Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life

Mello, Ricardo Andrade Fernandes de; Mello, Melissa Bosi Nonato; Pessanha, Laís Bastos; Fonseca, Ana Paula Alves

doi:10.1590/0100-3984.2020.0014

Ricardo Andrade Fernandes de Mello Correspondence: Dr. Ricardo Andrade Fernandes de Mello. Universidade Federal do Espírito Santo - Departamento de Clínica Médica. Avenida Marechal Campos, 1468, Nazareth. Vitória, ES, Brazil, 29047-105. Email: ricardoafmello@gmail.com.

Department of Internal Medicine, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brazil.

http://orcid.org/0000-0002-7723-189X

Melissa Bosi Nonato Mello

Centro Capixaba de Oncologia (Cecon), Vitória, ES, Brazil.

http://orcid.org/0000-0002-6284-1097

Laís Bastos Pessanha

Department of Internal Medicine, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brazil.

http://orcid.org/0000-0002-8998-3028

Ana Paula Alves Fonseca

Department of Internal Medicine, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brazil.

http://orcid.org/0000-0001-7112-7787

Correspondence: Dr. Ricardo Andrade Fernandes de Mello. Universidade Federal do Espírito Santo - Departamento de Clínica Médica. Avenida Marechal Campos, 1468, Nazareth. Vitória, ES, Brazil, 29047-105. Email: ricardoafmello@gmail.com.

Figures (2)
Tables (4)

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Figure 1
MRI of a 28-year-old woman with GD, showing extensive bone involvement with a high BMB score, together with splenomegaly (splenic volume of 2,323 cm³⁾. Sagittal T2-weighted (A) and T1-weighted (B) images of the lumbar spine, showing lower signal intensity in bone marrow than in the disc and presacral fat. After suppression of the fat surrounding the basivertebral veins, the signal intensity and extent scores were 4 and 3, respectively, resulting in an L-BMB score of 7. C: Coronal T1-weighted image of both femurs, which were scored 3 for signal intensity and 3 for the extent of involvement, infiltration of distal epiphyses being detected, resulting in an F-BMB score of 6. D: Coronal T2-weighted image of the abdomen, demonstrating massive splenomegaly, with multiple splenic infarcts.

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Figure 2
MRI of a 40-year-old man with GD who, despite having extensive bone involvement, did not show poor quality of life, as measured with the SF-36. Sagittal T1-weighted (A) and T2-weighted (B) images of the lumbar spine, showing lower signal intensity in bone marrow than in the disc and presacral fat. The signal intensity score was 5, and the extent score was 1 because the fat surrounding the basivertebral veins was not suppressed, resulting in an L-BMB score of 6. C: Coronal T1-weighted image of both femurs, which were scored 5 for signal intensity and 3 for the extent of involvement, infiltration of epiphyses being detected, resulting in an F-BMB score of 8.

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Table 1
F-BMB score, based on MRI signal intensity, together with the sites of femoral involvement.

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Table 2
L-BMB score, based on MRI signal intensity, together with the patterns of lumbar bone marrow infiltration by Gaucher cells.

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Table 3
Demographic characteristics and imaging aspects of the patients in the study population (n = 18).

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Table 4
Descriptive statistics for the variables.

Variable	Signal intensity^* * Determined in relation to the signal intensity of subcutaneous fat.	F-BMB score
MRI sequence
T2-weighted	Hyperintense	2
T2-weighted	Slightly hyperintense	1
T2-weighted	Isointense	0
T2-weighted	Slightly hypointense	1
T2-weighted	Hypointense	2
T2-weighted	Mixed type	3
T1-weighted	Slightly hyperintense or isointense	0
T1-weighted	Slightly hypointense	1
T1-weighted	Hypointense	2
Site of femoral involvement
Diaphysis		1
Proximal epiphysis/apophysis		2
Distal epiphysis		3

Variable	Signal intensity^* * Determined in relation to the signal intensity of healthy intervertebral discs.	L-BMB score
MRI sequence
T2-weighted	Hyperintense	2
T2-weighted	Slightly hyperintense	1
T2-weighted	Isointense	0
T2-weighted	Slightly hypointense	1
T2-weighted	Hypointense	2
T1-weighted	Slightly hyperintense	0
T1-weighted	Isointense	1
T1-weighted	Slightly hypointense	2
T1-weighted	Hypointense	3
Pattern of lumbar infiltration
Patchy		1
Diffuse		2
Absence of fat around the basivertebral veins		3

ID	Gender	Age (years)	L-BMB score	F-BMB score	BMB score	Splenic volume (cm³)	SF-36 score	Bone complications
1	Male	70	4	6	10	1,616	109.4	Bilateral femoral infarcts
2	Female	41	6	7	13	456	112.4	Bilateral femoral infarcts
3	Female	31	5	4	9	448	114.4	-
4	Male	17	3	3	6	317	120	-
5	Female	20	5	4	9	347	127.8	Femoral head avascular necrosis
6	Male	30	6	4	10	1,231	120.6	Femoral head avascular necrosis
7	Male	23	6	4	10	465	122.8	-
8	Female	65	3	8	11	-	121.5	Bilateral femoral infarcts and femoral head avascular necrosis
9	Male	40	6	8	14	-	118.8	Bilateral femoral infarcts
10	Female	61	5	6	11	323	105.4	Bilateral femoral infarcts
11	Female	32	6	6	12	801	93.8	-
12	Female	24	7	4	11	1,341	112.2	Bilateral femoral infarcts
13	Female	28	7	6	13	2,323	121	Bilateral femoral infarcts
14	Male	27	7	6	13	7,450	108.5	-
15	Male	27	4	2	6	218	114.3	-
16	Female	54	4	4	8	118	100	-
17	Female	50	4	0	4	78	120.5	-
18	Male	18	5	2	7	386	106.5	-

Variable	N	Mean	Median	Minimum	Maximum	Standard error
L-BMB score	18	5.17	5	3	7	1.29
F-BMB score	18	4.67	4	0	8	2.14
Total BMB score	18	9.83	10	4	14	2.79
Splenic volume (cm³)	16	1,119.88	452	78	7,450	1,799.37
SF-36 score	18	113.88	114.35	93.8	127.8	8.78

[1] Correspondence: Dr. Ricardo Andrade Fernandes de Mello. Universidade Federal do Espírito Santo - Departamento de Clínica Médica. Avenida Marechal Campos, 1468, Nazareth. Vitória, ES, Brazil, 29047-105. Email: ricardoafmello@gmail.com.

Brasil

Brasil

Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life

Envolvimento ósseo na doença de Gaucher: extensão do acometimento ósseo, volume esplênico e qualidade de vida

Abstract

Objective:

Materials and Methods:

Results:

Conclusion: