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.

Do you smoke herbal cigarettes believing they are “natural”, “chemical-free”, and “tobacco-free”? You may be mistaken. New research, ahead of World No Tobacco Day 2026, has raised concerns over the growing popularity of herbal cigarettes, suggesting that herbal cigarettes are not safer than conventional cigarettes and may be equally harmful to health.

The new joint study by the Indian Institute of Technology Gandhinagar (IITGN) and the University of Illinois Urbana-Champaign (UIUC), US, has found that herbal cigarettes can produce emissions comparable to — and in some cases more harmful than — those generated by tobacco cigarettes.

The study, published in the Journal of Hazardous Materials, highlight significant health concerns surrounding herbal smoking products, many of which currently fall outside India’s primary tobacco control laws.

Leaf-wrapped Herbal cigarette Most Hazardous

The study compared emissions from two of India’s best-selling tobacco cigarette brands and four popular herbal cigarette varieties containing ingredients such as basil, clove, cinnamon, mint, green tea, water lily, and chamomile.

Two of the herbal products also used tendu (ebony) leaves as wrappers — the same material commonly used in bidis, India’s most consumed smoking product.

Also read: Global Temperatures Likely To Stay Near Record Levels For Next Five Years: WMO

Researchers analyzed the physical, chemical, and oxidative properties of mainstream smoke generated from the products. According to the study, herbal cigarette smoke released extremely fine particles and toxic compounds at levels similar to or exceeding those found in tobacco smoke.

“Our findings challenge the widely held belief that tobacco-free means risk-free. Emissions from herbal cigarettes are comparable to or exceed those from tobacco cigarettes on nearly every metric we measured. Leaf-wrapped herbal variants turned out to be the most hazardous of all the samples tested,” said Prof. Sameer Patel, Assistant Professor at IITGN’s Department of Civil Engineering and Chemical Engineering.

Fine Particles And Oxidative Stress

Further, the researchers combusted each cigarette inside a sealed automated two-chamber system designed to mimic human inhalation patterns, to decode particle size, chemical composition, and oxidative potential.

Shockingly, the team found that particles smaller than 500 nanometers — associated with cardiovascular and respiratory diseases — were emitted at nearly 20 per cent higher concentrations in herbal cigarette smoke compared to tobacco smoke.

The study also measured the “oxidative potential” (OP) of smoke particles — a marker of their ability to generate reactive oxygen species that contribute to inflammation, lung damage, and vascular disease.

According to the researchers, particulate matter from herbal cigarettes showed significantly higher oxidative potential than tobacco cigarettes. Tendu-leaf-wrapped variants recorded OP levels nearly 49 per cent higher than paper-wrapped products.

Notably, one basil-filled herbal cigarette marketed as “100% natural” and “chemical-free” showed the highest lead concentration among all products tested.

Prof. Vishal Verma, Associate Professor of Environmental Engineering at UIUC and co-author of the study, said the results are particularly significant because many consumers believe nicotine-free products are less harmful.

“That finding is important because many consumers associate nicotine-free products with reduced harm,” he said.

Concerns Over Regulatory Gaps

Read More: Can Sugary Drinks Cause Brain Aging?

Researchers also pointed to regulatory loopholes surrounding herbal cigarettes. India’s Cigarettes and Other Tobacco Products Act (COTPA), 2003, regulates tobacco products through health warnings, advertising restrictions, and public smoking rules. However, many products marketed as tobacco-free do not fall under the same regulatory framework.

Lead author Dr. Alok Kumar Thakur said several herbal cigarette brands claim therapeutic benefits, including relief from cough, anxiety, and sleep problems, despite limited scientific evidence on their safety.

“However, there is limited scientific evidence evaluating the emissions and toxicological impacts of these products,” he said.

The findings also align with the World No Tobacco Day 2026 under the theme, “Unmasking the appeal: countering nicotine and tobacco addiction.”

The researchers stressed the urgent need for evidence-based regulation and stricter oversight of alternative smoking products to prevent misleading health claims and protect public health.

Digestive disorders are becoming a global health issue affecting millions of people of all ages all over the world. Conditions such as acid reflux, fatty liver disease, irritable bowel syndrome, inflammatory bowel disease, constipation, and colorectal cancer are becoming more prevalent on a steady basis, fueled by changing diets, sedentary lifestyles, stress, poor sleep, alcohol consumption, and increasing obesity rates.

Early Symptoms Often Ignored

But digestive symptoms are often ignored until they are severe. Bloating, ongoing acidity, irregular bowel habits, abdominal discomfort, unexplained weight loss, or chronic fatigue are often brushed aside as temporary problems. In many cases, these early signs are reflective of an underlying gastrointestinal disease that is amenable to timely intervention.

Why Digestive Health Matters

This is a particularly important problem because digestive health impacts far more than just the stomach or intestines. The gut is key to immunity, metabolism, nutrient absorption, hormone regulation, and even mental health.

