Dr Swapnil Mate Cardiologist

What Are Lipids?

Lipids are biomolecules that are soluble in hydrocarbons that are used to dissolve those lipid molecules that do not easily dissolve in water. Lipids comprise fatty acids, glycerolipids, sterols, phenols, sphingolipids, polyketides, etc. The total number of cholesterol in the blood also affects the heart. There are two types of cholesterol, High-density lipoprotein, and low-density lipoprotein. The high-density lipoprotein is good for the heart since it helps in removing cholesterol deposits from the coronary arteries and transports them to the liver, which then removes them from the body. The low-density lipoprotein transports cholesterol from the liver to other tissues and cells, which use this as energy. Low-density lipoprotein, along with triglycerides, gets deposited in the arterial wall, obstructing the blood flow to the heart. This can cause a heart attack. Lipids get stored in the tissues of the liver, heart, spleen, brain, bone marrow.

Types Of Lipid Storage Disorder

The following types of lipid storage disorders are :-

this is an inherited metabolic disorder caused when the lysosomes fail to break down sphingomyelins, a type of sphingolipids, in cells. Symptoms include low platelet count in the blood, enlargement of spleen, liver, and bone marrow cavities which may cause reduced appetite, pain, difficulty in swallowing, abnormal posturing of limbs, face, slurring of speech, sleep deprivation, etc. Loss of myelin in this disorder majorly affects the central nervous system since myelin sheath assists in the speedy transmission of electrical impulses along the axon.

is a genetic disorder. The genetic mutation interferes with the function of an enzyme called alpha-galactosidase A that processes sphingolipids. This leads to substances build-up in the walls of the coronary arteries and also affects the kidneys and skin. Symptoms include pain in the gastrointestinal tract, kidney failure, presence of protein in the urine, thickening of cardiac muscle, shortness of breath, slow heart rhythms, etc.

It is a genetic disorder caused due to mutation of the GALC gene, in which the enzyme galactosylceramidase, is encoded. This disorder gradually damages the nervous system. Symptoms involve irritation, fever, vomiting, deafness. muscle weakness, seizures, blindness, difficulty during swallowing.

Is a disorder where sphingolipids get collected in the cells and other organs. It is characterized by the deficiency of an enzyme called galactosylceramidase, which gets accumulated in the white blood cells. This enzyme gets collected in the spleen, liver, kidneys, lungs, brain. Symptoms include enlargement of the liver, spleen, reduction in white blood cells and platelets, formation of the scar tissue in the liver, low bone density(osteoporosis).

Is a genetic disorder that damages the brain and nerve cells. Symptoms include the child becoming deaf, blind, speech and sound disorder, difficulty in swallowing, etc.

A hereditary condition that reduces the liver's ability to remove low-density lipoprotein. This increases the risk of having a heart attack

Is a disease where walls of the coronary arteries suffer damage due to the build-up of cholesterol deposits. This obstructs blood flow to the heart, leading to narrowing and hardening of arteries. Symptoms include shortness of breath, chest pain, sweating, arrhythmia, etc.

Signs And Symptoms

Even though lipid disorders do not appear with prior symptoms, excess storage of cholesterol in the walls of the coronary arteries can lead to:-

Chest pain(angina) - described as a sensation of heartburn, tightness, pressure, or squeezing. Even though chest pain may also arise due to non-cardiac causes, if that pain travels to the left arm, right arm, jaw, neck, etc.
Shortness of breath - As the heart rate changes, the breathing pattern will also change simultaneously. If the heart is not pumping blood efficiently, this causes shortness of breath. Therefore, shortness of breath mainly arises due to low oxygen in the blood.
Sweating
Fatigues, dizziness
Nausea or vomiting
Heart palpitations(irregular beatings of the heart)
Sudden death
Yellowish bumps on the skin due to accumulation of cholesterol. deposits in the tissues of the body
Formation of yellow lumps around the corners of the eye

Causes Of Lipid Storage Disorder

The causes that lead to lipid disorder are:-

Genetics - genes control every part of the circulatory system. If the parent has a lipid disorder, then the child is most likely to have symptoms or defects in the liver or spleen, since the child shares the DNA of its mother.
Increasing age - since during the period of late adulthood, the body's genetic programming reduces, the level of cholesterol tends to increase with age. due to the less capacity of the enzymes to break down lipids.
Smoking - actively smoking or increased exposure to smoke makes the blood sticky, and it is most likely to clot, which can obstruct the blood flow to the heart. It also lowers good cholesterol in the body.
High blood pressure - High blood pressure or hypertension makes the coronary arteries less elastic and increases low-density lipoprotein in the body.
Obesity - obesity is caused due to increase in fatty deposits in the adipose tissue. An increase in lipids in the body contributes to an increase in cholesterol in the blood.
Diabetes - When your body does not respond to insulin or does not produce much insulin, glucose remains in the bloodstream. This causes an increase in the blood sugar level. An increase in blood sugar damages the walls of coronary arteries due to fatty deposits in the walls.
Lack of physical exercise - Lack of physical activity increases blood cholesterol, blood pressure, and blood sugar levels.
Stress - A person can react to stress in ways that can contribute to a lipid disorder, for example, smoking, alcohol consumption. Overeating, etc.
Sleep - Not getting the required amount of sleep can lead to high cholesterol in the blood.
Consumption of a high cholesterol diet - increase in the consumption of dairy products like cheese, milk, butter, and red meats can increase cholesterol in the blood.

Treatments

Even though there are no treatments to cure lipid disorder, some medications and therapies can either reduce the amount of cholesterol in the body or cab replace the dysfunctional enzyme. This includes:-

Enzyme replacement therapy - this procedure is used when the individual is suffering from genetic lipid disorders like Gaucher disease, Fabry disease, etc. It is replaced by using a genetically modified enzyme that mimics the behavior of the original defective enzyme. It is injected through an intravenous wire connected through the femoral or radial artery. The enzyme reaches the bloodstream. For example for Gaucher disease, the enzyme galactosylceramidase is replaced by imiglucerase.
Medications - they include
- Statins to reduce cholesterol. They block the enzyme cytochrome P450 that is responsible for making cholesterol in the body.
- SGLT2 inhibitors or gliflozins reduce blood glucose levels without activating the release of insulin from the pancreas. They also reduce blood pressure in diabetic patients.
- SGLT2 inhibitors and GLP-1 help reduce obesity, hypertension, and blood sugar levels.
- PCSK9 inhibitors are also given to reduce cholesterol levels or low-density lipoprotein in the patient's circulatory system
- High doses of omega-3 can help reduce triglycerides and cholesterol from the bloodstream.
- Niacin, a B-vitamin, helps raise good cholesterol in the body.
- Lifestyle changes - this involves adhering to a strict diet plan that does not include foods that are high in cholesterol. Quitting consumption of alcohol and smoking can lead to a speedy recovery. Engaging in physical activities regularly can improve cardiac health. It can also help lose weight since weight loss can keep cholesterol, blood sugar, and blood pressure at optimum levels.

The faculty of Dr. Swapnil Mate's Cardiology clinic includes a team of preventive cardiologists. They engage in post-operational care of their patients by recommending them such health plans that help in reducing the risk factors that contribute to heart failures such as high blood pressure, high cholesterol, and high blood sugar levels. Consult Dr. Swapnil Mate for the best medical assistance.