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Achilles - MedlinePlus Genetics

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Last Updated: 10 December 2022

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Familial hypercholesterolemia

Familial hypercholesterolemia is an inherited disease with elevated blood cholesterol levels. A person's risk of heart disease rises as a result of a high cholesterol intake. People with familial hypercholesterolemia are at a high risk of developing coronary artery disease at a young age. This condition occurs when excess cholesterol in the bloodstream is deposited on blood vessels' inner walls, particularly the arteries that supply blood to the heart. The buildup of plaque plaques in coronary arteries leads to angina of chest pain, and it greatly raises the risk of experiencing a heart attack. In addition to the accumulation of excess cholesterol in tissues other than the heart and blood vessels, family hypercholesterolemia can also lead to health issues.

Source link: https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia


Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is a condition that is characterized by increased fat storage in several regions of the body. Because such lipids, specifically different forms of cholesterol, are unable to break down certain lipids properly, specifically different forms of cholesterol, people with this disorder are unable to break them down, these fats build in the body in the form of fatty yellow nodules called xanthomas. People with cerebrotendinous xanthomatosis often have neurological difficulties in early adulthood, which are thought to be triggered by an abnormal accumulation of fats and an increasing number of xanthomas in the brain. Degeneration of brain tissue as a result of excessive lipid deposits also contributes to the neurological disorders. The tendons in the hands, elbows, knees, neck, and Achilles tendon, which connects the heel of the foot to the leg tendons, are the most common areas for xanthomas. Tendon xanthomas can cause discomfort and interfere with tendon flexibility. Although many people are affected by tendon xanthomas, these nodules are not readily apparent under the skin, and they are unlikely to be easily apparent underneath the skin. People with cerebrotendinous xanthomatosis are also at risk of cardiovascular disease or respiratory failure as a result of lipid accumulation in the heart or lungs, respectively. The signs and symptoms of cerebrotendinous xanthomatosis worsen over time if untreated, but those that are affected have a wide variety of ailments; however, this disorder can be chronic.

Source link: https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis


Laing distal myopathy

Laing distal myopathy is a disease that affects the skeletal muscles, which are muscles that the body uses for mobility. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. Many people with hand tremors also experience hand tremors. Laing distal myopathy causes muscle weakness in the hands and feet, as well as muscle pain in several muscles of the neck and face. Laing distal myopathy progresses gradually, but the majority of patients remain active throughout life.

Source link: https://medlineplus.gov/genetics/condition/laing-distal-myopathy


Costello syndrome

Costello syndrome is a medical disorder that affects several areas of the body. Heart irregularities are common, including an abnormal heartbeat, structural heart abnormalities, and a form of heart disease that expands and weakens the heart muscle. Infants with Costello syndrome may be larger than average at birth, but most infants are still having trouble feeding and growing more slowly than other children. People with Costello syndrome are at a higher risk of developing such cancerous and noncancerous tumors from early childhood. Costello's most common cancerous tumor is a juvenile cancer called rhabdomyosarcoma, which starts in muscle tissue. In addition, some teenagers with Costello syndrome also developed transitional cell carcinoma, a form of bladder cancer that is typically seen in older adults. Costello syndrome's signs and symptoms are closely related to those of two other medical disorders, cardiofaciocutaneous syndrome, and Noonan syndrome.

Source link: https://medlineplus.gov/genetics/condition/costello-syndrome


Sitosterolemia

However, some people with sitosterolemia have normal cholesterol levels. Signs and symptoms of sitosterolemia may begin early in life after plant sterol-containing foods are introduced into the diet, although some affected individuals have no apparent signs or symptoms. The accumulation of fatty deposits in arteries in people with sitosterolemia can occur as early as childhood. Xanthomas, or sitosterolemia-induced spotting in childhood, are small yellowish growths that appear in childhood. They can also occur in the bands that connect muscles to bones, such as tendons of the hand and the tendon that connects the heel of the foot to the calf muscles. Individuals with sitosterolemia may also have joint stiffness and pain as a result of plant sterol deposits. The red blood cells can be broken down prematurely, resulting in a red blood cell deficit. stomatocytes, a red blood cell type that is often found in affected individuals may have abnormally shaped red blood cells.

Source link: https://medlineplus.gov/genetics/condition/sitosterolemia

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions