What Exactly is FH?

overview

The genetic disorder is caused by a mutation on Chromosome 19 that codes for low-density lipoprotein (LDL) receptors, which either do not properly function or are missing. Since this discovery, over 1,700 mutations have been identified. In the body, cholesterol is produced to aid many vital functions. However, because of the aforementioned mutation, the body is unable to metabolize excess LDL-C that is constantly being produced, causing a significant build-up over time. This is extremely dangerous as it can lead to blockages in the arteries of the heart and/or brain.

Signs and symptoms

Homozygous FH (HoFH)

  • chest pain
  • shortness of breath
  • palpitations
  • faster heart beat
  • weakness
  • dizziness
  • nausea
  • excessive sweating
  • cramping in hip, thigh, or calf muscles
  • leg numbess or weakness
  • tendonitis
  • arthralgias
  • unusual skin lesions (ex: xanthomas)
  • corneal arcus
  • aortic stenosis murmur

Heterozygous FH (HeFH)

  • long standing history of high cholesterol
  • chest pain
  • shorntess of breath
  • palpitations
  • faster heartbeat
  • weakness
  • dizziness
  • nausea
  • excessive sweating
  • Achilles tendonitis
  • arthritic complaints
  • xanthomas
  • xanthelasmas

Complications from fh

Again, high LDL-C levels are associated with FH and can cause the narrowing or blockage of blood vessels which can cause heart disease, heart attack, or stroke. Since people are born with the disease, their risk of heart issues are twenty times higher than that of the non-afflicted population.

Many people also experience tiny, yellow bumps typically by their Achilles tendon. These bumps, or xanthomas, are fatty skin deposits made up of cholesterol. Some people also develop these around their eyes, which are not clinically significant, though some feel self-conscious about them.

Treatment

There currently is no cure, though treatment can help reduce the risk of heart disease and usually consists of a combination of dieting, exercise, and medication.

The biggest recommendation is to cut down on saturated fat intake. Cholesterol can also be absorbed through certain foods, so eliminating egg yolks and other organ meats (ex: livers) is recommended. Additionally, regular exercise is essential to maintaining a healthy weight.

There are two types of drugs that are prescribed for FH, but both work to lower blood cholesterol level. The first attempts at lowering LDL-C levels by inhibiting a certain enzyme which will allow for the production of more LDL receptors. These drugs are typically called statins. Other drugs boos the patient's levels of "good" cholesterol (HDL); however, are not as generously used because they do not simultaneously work towards reducing the risk of heart attack and stroke, as statins do.

Some people with the most severe form of FH require a procedure called apheresis. This requires blood or plasma to be removed from the body. Next, the substance is then ran through a filter which removes excess LDL-C, and then the blood or plasma is returned back to the body.