To the Editor,

We read with great interest the report written by Dr. Thakare et al., which indicated that the management of underlying lipid disorders, especially familial hypercholesterolemia (FH), should be considered when orthopedic physicians encounter patients with Achilles tendon xanthomatosis ^[1]. The learning points of their report are valuable for identifying patients with FH since FH tends to be underdiagnosed while a treatment regimen is being established ^[2]. Furthermore, we would like to add some instructive comments to their learning points.

FH is an autosomal dominant inherited disorder, which prevalently affects approximately 1 in 250–500 people, and the affected patients present with elevated low-density lipoprotein levels in the blood, which is associated with a high risk of coronary artery disease ^[2]. Thus, the early management of FH is crucial ^[2]. Although Achilles tendon xanthomatosis is an essential physical sign for FH ^[1], this sign is generally asymptomatic. In our experience, patients with FH visit orthopedic clinics with complaints of suspected disorders related to their ankles or discomfort (e.g., wearing the shoes) due to Achilles tendon xanthomatosis. There are many non-specific opportunities to identify patients with FH in daily practice ^[3], and orthopedic physicians are therefore encouraged to participate in such opportunities. Establishing systems to easily consult lipid specialists is also needed after identifying such patients ^[3].

Of note, based on the dominant inheritance of FH, the general practice should not be just about the patient whom the physician sees. Instead, physicians should also examine as many family members of the patient as possible (i.e., children, siblings, and parents) to identify any other potential patients with this disease. Physicians are thus able to ask a family history of FH and premature development of coronary artery disease ^[2], even though the family history may be ambiguous in some cases. In addition, the physicians could suggest family cascade screening for FH ^[4,5], while ethical concerns need to be carefully adhered to.

From the viewpoint of earlier management, screening for pediatric FH has recently made substantial advances ^[4,5]. The treatment is not too late for any patient in an era when many adult patients can live longer ^[6]. At least, orthopedic physicians should keep in mind the importance of taking a family history of their patients and explaining to such patients the need for the timely management of FH, including family cascade screening. Again, the considerations regarding the family members should be emphasized when encountering patients with FH.