In this case report, we present a patient with a giant xanthoma along the entirety of the right Achilles

tendon. We discuss the pathogenesis, clinical manifestations, complications and unique surgical

treatment of this rare condition. Familial hypercholesterolemia is a genetic disease that provides the

best evidence for the causal role of low-density lipoprotein cholesterol in human atherosclerosis. The

disease was first described by Muller in 1939 and is characterized by high cholesterol levels from

birth, and the subsequent development of tendon and cutaneous xanthomas and premature

atherosclerosis. Achilles tendon xanthomas are not palpable in up to 20% of those with heterozygous

familial hyperlipoproteinemia.

Pathologic evaluation and analysis of the tendon specimen revealed giant tendon xanthomas caused

by familial hypercholesterolemia. Within 12 weeks, patient transitioned from a posterior splint to a

CAM-walker with limited weight bearing, followed by normal weight bearing to tolerance in a shoe.

The patient has been walking normally for 1 month and is satisfied with outcome of the surgery. He

now wants to schedule the same procedure on the contralateral limb where he has similar findings.

In this case report, we described a 44-year-old male patient with xanthomatous findings within the

entire Achilles tendon. His diagnosis was made following traumatic rupture of the right Achilles

tendon. The initial repair included debridement of the damaged tendon with specimen sent for

pathologic analysis. His first surgical repair attempt was an end-to-end anastomosis with FHL

augmentation. A standard postoperative course of non-weight bearing in a posterior splint for 6 weeks

followed by partial weight bearing in a CAM-walker boot was prescribed. His recovery was

unremarkable as to strength and range of motion, except that the patient continued to have pain along

the entirety of the Achilles tendon long after normal healing should have taken place. The patient

underwent months of physical therapy with unremitting pain. MRI imaging revealed the entire right

Achilles tendon had been replaced with giant xanthoma. The patient was scheduled for surgical

resection and replacement of the defective tendon with a myofascial turn-down technique.

1. G. T. Lin, “Surgical excision of the tendon xanthoma in familial hypercholesterolemia—a case report,” The Kaohsiung Journal of

Medical Sciences, vol. 15, no. 7, pp. 441–446, 1999.

2. H. S. Kruth, “Lipid deposition in human tendon xanthoma,” American Journal of Pathology, vol. 121, no. 2, pp. 311–315, 1985.

3. S. F. Gunther, A. G. Gunther, J. M. Hoeg, and H. S. Kruth, “Multiple flexor tendon xanthomas and contractures in the hands of a

child with familial hypercholesterolemia,” Journal of Hand Surgery, vol. 11, no. 4, pp. 588–593, 1986.

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Xanthomas along the Achilles tendon are not a commonly reported finding and are

poorly recognized clinically. Awareness of this condition will allow clinicians and

surgeons to treat the patient more effectively. In this case study we also demonstrate that

surgical myofascial turndown for tendon reconstruction is a useful technique where a

large tendon defects exist whatever the cause.

Xanthomas along the Achilles tendon are not a commonly reported finding and are not well

recognized clinically. Most cases are discovered with advanced imaging such as MRI or contrast

enhanced CT and during surgical repair with specimen sent for pathologic analysis. Awareness of this

condition and treatment strategy will allow clinicians and surgeons to treat affected patients more

appropriately for faster recovery and potentially effect greater functional outcomes..

Introduction

Purpose

Materials and Methods

Results

Conclusions

Bibliography

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Michael R Brewer DPM and Eugene De La Cruz DPM – Oasis Foot and Ankle, Phoenix AZ

Robert G. Frykberg, DPM, MPH – Residency Director/Chief, Podiatry Section Phoenix VA Medical Center

M. Shaun Lund, DPM, PGY-3 – Resident, Phoenix VA Medical Center.

Jaminelli Banks DPM - Research Fellow, Phoenix VA Medical Center

Author Affiliations

M. Shaun Lund, DPM PGY-3

Carl T. Hayden Phoenix VA Medical Center

650 E. Indian School Rd, Phoenix AZ 85012

mshaunlund@yahoo.com

Contact Information

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Surgical Treatment of a Giant Achilles Tendon Xanthoma in a Patient with Familial HypercholesterolemiaMichael R. Brewer DPM, Eugene De La Cruz DPM, Robert G. Frykberg DPM, Jaminelli L. Banks DPM, M. Shaun Lund DPM, Carl T. Hayden VA Medical Center, Phoenix AZ, USA