Fabry disease, also known as angiokeratoma corpris diffusum, is a disorder of lipid metabolism caused by an a-galactosidase-A deficiency, which leads to accumulation of glycolipid products in various muscle tissues and cells in the nervous system. Individuals inherit Fabry disease as an X-linked recessive trait. It is caused by the gene located on the long arm of the X chromosome (Xq21.33-Xq22).
An X-linked, recessive metabolic disease in which there is a galactosidase deficiency, which leads to accumulation of glycosphingolipids throughout the body. Clinically, by age 10, there is discomfort of the hands and feet with paresthesia or burning pain. There may be painful abdominal crises resembling other causes of acute abdominal pain. As these patients age, glycolipid deposition in the kidneys, heart, and brain may produce serious organ dysfunction.
This is an uncommon genetic condition resulting from a lack of alpha-galactosidase A, an essential enzyme responsible for metabolizing specific lipids (fats) in the body. Due to the enzyme deficiency, lipid molecules build up in various tissues, with a particular tendency to accumulate in the nerves, heart, and kidneys.
Fabry’s disease is a hereditary condition transmitted through the X-linked recessive pattern, which means it tends to impact males more frequently than females.
In many cases, the initial symptoms of this condition emerge during childhood and include pain and discomfort in the hands and feet, stemming from peripheral nerve damage. As the disease advances, there is a possibility of impaired heart and kidney function. Female carriers of the condition typically exhibit only mild symptoms.
Carbamazepine is utilized to treat pain in the hands and feet. Individuals affected by this condition typically live into adulthood; however, they face potential risks of strokes, heart attacks, and kidney damage.
A cosmetic procedure designed to reduce wrinkles and lift sagging skin on the face, resulting in a more youthful appearance. This effect is achieved by making incisions near or along the hairline on both sides of the face. The skin is carefully lifted off the face, and any excess skin is removed. Finally, the edges of the skin are stitched back together within the hairline.
Bruising of the face is a typical occurrence after the procedure, and some discomfort may be experienced. Stitches are typically taken out three to five days after the surgery. In the majority of cases, the scars gradually fade within approximately a year, as they are concealed by natural crease lines or hidden within the hairline. The results of a face-lift generally last for about five years.
In some instances, satisfactory healing may not occur due to the accumulation of blood under the skin or because of an infection, which can result in significant scarring.