Lipohypertrofin

Lipohypertrofin is a rare genetic disorder characterized by the abnormal accumulation of fat in various parts of the body, including the face, neck, and limbs. This condition is caused by mutations in the LIPT1 gene, which is responsible for encoding the enzyme lipase, an enzyme that breaks down triglycerides into fatty acids and glycerol. The mutations in the LIPT1 gene lead to a deficiency in lipase activity, resulting in the accumulation of triglycerides in the body's tissues.

The clinical manifestations of lipohypertrofin vary among individuals, but they typically include a distinctive facial appearance with a prominent jawline and a "buffalo hump" on the back of the neck. Other symptoms may include short stature, joint stiffness, and muscle weakness. The condition is usually diagnosed in infancy or early childhood through physical examination and genetic testing.

There is currently no cure for lipohypertrofin, and treatment options are limited. Management focuses on addressing the symptoms and improving the quality of life for affected individuals. This may include physical therapy to improve muscle strength and flexibility, and the use of medications to manage joint pain and stiffness. In some cases, surgery may be recommended to correct the facial appearance and improve the self-esteem of affected individuals.

Lipohypertrofin is a rare disorder, with an estimated prevalence of less than one in one million individuals. It is inherited in an autosomal recessive pattern, meaning that both copies of the LIPT1 gene must be mutated for the condition to occur. Individuals with one copy of the mutated gene are typically unaffected and can serve as carriers of the disorder.