A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

Heart stents have saved countless lives and remain one of the most effective treatments for blocked coronary arteries. By improving blood flow to the heart, they help relieve chest pain and lower the risk of serious events such as heart attacks. Today, stent placement is a routine, minimally invasive procedure performed on millions of patients each year. Yet as more people live longer with stents, an important question is gaining attention: how well do these devices hold up over time inside a constantly moving, living artery?

Stents are widely used to treat blocked or narrowed arteries, particularly in people with severe or advanced coronary artery disease. By restoring blood flow, they help ease chest pain, known as angina, which occurs when the heart muscle does not receive enough oxygen and nutrients because of reduced circulation.

Each year, millions of patients undergo stent procedures, making it one of the most commonly performed minimally invasive treatments worldwide. While stents have transformed heart care, it is still important to understand their limitations, especially as newer and more advanced technologies continue to emerge.

Why Are Stents Placed In Blocked Heart Arteries?

Before looking at how stents behave over time, it helps to understand the environment in which they are placed. We got in touch with Dr. Tamil Selvan Muthusamy, Primary Investigator in the MY-IVL Study of Elixir Medical’s Device and Consultant Cardiologist at Cardiac Vascular Sentral Kuala Lumpur (CVSKL), who told us, that coronary arteries, which supply blood to the heart, are living, flexible structures. They bend, twist, stretch, and move constantly with every heartbeat to manage changing blood flow and pressure.

These arteries travel along the surface of the heart, wrapping around its curves from base to tip, delivering oxygen-rich blood to every heart muscle cell. As the heart contracts and relaxes, the arteries shift side to side, stretch lengthwise, and twist repeatedly. Blood flow within them also changes throughout the heartbeat, moving more slowly during contraction and faster during relaxation. This constant motion creates friction and stress along the artery lining, known as the endothelium.

Under healthy conditions, this stress helps maintain vessel function. However, when blood flow is disrupted, small areas of damage can occur, allowing plaques to form, harden, and eventually block the artery.

A stent is a tiny metal mesh tube mounted on a deflated balloon catheter and guided through the arteries to the site of blockage. Once the balloon is inflated, the stent expands, pushing the plaque aside. The balloon is then removed, leaving the stent in place to keep the artery open, much like internal scaffolding.

Why Does Heart Stent Performance Decline Over Time?

Over the past two decades, research has shown that stents can behave like rigid cages inside arteries. Dr Selvan Muthusamy told us that depending on their length and position, they may restrict the artery’s natural ability to bend, twist, stretch, and pulse with each heartbeat. This stiffness can damage the delicate inner lining of the artery and increase stress on the vessel wall by limiting its natural movement.

When these mechanical changes alter normal blood flow patterns, they can trigger inflammation or excessive tissue growth inside the stent. This process, known as restenosis, is one of the main reasons stents fail over time. Long-term studies suggest that stents have an annual failure rate of around 2 to 3 percent. For patients, this may show up as the return of chest pain and, in some cases, can lead to a heart attack.

As explained by Dr Selvan Muthusamy, the challenge lies in matching rigid implants with arteries that are meant to move continuously. When this balance is disrupted, long-term complications become more likely.

Can Lifestyle Changes Help Prevent Stent-Related Complications?

Healthy habits play a major role in protecting stents and overall heart health. Patients are advised to stop smoking, follow a heart-friendly diet low in salt and unhealthy fats, and stay physically active, such as walking for at least 30 minutes a day.

Dr Selvan Muthusamy said, “Managing weight, blood sugar, blood pressure, and cholesterol is equally important. Taking prescribed medications consistently, participating in cardiac rehabilitation, and attending regular follow-up appointments all help reduce strain on the arteries and lower the risk of complications.”

In recent years, newer technologies have also been developed to address some of the mechanical drawbacks of traditional stents. One such innovation is the bioadaptor implant. Unlike conventional stents that remain permanently fixed, the bioadaptor is designed to change over time. After about six months of healing, it unlocks within the vessel wall and becomes a dynamic scaffold. This allows the artery to regain flexibility, stretch, and natural pulsation. Studies have shown improved blood flow, healthier artery lining, and more than 50 percent better long-term outcomes compared to standard stents.

Warning Signs To Detect Problems With Heart Stents

The most common cause of stent failure is restenosis, where tissue growth gradually narrows the artery again. Patients should pay close attention to symptoms such as chest pain or pressure, shortness of breath, unusual fatigue, a rapid heartbeat, nausea, sweating, or swelling in the legs. These signs may become more noticeable during physical activity.

Seeking medical help promptly when these symptoms appear is critical. Early detection can prevent more serious complications, including heart attacks, and allow doctors to intervene before the problem becomes life-threatening.

High blood pressure is a serious health issue, but it usually causes no obvious symptoms until significant harm has already occurred. This makes it difficult for many patients to stay consistent with their medication. When you do not feel any immediate change after missing a pill, it becomes easier to forget doses or stop altogether.

Many people assume it is “not a big deal” to skip a dose now and then, or even to quit the medicine completely. In reality, blood pressure medication is often meant to be taken long term, sometimes for life, though certain medicines may need to be stopped or switched during pregnancy. In some cases, people may be able to gradually reduce or fully stop their medication if major lifestyle changes lead to a clear and lasting drop in blood pressure.

How Does Blood Pressure Medicines Work?

