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.

People across the UK are being urged to follow basic safety steps as concerns grow over so-called “evolving” bacteria. A few decades ago, antibiotics were routinely prescribed for a wide range of illnesses and minor infections.

Today, many GPs are far more cautious about giving them out, largely because of the steady rise in bacteria that no longer respond to treatment. Figures from the UK Health Security Agency show that close to 400 antibiotic-resistant infections are being recorded every week in England.

What Are Antibiotic-Resistant Infections?

According to the World Health Organisation (WHO), antibiotic-resistant infections develop when bacteria change over time and stop responding to the medicines meant to kill them. As a result, infections that were once easy to treat become much harder, and in some cases impossible, to cure. This can lead to serious illness, longer hospital stays, and a higher risk of death.

While antibiotic resistance can occur naturally, the WHO warns that misuse and overuse of antibiotics in both humans and animals greatly speeds up the process. This allows resistant bacteria, often referred to as “superbugs,” to survive, multiply, and spread more easily.

Why Is Antibiotic Resistance Dangerous?

The biggest risk linked to these “superbugs” is that they are much harder to treat because standard antibiotics no longer work against them. Infections caused by resistant bacteria can lead to serious complications, including pneumonia and bloodstream infections, which can be life-threatening if not controlled quickly.

In a post shared on X, the UKHSA said: “Bacteria are evolving against antibiotics, with nearly 400 new resistant infections appearing each week in England.” NHS guidance has also warned that several bacteria have already developed resistance as a result of antibiotic overuse. These include MRSA, Clostridium difficile, and the bacteria linked to multidrug-resistant tuberculosis.

A major concern is that this growing trend could eventually lead to new strains of bacteria that cannot be treated with any existing antibiotics.

How To Reduce The Risk Of Antibiotic-Resistant Infections?

According to UKHSA advice, people can play a role in slowing the spread of resistant bacteria by following a few simple precautions in daily life. These include:

• Returning unused antibiotics to a pharmacy so they can be disposed of safely and do not contribute to resistance in the environment
• Practising safe sex, particularly to reduce the spread of infections such as gonorrhoea, which is becoming harder to treat
• Staying up to date with vaccinations, which can help prevent infections in the first place
• Talking to a healthcare professional before taking antibiotics, as they are not always necessary
• Washing hands thoroughly and staying at home when feeling unwell to avoid spreading infection

Many people rely on over-the-counter medicines, but a pharmacist has recently cautioned against the frequent use of some well-known remedies. Occasional indigestion or heartburn is common, but if these symptoms keep returning, there are important health points to be aware of to avoid creating bigger problems.

A pharmacist who goes by Pharmacist Anum on TikTok has shared a warning for people who regularly turn to these treatments. She explained that using certain medications too often can lead to complications, and said it is crucial for people to understand the risks before depending on them long term.

Health Warning For Taking Indigestion Medicines

This is not the first time she has offered such guidance. Only a few weeks earlier, she highlighted key concerns around taking excessive amounts of paracetamol. In her recent video, Pharmacist Anum said: “If you’re taking over-the-counter medicines without being properly checked, you could actually be doing more harm than good. The first group of medicines I’m talking about are those used for indigestion.

“Think about products like Gaviscon, Rennies, and esomeprazole. These are easy to buy over the counter in the UK and, for most people, they are safe when used for a short time.

“Problems arise when people start depending on them, taking them several times a week or even more often. If that sounds familiar, I would urge you to speak to your GP so they can look into what’s really causing your symptoms. Using these medicines too much can raise the risk of side effects and may also hide symptoms of a more serious issue.” In the same video, she also spoke about the risks linked to overusing common painkillers. She added that there are specific things people should understand about indigestion treatments.

What To Do If You Take Indigestion Medicines

Taking indigestion medicines too often, including antacids and proton pump inhibitors (PPIs), can conceal serious health problems and may lead to notable side effects. These can include kidney-related issues, such as stones or damage, as well as electrolyte imbalances, including low sodium or potassium levels.

Using the recommended dose for a short period is generally safe, but long-term use can interfere with normal digestion and may even lead to dependency. This is why it is important to seek medical advice if symptoms continue, so the underlying cause can be identified.

If you have been using these medications for an extended period, or even for years, it is important to speak with your doctor. A discussion about the risks and benefits can help determine whether there may be another health issue behind your symptoms.

What The NHS Says

According to the NHS website: “Always follow the instructions provided with Gaviscon or the guidance given by your doctor. The dose you need depends on the type of Gaviscon you are using.

“If you experience occasional mild heartburn or indigestion, take Gaviscon only when needed. If heartburn or indigestion is frequent, Gaviscon can be taken up to four times a day.

“The most effective times to take it are after meals and before bedtime, whether or not symptoms are present, as discomfort often worsens during these periods.

“If you have been taking Gaviscon for more than seven days and still feel uncomfortable or in pain, speak to your doctor. If you have used Gaviscon regularly over a long time, consult your doctor before stopping, as stopping suddenly may cause symptoms to return.” Further details are available on the NHS website.

Disclaimer: This article is for general information only and is not a substitute for professional medical advice, diagnosis, or treatment. Always follow the instructions on medication labels and consult a qualified healthcare professional or your GP before starting, stopping, or changing any medication. If symptoms persist, worsen, or recur frequently, seek medical advice promptly.

A major international study has revealed that 99% of heart attacks, strokes, and serious cardiovascular events are linked to just four common health risk factors: high blood pressure, high cholesterol, elevated blood sugar, and tobacco use.

The research drew on data from more than 9 million adults in the United States and South Korea, making it one of the largest studies of its kind. Published in 2025, the findings underscore the vital role of early prevention and lifestyle management in reducing cardiovascular risk, as per NDTV.

Even among younger women under 60, a group generally considered at lower risk, over 95% of heart attacks, strokes, and other major cardiovascular events were connected to at least one of these four factors.

High Blood Pressure Leads The Risk

High blood pressure, or hypertension, stood out as the biggest contributor, affecting more than 93% of people who suffered a heart attack, stroke, or heart failure.

“We believe this study demonstrates very clearly that exposure to one or more of these preventable risk factors before major cardiovascular events is nearly universal,” said senior author Dr. Philip Greenland, professor of cardiology at Northwestern University Feinberg School of Medicine.

He added, “The focus now should be on controlling these modifiable factors rather than chasing other less treatable or non-causal risks.”

How Can High Cholesterol Lead To Diabetes?

High cholesterol can trigger heart attacks by contributing to plaque buildup, or atherosclerosis, along the walls of arteries, as per Mayo Clinic. This buildup narrows the arteries and limits blood flow to the heart. If a plaque ruptures, it can cause a blood clot to form, fully blocking the artery. This prevents oxygen-rich blood from reaching the heart muscle, resulting in tissue damage or death, often in the coronary arteries.

How Does Elevated Sugar Lead To Diabetes?

Consuming too much sugar harms blood vessels, triggers inflammation, and contributes to weight gain, high blood pressure, and poor cholesterol levels. Together, these effects speed up plaque buildup (atherosclerosis) in the arteries, limiting blood flow and sharply increasing the risk of a heart attack.

Excess sugar is converted into fat, raises triglyceride levels, lowers “good” HDL cholesterol, and can lead to insulin resistance, creating a cluster of metabolic problems, known as metabolic syndrome—that directly strain the heart.

Early Detection and Management Are Key

The results highlight the urgent need for regular health checks, early screening, and proactive management of common conditions to prevent life-threatening heart problems.

Greenland and his team also point out that their findings challenge earlier reports suggesting cardiovascular events can occur without risk factors. They argue that previous studies may have missed subtle conditions or overlooked risk factors that were below clinical thresholds.

In a related editorial, Duke University cardiologist Dr. Neha Pagidipati, who was not involved in the study, stresses that addressing these health risks early is critical to preventing severe and potentially fatal cardiovascular outcomes.