Tangier’s disease can be identified in the Israeli population

Introduction

Tangier disease (TD) is an extremely rare genetic disease characterized by severe plasma deficiency or absence of HDL and by accumulation of cholesteryl esters in many tissues throughout the body. Since its discovery it has been diagnosed in about 100 patients worldwide amongst only one case has been diagnosed in Israel. We describe the only case diagnosed of TD in Israel so far warranting the importance of identifying such patients for treatment and follow-up.

Material and method

A case report of a 77 year old lady from Ashkenazi Jewish ancestry who was diagnosed with TD since 1997 based on clinical scenario of peripheral neuropathy and very low HDL, LDL and cholesterol. The patient was followed up and exom sequencing only recently done to the patient and found to be homozygotic for the 917573080 c>A splice site mutation in the ABCA1 gene. mRNA of the patient demonstrated skipping of the exon downstream of the mutation.

Interestingly, the patient had a dense mobile mass measuring 11*9 mm on the mitral valve by echocardiography which may be due to cholesterol accumulation on the valve. This resulted in recurrent stroke events.

Results and Discussion

The suspicion of Tangier disease was based on clinical scenario of unexplained neuropathy and typical lipid profile, the diagnosis was confirmed by genetic study, echocardiography raised the suspicion of a mass on the mitral valve linked to this disease.

Conclusion

Tangier’s disease is associated with early onset of atherosclerosis, peripheral neuropathy and valvulopathy. Awareness of the existence of the disease in the Israeli population should warrant more accurate diagnosis for the patient and early intervention to prevent coronary artery disease.