Blood pressure medicines, also called antihypertensives, lower high blood pressure in different ways. They may relax blood vessels, lessen how hard the heart has to work, or reduce the amount of fluid in the body. These effects help lower the risk of serious problems such as heart attacks and strokes.

According to Medline Plus, these drugs work by blocking hormones that tighten blood vessels, helping the kidneys flush out excess salt and water, slowing the heart rate, or stopping calcium from tightening the arteries, which allows blood to move more freely.

What Happens When You Stop Taking Blood Pressure Medications?

If you miss a dose, it is usually best to take it as soon as you remember, unless it is close to the time for your next dose. Skipping one dose is generally less risky than taking too much. To avoid forgetting, it helps to take your medication at the same time every day and link it to a daily habit. For example, morning pills can be taken with breakfast, while evening pills can be kept near your toothbrush.

Along with choosing a regular time, your doctor may also suggest a specific time of day. One large study found that taking blood pressure medicine at bedtime significantly lowered the risk of heart attack.

Is It Safe To Stop Your Blood Pressure Medicine If Your Numbers Improve

According to Health Central, it is understandable to think about stopping your medication once your blood pressure readings improve and you feel well. However, you should never stop taking these medicines, especially all at once, without speaking to your doctor first.

Stopping blood pressure medication suddenly can lead to withdrawal effects that vary in severity, including:

• Blurry vision
• Chest pain
• Fatigue
• Headaches
• Irregular heartbeat
• Lightheadedness
• Rebound hypertension
• Rebound water retention
• Shortness of breath

When high blood pressure is no longer treated, your readings may return to previous levels or rise very quickly and dangerously, leading to what doctors call a hypertensive crisis. This is defined as a blood pressure reading above 180/120. It is a medical emergency and raises the risk of:

• Blindness
• Heart attack
• Heart failure
• Kidney damage
• Stroke

The harm caused by a hypertensive crisis is not always reversible and can sometimes be life-threatening.

When Can You Stop Taking Blood Pressure Medicine?

If you and your doctor decide that trying life without blood pressure medication is possible and something you want to explore, the safest approach is tapering. This means slowly reducing the dose over time rather than stopping suddenly.

Before doing this, you will need to regularly monitor your blood pressure at home while still on medication and share those readings with your doctor. If your numbers stay consistently at the lower end of the normal range while on treatment, such as around 115/80 mmHg or lower, your doctor may consider gradually reducing your dependence on medication.

Disclaimer: This information is meant for general awareness only and should not be treated as medical advice. Blood pressure medications affect each person differently, and stopping or changing your dose without proper medical guidance can be dangerous. Always speak to a qualified doctor or healthcare provider before starting, adjusting, or discontinuing any medication.

People who are prescribed a widely used medication are being advised to contact a doctor if they notice certain symptoms. As per Mirror, health officials say these “serious” side effects should not be delayed or ignored and may need medical review sooner rather than later. Diltiazem is a drug commonly given to manage high blood pressure. It is also sold under brand names such as Adizem, Angitil, Tildiem, Viazem, and Zemtard.

Doctors prescribe it to people with high blood pressure to lower the risk of coronary heart disease, heart attacks, and strokes. The medicine helps by reducing blood pressure and allowing the heart to pump blood more easily through the body. However, new warnings linked to the drug have now been highlighted.

What Is Diltiazem?

Diltiazem belongs to a group of medicines called calcium channel blockers. It is used to treat high blood pressure, long-term stable angina, which causes chest pain, and certain types of irregular heartbeats. The drug works by relaxing blood vessels and easing the strain on the heart. According to Medline Plus, common side effects may include dizziness, headaches, swelling, and a slower heart rate. It is mainly prescribed for hypertension, angina, and heart rhythm conditions such as atrial fibrillation. In some cases, it is also used in cream form to help treat anal fissures.

The NHS website also states that diltiazem may be used to:

• Prevent chest pain linked to angina
• Lower the number of attacks in people with Raynaud’s phenomenon
• Support the healing of an anal fissure

Like most medicines, diltiazem can cause side effects, although many people may not experience any. The NHS notes that there are several “common” side effects patients should be aware of.

Diltiazem Common Side Effects

These effects are seen in more than one in 100 people. The NHS explains: “They are usually mild and do not last long. There are ways to help manage them.”

They include:

• Swelling in the hands, ankles, or feet
• Headaches
• Dizziness or feeling light-headed
• Feeling tired, weak, or generally unwell
• Feeling hot, flushed, or noticing redness of the skin
• Itching or a burning feeling on the skin where the cream or ointment is applied
• Stomach discomfort
• Indigestion
• Constipation

The NHS adds: “Talk to a doctor or pharmacist if coping advice does not help, or if a side effect continues or becomes troublesome.”

Diltiazem Serious Side Effects

In rare cases, diltiazem may lead to “serious side effects.” These are reported in fewer than one in 10,000 people.

According to the NHS, you should “stop taking diltiazem and contact a doctor or call 111 immediately” if:

• You experience severe stomach pain
• The whites of your eyes or your skin turn yellow, which may be harder to notice on brown or black skin and could point to liver problems
• You become aware of your heartbeat or notice palpitations

You should also call 999 or go straight to A&E if you have chest pain that does not ease after a few minutes, or if chest pain is new or worse than usual when you already have angina. This may indicate a heart attack and requires urgent medical attention.