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9 warning signs of PFIC liver disease

9 warning signs of PFIC liver disease

Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare and challenging liver disorder affecting individuals across the globe. This genetic condition disrupts the normal flow of bile from the liver, leading to many health complications. PFIC is primarily caused by mutations in genes responsible for bile transport proteins, which impair the liver’s ability to excrete bile properly. As a result, individuals with PFIC experience a variety of symptoms. Some of the warning signs to look out for include:

Persistent jaundice
Jaundice, characterized by a yellowing of the eyes and skin, is a key indicator of liver dysfunction. In PFIC, this discoloration persists due to the impaired bile flow from the liver. Bile contains bilirubin, a pigment formed during the breakdown of red blood cells. When the liver cannot effectively excrete bilirubin, it accumulates in the bloodstream, causing the distinctive yellow hue associated with jaundice.

Pruritus
The intense itching experienced by individuals with PFIC is a consequence of elevated bile acids in the skin. These acids accumulate due to impaired bile flow, triggering a maddening itch that can significantly impact daily life and sleep. The constant scratching may lead to skin damage, creating a challenging cycle for those grappling with this symptom.

Pale stools and dark urine
Changes in stool and urine color are indicative of PFIC-related issues. Pale or clay-colored stools result from the insufficient passage of bilirubin into the intestines, impacting the color of the stool. On the other hand, dark urine signifies increased bilirubin excretion through the kidneys, a direct consequence of impaired liver function.

Enlarged liver or spleen
In individuals with PFIC, a physical examination may reveal an enlarged liver or spleen. The strain on these organs stems from the disruption in bile flow, which can lead to inflammation and enlargement. Monitoring the size of these organs becomes a diagnostic marker and aids in assessing the progression of the disease.

Growth retardation
PFIC can contribute to overall growth retardation in affected children. The compromised ability to absorb vital nutrients due to impaired bile flow affects physical development, height, and overall growth. Pediatricians play a crucial role in monitoring and addressing these developmental challenges.

Bleeding disorders
The liver plays an essential role in producing clotting factors that are necessary for normal blood clotting. However, in PFIC, impaired liver function can lead to bleeding disorders, making individuals more prone to easy bruising and prolonged bleeding. Managing these bleeding disorders becomes a crucial aspect of comprehensive care for those living with PFIC.

Frequent infections
A weakened immune system is a consequential aspect of PFIC. The liver’s role in immune function is compromised as the disease progresses, leading to an increased susceptibility to recurrent infections. Managing and preventing these infections becomes a key component of the overall healthcare strategy for individuals with PFIC.

Gallstones
The disruption in bile flow in PFIC increases the risk of gallstone formation. Bile, essential for the breakdown of fats, can become supersaturated with cholesterol, leading to the formation of gallstones. Gallstones can cause pain and complications, adding a layer of concern for individuals with PFIC.

Abdominal pain
Individuals with PFIC may experience abdominal pain or discomfort, often associated with the strain on the liver and related complications. Managing pain becomes an integral part of the overall care plan for those living with PFIC, improving their quality of life.

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Understanding arthritis – A common joint condition

The joints are constantly working while we move our limbs, so, understandably, people may develop certain joint conditions that cause pain and compromise mobility, especially with age. One of the common joint conditions is arthritis, which leads to joint inflammation and mild to severe pain. While there are several types of arthritis, the two most common types are rheumatoid arthritis and osteoarthritis. Stages Rheumatoid arthritis has four stages: Stage 1: At this stage, inflammation occurs inside the joints, and swelling, stiffness, and joint pain are the common symptoms. Stage 2: The inflammation of the joint lining, synovium, aggravates at this stage and results in cartilage damage. The affected joints’ range of motion is also compromised, causing pain and discomfort. Stage 3: At this stage, the severity of the joint condition increases, and it leads to bone damage. This results in more pain, loss of mobility, and weakness of muscles. The bones rubbing against each other can cause bone deformity as well. Stage 4: This is the final stage where the joints stop functioning completely. It leads to more pain, stiffness, and swelling, and the bones may even fuse, which is known as ankylosis. Osteoarthritis also has four stages of progression: Stage 1: Wear and tear may affect the knee joints, and minor spur growths on the affected bone can also be seen, but the condition does not cause too much pain at this stage. Stage 2: The bone spur growths increase and cause pain, and the knee joints become stiffer. Stage 3: This stage is characterized by joint inflammation leading to increased pain and stiffness. Walking can also cause popping sounds in the joints. Stage 4: The space between the bones in the joints becomes very narrow, causing the cartilage to wear down. Also, a chronic inflammatory response caused by the breakdown of cartilage aggravates discomfort and pain. Diagnosis of arthritis These joint conditions can be diagnosed using several tests. A physical examination reveals whether a patient has red, warm, and tender joints, and this test also helps examine the fluid around the joints. A rheumatologist can analyze the level of inflammation in the joints to determine the type of arthritis an individual is affected with. Also, blood tests are undertaken to check for antibodies like anti-CCP, rheumatoid factor, and antinuclear antibody. In addition, X-ray, CT scans, and MRI are also performed to check the condition of the cartilage and bones. Prevention of arthritis A family history of joint conditions like arthritis or aging can increase one’s risk of developing arthritis, but making certain lifestyle changes can also help lower the chances of developing the condition. To start with, one should include more foods with omega-3 fatty acids in their diet as these healthy fats are anti-inflammatory. One should also exercise regularly, keep their weight under check, reduce stress on their joints, and try to avoid injuries. Also, if one notices any symptoms of arthritis, they should consult a doctor immediately as early diagnosis goes a long way in managing the condition effectively through timely treatment.

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7 warning signs of an aortic aneurysm

The aorta is the largest artery in the human body, responsible for carrying oxygenated blood from the heart to different parts of the body. If there is a weakness in the walls of the arteries, they can become enlarged, leading to a condition called an aneurysm. An enlargement or bulging of the aorta beyond 5cm is known as an aortic aneurysm. In the early stages, there are no noticeable signs of an aneurysm.  As the condition worsens, the following signs and symptoms may emerge: Pain A large aortic aneurysm that dissects or leaks blood may result in severe pain in the jaw, neck, or upper back. This pain may further extend to the chest and back. Some people have also reported a pulsating sensation in the abdomen. In the case of an abdominal aortic aneurysm, one may feel a deep, throbbing pain in the back or the sides, along with pain in the buttocks, groins, or legs. Difficulty breathing An aneurysm could result in pressure on the trachea. If this occurs, one may experience symptoms like wheezing, coughing, and shortness of breath. Rapid heart rate Bulging of the aorta may cause the heart to function harder. This pressure could lead to a rapid heart rate, often accompanied by clammy hands. Dysphagia An aneurysm could lead to pressure on the esophagus. This can cause dysphagia, or difficulty swallowing. Voice changes If the aneurysm affects or pressurizes the vocal cords, it can lead to a hoarse voice. Dizziness or lightheadedness Rupturing of the aortic aneurysm is a life-threatening emergency. If it occurs, symptoms may include weakness, dizziness, lightheadedness, paralysis on one side, or even loss of consciousness. Immediate medical attention is necessary. Obstruction of blood circulation Unruptured aneurysms may obstruct blood circulation in the body. This condition is known as thromboembolism and could have serious consequences, such as an ischemic stroke. Depending on the part of the body affected, there are two main types of aortic aneurysms: abdominal and thoracic. Risk factors Those with a family history of aortic aneurysm have a higher risk of developing the condition. Other risk factors include: Age Genetic conditions like Marfan syndrome or Ehlers-Danlos syndrome (which affect the body’s connective tissue). Bicuspid aortic valve disease Plaque formation in the arteries (hardened arteries or atherosclerosis) An unhealthy lifestyle could also increase one’s risk of developing this condition. Diagnosis Doctors generally use imaging tests such as a heart ultrasound (echocardiogram), chest X-ray, CT or MRI scan, or angiography to diagnose an aortic aneurysm. In some cases, doctors may even recommend genetic testing. Treatment options Treatment for an aortic aneurysm may include monitoring to check the size and rate of growth of the aneurysm, managing risk factors (for example, controlling blood sugar and pressure levels), and taking prescriptions to manage cholesterol or blood pressure. In severe cases, surgeries such as thoracic endovascular aortic repair (TEVAR), hybrid aorta surgery, aorta surgery, valve-sparing aortic root replacement, or aortic valve surgery may be necessary. Additionally, lifestyle changes can help one prevent this life-threatening condition. Some preventive measures include controlling blood pressure, eating healthy, and minimizing the intake of trans fats and highly processed foods.

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What you should know about depression

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Important things you should know about diabetes

The pancreas is an important organ in our body that produces insulin. It is required to help the glucose pass to our cells from the blood. That is how energy is created, which is the fuel we require to function. When the pancreas is unable to produce insulin, the glucose level in one’s blood increases. This can result in diabetes, which can lead to organ damage. Types of diabetes There are mainly three kinds of this disease. Type 1 diabetes It can be most commonly seen in children and adolescents. Having said that, it can occur at any age. The insulin production of one’s body decreases with this condition, and they require daily injections to control their glucose levels. Type 2 diabetes Around 90% of people who have diabetes suffer from this type. It is most commonly seen in adults and results in one’s body failing to properly use the insulin that is produced. It can be kept under control by maintaining a healthy lifestyle, but one may also require medicine in the advanced stages. Gestational diabetes This can be seen during pregnancy if the glucose level in one’s blood increases. It can affect both the child and the mother.
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Gout – Diagnosis, stages, and prevention

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