The use of Achilles tendon ultrasonography for the diagnosis of familial hypercholesterolemia

Descamps, Olivier; Leysen, X; Leuven, Fred Van; Heller, F.

doi:10.1016/s0021-9150(01)00533-0

Cited by 68 publications

(72 citation statements)

References 18 publications

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“…These gender differences have been observed in other studies 11,14,16,26 and may be explained by the usually higher musculoskeletal development in men. Supporting prior results in control subjects, 26 AT size was related to body weight, a plausible finding given the body support function that AT plays in skeletal physiology.…”

Section: Discussionsupporting

confidence: 78%

“…genetic dyslipidemias other than FH and similar to those of normolipidemic subjects, and provide thickness thresholds for diagnosing FH, which are validated in other sets of FH and non-FH subjects. Although highly variable, the clinical prevalence of tendon xanthomas is Ͻ50% in unselected series of FH adults, whether diagnosed by DNA testing 5,6,16,24 or by clinical criteria alone. 7,25 Clinical detection in our FH subjects was within this range (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…Tendon xanthomas are a key feature for the clinical diagnosis of FH, 8,10 but identification by physical examination is subjective and based on clinical experience, and may be difficult in borderline cases. Ultrasonography has been shown to accurately measure AT thickness, which is enlarged when xanthomas are present [11][12][13][14][15][16] and, using state-of-the-art musculoskeletal sonography and a careful technique, it also detects echostructural abnormalities that are diagnostic of xanthoma in tendons not injured previously. 10 -15,22 By using this technique, we observed no sonographic AT xanthomas in either control or non-FH subjects, but detected them in a sizeable proportion of FH subjects (40% and 24% in those with and without DNA diagnosis, respectively).…”

Section: Discussionmentioning

confidence: 99%

“…Sonographic AT enlargement in FH compared with non-FH subjects has been found in other studies. 13,16 However, Ebeling et al 13 compared FH subjects with a pooled group of severe non-FH hypercholesterolemia, whereas Descamps et al 16 used a pool of control subjects and non-FH dyslipidemia as a comparator. Our findings have important implications for the use of AT sonography in the differential diagnosis of severe hypercholesterolemia when tendons are not unambiguously enlarged at physical examination.…”

Section: Discussionmentioning

confidence: 99%

“…Ultrasonography, a simple, affordable, and rapid imaging technique, has been used to reproducibly assess AT thickness and improve on the clinical diagnosis of xanthomas. [11][12][13][14][15][16] However, the ultrasound characteristics of AT in other genetic dyslipidemias disclosing elevated blood cholesterol levels that might easily lead to a suspicion of FH have not been evaluated. The aim of this study was to assess the usefulness of AT sonography to distinguish genetically ascertained FH from clinical FH without a molecular diagnosis and other genetic dyslipidemias in comparison with normolipidemic subjects.…”

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confidence: 99%

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The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

Junyent

Gilabert

Zambón

et al. 2005

ATVB

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Objective-Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH), may be clinically undetectable. We assessed the usefulness of AT sonography in the diagnosis of FH. Methods and Results-Sonographic AT characteristics were evaluated in 127 subjects with FH (81 genetically ascertained), 84 familial combined hyperlipidemia, 79 polygenic hypercholesterolemia, and 88 normolipidemic controls. Abnormal echostructure (sonographic xanthoma) was noted only in FH. AT thickness was higher (PϽ0.001) in FH men and women compared with all of the other groups and, in FH mutation carriers but not in others, correlated positively with low-density lipoprotein cholesterol (rϭ0.345; PϽ0.001) and negatively with high-density lipoprotein cholesterol (rϭϪ0.265, Pϭ0.015). Thickness thresholds for the diagnosis of FH with specificity Ͼ80%, as were derived from receiver operating curves, were 5.3 and 5.7 mm in men Ͻ and Ͼ45 years, and 4.8 and 4.9 mm in women Ͻ and Ͼ50 years, respectively. In FH mutation carriers, sonographic findings increased the clinical diagnosis of xanthomas from 35 (43%) to 55 (68%

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

Junyent

Gilabert

Zambón

et al. 2005

ATVB

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A novel ultrasonographic synovitis scoring system suitable for analyzing finger joint inflammation in rheumatoid arthritis

Scheel¹,

Hermann²,

Kahler³

et al. 2005

Arthritis & Rheumatism

236

187

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Objective. To develop an ultrasonographic (US) synovitis scoring system suitable for evaluation of finger joint inflammation in patients with active rheumatoid arthritis (RA) and to compare semiquantitative US scoring with quantitative US measurements.Methods. US was performed at the palmar and dorsal sides of the second through fifth metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints in 10 healthy subjects and in the clinically more affected hand in 46 RA patients. Ten patients additionally underwent magnetic resonance imaging (MRI). Synovitis was measured, standardized, and scored according to a semiquantitative method. The 2 methods (semiquantitative US scoring, quantitative US) were compared and statistical cutoffs were identified using receiver operating characteristic (ROC) curve analysis. MRI results were compared with semiquantitative US scoring and quantitative US results. The optimal US scoring method from 6 joint combinations was identified (ROC curve analysis).Results. Synovitis was most frequently detected in the palmar proximal area (86% of affected joints). We found no significant differences between individual PIP joints or between individual MCP joints, indicating that all fingers within each of these joint groups should be treated equally for statistical calculations, although each joint group as a whole should be treated separately. The optimal cutoff point to distinguish between "health" and "pathology" was 0.6 mm both for MCP joints (sensitivity 94%, specificity 89%) and for PIP joints (sensitivity 90%, specificity 88%). There was no significant difference between semiquantitative US scores and quantitative US measurements. The best results for joint combinations were achieved using the "sum of 4 fingers" (second through fifth MCP and PIP joints) and "sum of 3 fingers" (second through fourth MCP and PIP joints) methods. Comparison of MRI results with semiquantitative US scores revealed high concordance.Conclusion. US evaluation of finger joint synovitis can be considerably simplified by focusing on the palmar side and by applying semiquantitative grading instead of quantitative measurements. For evaluation of treatment efficacy based on synovitis in RA patients, we recommend using the "sum of 3 fingers" method in longitudinal trials.

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Monogenic Hypercholesterolemias

Civeira¹,

Pocovı́²

2015

Dyslipidemias

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The use of Achilles tendon ultrasonography for the diagnosis of familial hypercholesterolemia

Cited by 68 publications

References 18 publications

The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

A novel ultrasonographic synovitis scoring system suitable for analyzing finger joint inflammation in rheumatoid arthritis

Monogenic Hypercholesterolemias

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