Damage to the gut can therefore impact many systems in the body. Colorectal cancer is diagnosed more frequently in younger adults worldwide, and fatty liver disease is one of the fastest-growing metabolic disorders worldwide. The increase in ultra-processed foods, reduced intake of fiber, and sedentary lifestyles have also played a part in digestive dysfunction in developed and developing countries alike.

This shift is also changing the way health care systems address preventive care and patient engagement.

Early screening, continuous monitoring, digital health tools, and data-driven care models are gaining importance in identifying digestive disorders before complications escalate.

Growing Role Of Preventive Care And Technology

As healthcare moves towards being more personalized and preventive, technology-enabled patient engagement and longitudinal health tracking are taking on a greater role in improving outcomes and supporting long-term disease management. Late diagnosis is still a big problem.

Many GI diseases develop silently for years before complications arise. For example, fatty liver disease can progress to liver inflammation or fibrosis without symptoms.

Similarly, inflammatory bowel diseases and gastrointestinal cancers are often more challenging to treat when diagnosed late. Diet also continues to be central to digestive health. Eating a diet high in fiber, staying well hydrated, getting enough physical activity, and eating less ultra-processed foods will promote healthy gut function and reduce risk over the long term.

World Digestive Health Day

World Digestive Health Day is a reminder that digestive symptoms shouldn’t be ignored or normalized. Early attention, timely diagnosis, and preventive care can greatly reduce the long-term burden of digestive disease worldwide.

(By Dr. Ashish Gautam, Principal Director, Robotic and Laparoscopic Surgery, Max Super Speciality Hospital, Patparganj, New Delhi)

Heart attacks are often associated with severe chest pain, but health experts warned that many cases present with unusual symptoms such as jaw pain and nausea that are frequently ignored or mistaken for less serious conditions.

Ischemic Heart Disease (IHD) or heart attacks is the leading cause of death worldwide, responsible for roughly 9 million deaths annually

Speaking to HealthandMe, the experts highlighted unusual symptoms that may indicate a heart attack — particularly in women, elderly people, and individuals with diabetes. These include:

• Jaw pain
• Nausea
• Sweating
• Dizziness
• Unusual fatigue
• Breathlessness
• Discomfort in the neck, back, or arms

Ignoring Symptoms Can Worsen Outcomes

Dr. Prasanthi Ganji, HOD - Emergency Medicine at Manipal Hospital, Gurugram, called these “referred symptoms”, where pain from the heart travels through shared nerve pathways and is felt in other parts of the body, including the jaw, neck, shoulders, or back.

The expert explained that nausea may occur because reduced blood flow and stress on the heart can affect the nervous system and digestive response.

Also read: Can Extreme Heat Trigger Heart Palpitations? Expert Explains Risks

According to her, many patients mistake these symptoms for acidity, fatigue, or muscle strain, leading to dangerous delays in treatment.

“Recognizing these warning signs during the critical golden hour can significantly improve survival and reduce long-term heart damage,” Dr. Prasanthi told HealthandMe, adding that symptoms lasting more than a few minutes should never be ignored.

Heart Attack: Silent Symptoms Often Overlooked

Dr. Saifa M. Latheef, Associate Professor and Clinical Head – Emergency Medicine at ShardaCare-Healthcity, said public awareness about silent or unusual heart attack symptoms remains low.

“Many people believe that a heart attack always causes severe chest pain. However, this is not true in every case,” she said.

Dr. Saifa noted that some patients may experience heaviness in the jaw, vomiting sensation, breathlessness, or extreme weakness without chest pain, causing them to delay emergency care.

“A heart attack occurs when blood flow to the heart suddenly gets blocked, making immediate medical attention crucial to save heart muscle and prevent complications,” the doctor told HealthandMe.

Doctors Warn Against Delaying Treatment

The health experts also flagged the delaying attitude of patients, which increases the risk of poorer outcomes.

Dr. Nitin Jagasia, Regional Director Emergency, Western Region, Apollo Hospitals, said the biggest mistake patients make is waiting too long before seeking help.

“As an emergency doctor, I meet patients every day who say, ‘Doctor, I thought it would go away,’” he told HealthandMe.

Dr. Jagasia warned that heart attacks do not always begin with crushing chest pain and that unusual symptoms like nausea, sweating, stomach discomfort, or unexplained fatigue are often mistaken for acidity or stress.

“A simple rule to remember is this: if a symptom is sudden, severe, or frightening, do not wait for it to pass,” he said.

Read More: Early Exposure To Lead And Lithium Can Cause A Lifetime Of Mental Exhaustion

How To Prevent

The experts emphasized that timely treatment, CPR awareness, and rapid emergency response remain the strongest defences against sudden cardiac emergencies.

They also highlighted the importance of preventive measures such as regular exercise, healthy eating, stress management, quitting smoking, and controlling diabetes and blood pressure.