Pathogenesis, detection and treatment of Achilles tendon xanthomas

Abstract

Tendon xanthomatosis often accompanies familial hypercholesterolaemia, but it can also occur in other pathologic states. Achilles tendons are the most common sites of tendon xanthomas. Low-density lipoprotein (LDL) derived from the circulation accumulates into tendons. The next steps leading to the formation of Achilles tendon xanthomas (ATX) are the transformation of LDL into oxidized LDL (oxLDL) and the active uptake of oxLDL by macrophages within the tendons. Although physical examination may reveal Achilles tendon xanthomas (ATX), there are several imaging methods for their detection. It is worth mentioning that ultrasonography is the method of choice in everyday clinical practice. Although several treatments for Achilles tendon xanthomas (ATX) have been proposed (LDL apheresis, statins, etc.), they target mostly in the treatment of the basic metabolic disorder of lipid metabolism, which is the main cause of these lesions. In this review we describe the formation, detection, differential diagnosis and treatment of ATX as well as the relationship between tendon xanthomas and atheroma.

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

“…As reviewed recently, 27 other imaging techniques may be used to accurately measure AT size, although none can depict xanthomas. Because sonography is a safe, low-cost, rapid, and reliable procedure, its use for the assessment of both AT size and echostructure represents a valid and practical alternative for uncovering both enlarged tendons and xanthomas that noticeably increase the yield of physical examination.…”

Xanthomas: Clinical and pathophysiological relations

“…Tendinous xanthomas can cause pain, especially if localised in the Achilles tendon (achillodynia). Occasionally, they can elicit a spontaneous rupture of the tendon 14 . Eruptive xanthomas call attention to severe hypertriglyceridemia, especially in patients with newly diagnosed or decompensated diabetes mellitus; an elevated risk of acute pancreatitis occurs within the framework of the chylo micronemic syndrome 35,36,41 .…”

“…In patients with familial hypercholesterolemia, the size of Achilles tendon xanthomas correlated positively with the titre of antibodies against oxidised LDL, negatively with the plasma concentration of HDL 3 (ref. 14 ). The incidence of tendon xanthomas in patients with familial hypercholesterolemia was significantly associated with age, sex, plasma concentration of LDL cholesterol and arterial hypertension 15 .…”

Achilles Tendon Ultrasonography for Diagnosis of Familial Hypercholesterolemia Among Japanese Subjects

“…6 Therefore, in the present study we focused on US, a noninvasive and simple procedure that allows not only thickness and width to be assessed but also area and F amilial hypercholesterolemia (FH) is an autosomal dominantly inherited disease characterized by markedly increased serum low-density lipoproteincholesterol (LDL-C) levels, formation of xanthomas, including those causing thickening of the Achilles tendon (AT), and early-onset coronary artery disease (CAD), 1 FH is reportedly common in patients hospitalized with premature acute coronary syndrome, 2 suggesting the importance of early diagnosis and early treatment of this disease. However, the diagnosis rate of FH in Japan is extremely low despite the high frequency of heterozygous FH (1 of 200-500).…”