Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux

Fumihiko Matsuura, Ken Ichi Hirano, Masahiro Koseki, Tohru Ohama, Akifumi Matsuyama, Ken Ichi Tsujii, Ryutaro Komuro, Makoto Nishida, Naohiko Sakai, Hisatoyo Hiraoka, Tadashi Nakamura, Shizuya Yamashita

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We experienced a family with novel massive tendon xanthomatosis which can be excluded from known disease causing xanthomatosis. The proband was a 58-year-old man who had necrosis in his massive Achilles tendon xanthoma. Three of 5 brothers including him and his nephew had the same clinical phenotype. The systemic tendon xanthomatosis became apparent around 30 years of their age. The proband and his elder brother had mild elevations of serum total cholesterol level (251 and 228 mg/dL, respectively). The low-density lipoprotein receptor activity of the proband's lymphocytes was normal. Neither plant sterol nor cholestanol level was increased in the proband's plasma. Magnetic resonance image of the proband's Achilles tendon demonstrated a massive expansion of the soft tissue with salami sausage-like appearance in his heels (50 mm in thickness). The physiological function of macrophages (MΦ) from the patients was investigated to clarify the mechanism for the formation of xanthomatosis. There was no significant difference in the uptake of oxidized low-density lipoprotein between the proband's MΦ and the control. High-density lipoprotein 3-mediated cholesterol efflux from the patients' MΦ (n = 2) was significantly reduced compared with the controls (n = 3), whereas there was no difference in apolipoprotein (apo) A-I-mediated cholesterol efflux between the patients' MΦ and the controls. Furthermore, there was no reduction of the messenger RNA levels of ATP-binding cassette transporter 1 (ABCA1), which is involved in apo A-I-mediated cholesterol efflux, in the proband's MΦ compared with the control. The present study demonstrates that the mechanism for the formation of novel familial massive tendon xanthomatosis may be, at least in part, associated with decreased high-density lipoprotein 3, but not free apo A-I-mediated cholesterol efflux from MΦ in vivo.

Original languageEnglish
Pages (from-to)1095-1101
Number of pages7
JournalMetabolism: Clinical and Experimental
Volume54
Issue number8
DOIs
Publication statusPublished - 01-08-2005

Fingerprint

Xanthomatosis
Tendons
HDL Cholesterol
Cholesterol
Apolipoprotein A-I
HDL3 Lipoprotein
Achilles Tendon
Siblings
ATP Binding Cassette Transporter 1
Cholestanol
Tissue Expansion
Phytosterols
Heel
LDL Receptors
Necrosis
Magnetic Resonance Spectroscopy
Macrophages
Lymphocytes
Phenotype
Messenger RNA

All Science Journal Classification (ASJC) codes

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Matsuura, Fumihiko ; Hirano, Ken Ichi ; Koseki, Masahiro ; Ohama, Tohru ; Matsuyama, Akifumi ; Tsujii, Ken Ichi ; Komuro, Ryutaro ; Nishida, Makoto ; Sakai, Naohiko ; Hiraoka, Hisatoyo ; Nakamura, Tadashi ; Yamashita, Shizuya. / Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux. In: Metabolism: Clinical and Experimental. 2005 ; Vol. 54, No. 8. pp. 1095-1101.
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abstract = "We experienced a family with novel massive tendon xanthomatosis which can be excluded from known disease causing xanthomatosis. The proband was a 58-year-old man who had necrosis in his massive Achilles tendon xanthoma. Three of 5 brothers including him and his nephew had the same clinical phenotype. The systemic tendon xanthomatosis became apparent around 30 years of their age. The proband and his elder brother had mild elevations of serum total cholesterol level (251 and 228 mg/dL, respectively). The low-density lipoprotein receptor activity of the proband's lymphocytes was normal. Neither plant sterol nor cholestanol level was increased in the proband's plasma. Magnetic resonance image of the proband's Achilles tendon demonstrated a massive expansion of the soft tissue with salami sausage-like appearance in his heels (50 mm in thickness). The physiological function of macrophages (MΦ) from the patients was investigated to clarify the mechanism for the formation of xanthomatosis. There was no significant difference in the uptake of oxidized low-density lipoprotein between the proband's MΦ and the control. High-density lipoprotein 3-mediated cholesterol efflux from the patients' MΦ (n = 2) was significantly reduced compared with the controls (n = 3), whereas there was no difference in apolipoprotein (apo) A-I-mediated cholesterol efflux between the patients' MΦ and the controls. Furthermore, there was no reduction of the messenger RNA levels of ATP-binding cassette transporter 1 (ABCA1), which is involved in apo A-I-mediated cholesterol efflux, in the proband's MΦ compared with the control. The present study demonstrates that the mechanism for the formation of novel familial massive tendon xanthomatosis may be, at least in part, associated with decreased high-density lipoprotein 3, but not free apo A-I-mediated cholesterol efflux from MΦ in vivo.",
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Matsuura, F, Hirano, KI, Koseki, M, Ohama, T, Matsuyama, A, Tsujii, KI, Komuro, R, Nishida, M, Sakai, N, Hiraoka, H, Nakamura, T & Yamashita, S 2005, 'Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux', Metabolism: Clinical and Experimental, vol. 54, no. 8, pp. 1095-1101. https://doi.org/10.1016/j.metabol.2005.03.014

Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux. / Matsuura, Fumihiko; Hirano, Ken Ichi; Koseki, Masahiro; Ohama, Tohru; Matsuyama, Akifumi; Tsujii, Ken Ichi; Komuro, Ryutaro; Nishida, Makoto; Sakai, Naohiko; Hiraoka, Hisatoyo; Nakamura, Tadashi; Yamashita, Shizuya.

In: Metabolism: Clinical and Experimental, Vol. 54, No. 8, 01.08.2005, p. 1095-1101.

Research output: Contribution to journalArticle

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T1 - Familial massive tendon xanthomatosis with decreased high-density lipoprotein-mediated cholesterol efflux

AU - Matsuura, Fumihiko

AU - Hirano, Ken Ichi

AU - Koseki, Masahiro

AU - Ohama, Tohru

AU - Matsuyama, Akifumi

AU - Tsujii, Ken Ichi

AU - Komuro, Ryutaro

AU - Nishida, Makoto

AU - Sakai, Naohiko

AU - Hiraoka, Hisatoyo

AU - Nakamura, Tadashi

AU - Yamashita, Shizuya

PY - 2005/8/1

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