Abetalipoproteinemia

Abetalipoproteinase is a rare genetic disease that is characterized by a disorder in the metabolism of lipids and proteins in the blood. It is also known as Bessen-Kornweig syndrome due to the fact that its symptoms, such as acanthosis (an overgrowth of the stratum corneum of the skin), occur in many

Abetalipoproteinamia, otherwise called Bessen-Kornzweig syndrome or acanthocyosis, is caused by a mutation in the ABELAR gene, encoding apoliprotein I, which accumulates in abetalipoproteinamia. Mutations in the gene lead to an increase in the amount of human apoprotein, which is also present in the blood of a healthy person. For this reason, mutants are mistakenly classified as a group of common hereditary diseases - sickle cell. This disorder occurs in approximately 1 in 30 million people.

This syndrome is diagnosed in people of different ages. For the vast majority, this is observed during periods of 17-18 years. Boys and girls are almost equal in this indicator. It occurs somewhat more often in boys than in girls. This syndrome was first described at the beginning of the twentieth century by a Czech physician named Besen. Later, 7 years after the discovery of the syndrome, the Czech doctor Kornzweg studied it and described it in detail. With this, he brought ABELA-proteinamines into a separate category at the level of a large lesion of sclerosing hyalinosis. Otherwise, both of these ailments were combined. Autoimmune diseases are one of several groups of disorders in this category. The second group is hereditary disorders that appear in childhood or adulthood. Among the rest, the most famous are Hurler syndrome and Gizycki syndrome, observed in children. With ABELA proteinamine, thickening of the skin sheets occurs. At the same time, in some areas they become many times thicker than in others. As for the patella, it can fall out on its own. First, the ulnar angles of the abdomen fall out, and then the neck. Often, next to the skin there are saphenous veins, in which urine and blood accumulate, remaining in addition to them in the deeper layers of soft tissue. The bottom of the thoracic cavity is cloudy in color and has pinpoint pigment inclusions. The sternal digital bones are often hypertrophied. The lower third of the pulmonary lobe is noticeably compacted. The epigastric fold may descend, but does not disappear completely.