Current Diagnosis and Management of Abetalipoproteinemia

J Atheroscler Thromb. 2021 May 16. doi: 10.5551/jat.RV17056. Online ahead of print.ABSTRACTAbetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical...

Source: Journal of Atherosclerosis and Thrombosis - May 17, 2021 Category: Cardiology Authors: Manabu Takahashi Hiroaki Okazaki Ken Ohashi Masatsune Ogura Shun Ishibashi Sachiko Okazaki Satoshi Hirayama Mika Hori Kota Matsuki Shinji Yokoyama Mariko Harada-Shiba Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Dis Source Type: research