Tangier disease (also called Familial alpha-lipoprotein lack:535) or hypoalphalipoproteinemia iis an uncommon inherited disorder characterized by a severe decline in the sum of high-density lipoprotein (HDL), often known as "great cholesterol", in the blood.



Signs/symptoms of Tangier Disease

Individuals who are homozygotes for Tangier's disease create different cholesterol ester depositions. These are particularly visible in the tonsils since they might seem yellow/orange. The cholesterol esters might also be found in lymph nodes, bone marrow, the liver, and spleen.

On account of this cholesterol ester depositions, the tonsils might be enlarged. Hepatosplenomegaly (enlarged liver and spleen) is most common.

Neuropathy and cardiovascular disease would be the most devastating improvements brought on by Tangier's disease.

Mutations in chromosome 9q31 result in a faulty ABCA1 transporter. All these mutations prevent the ABCA1 protein from efficiently transporting cholesterol and phospholipids from cells for pickup by ApoA1 from the bloodstream. This inability to transfer cholesterol from cells contributes to a lack of high-density lipoproteins from blood flow, which can be a risk factor for coronary artery disease. Moreover, the buildup of cholesterol in cells may be poisonous, inducing cell death or diminished functioning. These combined factors cause the symptoms and signs of Tangier disease.

This condition is inherited in an autosomal recessive pattern, which means that for the phenotype to show, 2 copies of this gene must be present in the genotype. ] Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

Treatment of Tangier Disease

There are medications which could boost serum HDL like niacin or gemfibrozil. When these medications are useful for individuals using hyperlipidemia, Tangier's disease patients don't gain from such pharmaceutical interventions.

Consequently, the only current treatment modality for Tangier's disease is diet modification. A low-fat diet may lower a few of the symptoms, particularly those between neuropathies.


Source: https://aderonkebamidele.com/tangier-disease-signs-symptoms-treatment/