Achilles tendon ultrasonography in familial hypercholesterolemia: A sub‐study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN)

Baragetti, Andrea; Casula, Manuela; Scarinzi, P.; Ristè, Federica; Scicali, Roberto; Biolo, Marta; Lugari, Simonetta; Dall'Agata, M.; Gazzotti, Marta; Olmastroni, Elena; Alieva, A.; Nascimbeni, Fabio

doi:10.1111/joim.13421

Cited by 3 publications

(3 citation statements)

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“…Earlier studies have shown that the diagnosis of xanthoma can help better identify familial hypercholesterolaemia patients and has some prognostic information: at any level of LDL-C, the prognosis for patients with familial hypercholesterolaemia and xanthoma is much worse than for those with familial hypercholesterolaemia but without xanthoma [7,28]. According to a recent study [60], the prevalence of ATX only detected by ultrasound was higher in genetically positive than negative familial hypercholesterolaemia patients. The ultrasound examination also showed a higher concordance with the genetic diagnosis than the clinical examination.…”

Section: Discussionmentioning

confidence: 99%

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia – a cross-sectional analysis

De Montmollin,

Bétrisey,

Feller

et al. 2023

Swiss Med Wkly

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BACKGROUND AND AIMS: People with familial hypercholesterolaemia are 13 times more likely to develop cardiovascular disease than the general population. However, familial hypercholesterolaemia remains largely underdiagnosed. Tendon xanthoma is a specific clinical feature of familial hypercholesterolaemia and its presence alone implies a probable diagnosis of familial hypercholesterolaemia according to the Dutch Lipid Clinic Network Score (DLCNS). The aim of the study was to determine whether ultrasound detects more Achilles tendon xanthomas (ATX) than clinical examination. METHODS: We recruited 100 consecutive patients with LDL-C ≥4 mmol/l. Achilles tendons were evaluated through clinical examination by trained physicians and sonographic examination by another physician blind to the results of clinical examination. Blind second readings of ultrasound images were performed by an expert in musculoskeletal ultrasound. We compared the proportion of patients with ATX detected by either clinical examination or ultrasound and the proportion of patients with a probable/definite familial hypercholesterolaemia diagnosis on the DLCNS before and after ultrasound. RESULTS: Mean (SD) age was 47 (12) years; mean highest LDL-C was 6.57 mmol/l (2.2). ATX were detected in 23% of patients by clinical examination and in 60% by ultrasound. In consequence, 43% had a probable/definite diagnosis of familial hypercholesterolaemia on the DLCNS using clinical examination compared with 72% when ultrasound was used. CONCLUSION: Compared to clinical examination, ultrasound examination of the Achilles tendon substantially improves the detection of ATX and may help to better identify patients with familial hypercholesterolaemia who are at high risk for premature cardiovascular disease.

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Section: Discussionmentioning

confidence: 99%

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia – a cross-sectional analysis

De Montmollin,

Bétrisey,

Feller

et al. 2023

Swiss Med Wkly

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“…The detection of a tendinous xanthoma may be a diagnostic sign of familial hypercholesterolaemia and require further genetic testing. 30 While the absence of tendinous xanthomas with increased ATT/BSA may be considered as an indication for screening for asymptomatic PAD. Secondly, the measurement of ATT/BSA can be used simultaneously with the assessment of ankle-brachial index (ABI) as part of screening for PAD.…”

Section: Discussionmentioning

confidence: 99%

Achilles tendon thickness normalized to body surface area as a marker of asymptomatic peripheral arterial disease

et al. 2022

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Objectives The normalisation of Achilles tendon thickness (ATT) to anthropometric parameters may increase the diagnostic efficiency of the assessment of ATT. The aim of this study was to compare the diagnostic value of AT dimensions depending on their normalization to body surface area (BSA) in patients with asymptomatic peripheral arterial disease (PAD). Methods All patients underwent duplex scanning of the carotid arteries and the lower limb arteries. Asymptomatic PAD was defined as the presence of ≥50% stenosis in the carotid and/or lower limb arteries. ATT was measured using a longitudinal scan, width (ATW) and cross-sectional area (AT CSA), which was determined during a cross-sectional scan. Results The study included 369 patients, among whom asymptomatic PAD was detected in 18 (4.88%) patients. Only the ATT demonstrated diagnostic value for asymptomatic PAD. After normalizing the size of the AT to the BSA, the diagnostic performance of ATT, ATW and AT CSA became statistically significant. Among the studied parameters, only an increase in ATT/BSA >0.29 cm/m2 was associated with a significant increase in the odds ratio (OR) of asymptomatic PAD by 4.11 times (95% CI 1.08–15.7; p = .038) after adjustments. Conclusion An increase in ATT/BSA >0.29 cm/m2 predicted the presence of asymptomatic PAD with a sensitivity of 61.1% and a specificity of 77.9%. ATT/BSA values of less than 0.29 cm/m2 made it possible to exclude asymptomatic PAD with a probability of 97.5%. An increase in ATT/BSA >0.29 cm/m2 was associated with a 4.11-fold increase in the OR of asymptomatic PAD (95% CI 1.08–15.7).

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“…The pathogenic genes were detected by the second-generation sequencing technique. In addition, their Achilles tendon thickness (ATT), a sensitive index in diagnosing FH [ 40 ], was measured before starting the genetic test. The eligibility criteria were age between 12 and 75 years old, bodyweight ≥40 kg, fasting triglyceride (TG) ≤ 4.5 mmol/L, and fasting LDL-C ≥ 3.4 mmol/L after at least four weeks of stable high-intensity statins plus ezetimibe therapies.…”

Section: Methodsmentioning

confidence: 99%

A PCSK9 inhibitor induces a transient decrease in the neutrophil-lymphocyte ratio and monocyte-lymphocyte ratio in homozygous familial hypercholesterolemia patients

Hao

et al. 2022

Atherosclerosis Plus

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Achilles tendon ultrasonography in familial hypercholesterolemia: A sub‐study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN)

Cited by 3 publications

References 10 publications

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia – a cross-sectional analysis

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia – a cross-sectional analysis

Achilles tendon thickness normalized to body surface area as a marker of asymptomatic peripheral arterial disease

A PCSK9 inhibitor induces a transient decrease in the neutrophil-lymphocyte ratio and monocyte-lymphocyte ratio in homozygous familial hypercholesterolemia patients

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