Tangier disease in family with the phenotype of familial hypercholesterolemia

Czech version

Authors: Robin Urbánek ¹; Lukáš Tichý ²; Tomáš Freiberger ³
Authors‘ workplace: Lipidová a obezitologická ambulance, Zlín ¹; Interní hematoonkologická klinika, Centrum molekulární biologie a genové terapie, FN Brno ²; Centrum kardiovaskulární a transplantační chirurgie. Genetická laboratoř, FN u sv. Anny Brno ³
Published in: Vnitř Lék 2020; 66(7): 443-446
Category: Case Report

Overview

Within the project MedPed (Make Early Diagnosis to Prevent Deaths) we have examined patient with familial hypercholesterolemia in our lipid ambulance. During the following investigation of the patient‘s family we found out that her sister has on the contrary very low levels of total and LDL-cholesterol. Concentration of HDL-cholesterol was extreamly low (almost immeasurable). Differential diagnosis uttered a suspicion of rare form of familial hypoalfalipoproteinemia so-called Tangier disease. This suspicion was then confirmed by molecular genetic examination. Tangier disease is a rare lipoprotein metabolism disorder characterized biochemically by almost complete absence of plasmatic HDL- cholesterol, extremely low level of apolipoprotein A-I and accumulation of cholesterol esters in macrophages. The first case was recorded on the Tangier island in 1961. In our research we describe the first case of a patient with homozygous form of Tangier disease in the history of the Czech Republic.

Keywords:

familial hypercholesterolemia – low ApoA -I – low HDL -cholesterol – primary hypoalfalipoproteinemia – project MEDPED – Tangier disease

Sources

1. Fredrickson DS, Altrocchi PH, Avioli L, et al. Tangier Disease- combined clinical staff conference at the National Institute of Health. Ann Intern Med 1961; 55: 1016.

2. Puntoni M, Sbrana F, Bigazzi F, Sampietro T. Tangier disease: epidemiology, pathophysiology and management. Am J Cardiovasc Drugs 2012 (5): 303–313.

3. Luchci T, Calandra S, Rabacchi C, Conti G, Ardolino G, Assolari L, Arosio B, Vergani C. A man with low cholesterol and weakness of the lower limbs: Intern Emerg. Med (2014) 9: 449–453.

4. Tall AR, Breslow JL, Rubin EM. Genetic disorders affecting plasma high- density lipoproteins. In: Scriver CR, Beaudot AL, Valle D, Sly WS (eds) The metabolic and molecular bases of inherited disease, 8th edition New York, Mc Graw -Hill, 2001, pp 2915–2936.

5. Santos RD, Asztalos BF, Martinez LR, et al. Clinical presentation, laboratory values, and coronary heart disease risk in marked high- density lipoprotein- deficiency states. J Clin Lipidol. 2008; 2: 237–247.

6. Schaefer EJ, Santos RD, Asztalos BF. Marked HDL deficiency and premature coronary heart disease. Curr Opin Lipidol. 2010; 21: 289–297.

7. Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF. Diagnosis and tretment of high density lipoprotein deficiency. Prog Cardiovasc, DiS. 2016 Sep- Oct; 59(2): 97–106.

8. Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S. Novel mutations of ABCA1 transporter in patients with Tangier disease and familial deficiency. Mol Genet Metab. 2012 Nov; 107(3): 534–541.

9. Clee SM, Kastelein J, van Dam M, Marcil M, Roomp K, Zwarts KY, Collins JA, Ceska R, Stulc T,Roelants R, Tamasawa N, Frohlich J, Hayden MR, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes, J.Clin Invest 106 (2000) 1263–1270.

10. Hooper AJ, McCormick SPA, Hegele RA, Burnett JR. Clinical utility gene card for: Tangier disease.Europeran Journal of Human Genetics (2017)25.

11. Muratsu J, Koseki M, Masuda D,Yasuga Y, Tomoyama S, Keiji S,Ataka K, Yagi Y, Nakagawa A, Hamada H, Fujita S, Hattori H, Ohama T, Nishida M, Hiraoka H, Matsuzawa Y, Yamashita S Accelerated atherogenicity in Tangier disease. A case accompanied by extensive atherosclerotic lesions, Leriche syndrom and bleeding tendency, and Review of the literature. J Atheroscler Thromb 2018 Oct 1; 25(10): 1076–1085.

12. Stocchi L, Giardina E, Varriale L, Sechi A, Vagnini A, Parri G, Valentini M, Capalbo M. Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. Molec.Gene. and Metab 123 (2018) 43–49.

13. Brooks- Wilson A, Marcil MClee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne- Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frochlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Mutations in ABCA in Tangier disease and familial high -density lipoprotein deficiency, Nat Genet 22 (1999) 336–345).

14. Hobbs HH, Rader DJ. ABCA1: connecting yellow tonsils, neuropathy, and very low HDL. J Clin Invest.104 (1999) 1015–1017.

15. Petrini V, Rizzuto N, Vergani C, et al (1985) Neuropthy in Tangier disease: a clinicopathologic study and a review of the literature. Acta Neurol Scand 72(5): 495–505.

16. Rader DJ, deGoma EM. Aproach to the patient with extremely low HDL -cholesterol, J Clin Endocrinol Metab, (2012),97 (10): 3399–3407.

17. Negi SI, Brautbar A, Virani SS, Anand A, Polisecki E, Asztalos BF et al. A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. J Clin Lipidol 7 (2012) 82–87.

18. Oram JF, Vaughan AM. ATP- Binding cassette cholesterol transporters and cardiovascular disease. Circ Res. 2006; 99(10): 1031–1043.

19. Hegele RA, Borén J, Ginsberg HN, Arca M, Averna M, Binder CHJ, Calabresi L, Chapman MJ, Cuche Ml, Eckardstein A, Frikke -Schmidt R, Gaudet D, Hovingh GK, Kronenberg F, Lütjohann D, Parhofer HG, Raal FJ, Ray KK, Remaley AT, Stock JK, S Stroes ES, Tokgözoğlu L, Catapano AL. Rare dyslipidemias, from phenotype to genotype to management: a European Atherosclerosis Society task force concensus statement. Lancet Diabetes Endocrinol 2019 S2213–8587(19)