.

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“…Bone affectation is today a well-known and growing area of research on Gaucher disease. There are studies of bone disease pathophysiology, mechanisms of bone infiltration and microenviroment changes, and vascular intraosseous events; decreased bone density has also been extensively examined [1, 4, 5]. Nevertheless, the muscle-tendon function has been little explored in patients with Gaucher disease.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, there are several factors such as anemia, pain, depression, anxiety, sleep disturbances, emotional distress, physical activity, or medication side effects that could be involved [2, 3]). Bone disease is present in over 70% of the GD patients; in addition, peripheral neuropathy has been described in about 11% of them, which contributes to the disabling and debilitating complications in GD1 [4, 5]. However, other factors including muscle-tendinous weakness could have influence in the development of fatigue.…”

Section: Introductionmentioning

confidence: 99%

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

Roca-Espiau¹,

Andrade‐Campos²,

Cebolla³

et al. 2019

J Orthop Surg Res

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BackgroundChronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11% of the patients, which contributes to the disabling and debilitating complications. Our hypothesis is that other factors such as muscle-tendinous weakness could have influence in the development of CFg.MethodsWe have evaluated the fiber structure and elasticity of muscle-tendinous unit by strain-elastography (S-ELA) and analyzed their influence in the CFg. S-ELA study was performed in Achilles tendon in 25 type 1 and two type 3 GD patients, all of them with fatigue and were on enzymatic replacement therapy for mean 13 years; simultaneously, bone marrow burden by MRI and calcaneus ultrasound densitometry were evaluated. Blood cell counts, plasma biomarkers, GBA1 genotyping, and SF36 quality of life scale (QoL) were also performed. Statistical analysis: descriptive and comparative test.ResultsAll patients showed a normal Achilles tendinous structure. Abnormal stiff grade 2–3 was found in 17/27 (62.9%); in 11/27 (40.7%) of patients, the alteration was bilateral. There were no correlations between the S-ELA results to other variables; nevertheless, a significant correlation between the degree of tendon hardness and the low score on the QoL scales (p = 0.0035) was found. The S-ELA is a sensitive painless, fast, and low cost method to detect muscle-tendinous subclinical dysfunction that could contribute to CFg in GD. The identification of subclinical tendon alteration would be a sign of alarm, focused on the risk of development of bone complications.ConclusionIntratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.

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The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises

Cited by 12 publications

References 18 publications

Identification of risk features for complication in Gaucher’s Disease patients: A Machine Learning analysis of the Spanish Registry of Gaucher Disease.

Identification of risk features for complication in Gaucher’s Disease patients: A Machine Learning analysis of the Spanish Registry of Gaucher Disease.

Enfermedad de Gaucher: una enfermedad multisistémica

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

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