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.

Immunotherapy isn’t always better than chemotherapy. Its benefits depend on the cancer type, stage and biomarkers. Similarly, “superfoods” do not cure cancer, health experts said while addressing comedian Rahul Dua’s claims about cancer treatment.

On a recent podcast, Dua opened up about a family member’s four-year cancer battle and his research into alternative treatments.

Dua said his family member began improving after switching from chemotherapy to immunotherapy. He also claimed that low-cost drug combinations, including ivermectin and fenbendazole, could have potential in cancer treatment and questioned whether pharmaceutical profits influence which treatments receive attention.

But what does science say? HealthandMe spoke to oncologist to fact-check these claims and address common cancer-treatment myths.

Immunotherapy Isn’t Always Better Than Chemotherapy

“Immunotherapy is not universally ‘better’ than chemotherapy. Benefit depends on cancer type, stage, and biomarkers such as PD-L1, MSI-H or TMB,” said Dr Shyam Aggarwal, Chairman, Medical Oncology, Sir Ganga Ram Hospital.

“In melanoma, mismatch-repair–deficient tumors and selected lung or kidney cancers, immunotherapy often outperforms or usefully combines with chemotherapy. In many other cancers, chemotherapy remains the backbone,” he added.

Patients should not decide their treatment on their own, the expert told HealthandMe.

Accurate diagnosis, staging and molecular testing require a multidisciplinary team. Shared decision-making with an oncologist is essential, as self-directed treatment choices can delay effective care and cause harm.

Also read: Wegovy & Zepbound Are Not Approved By US FDA For Children Under 12: So Why Are Prescriptions Rising?

‘Superfoods’ Don’t Cure Cancer

Dua also claimed that certain “superfoods” — including a high-protein, high-fat, low-fibre diet — combined with immunotherapy can cure cancer.

“‘Superfoods’ do not treat cancer. A balanced diet supports strength and treatment tolerance, but no food replaces proven therapy. Miracle-food claims lack rigorous evidence,” Dr Shyam said, stressing that patients should consult their oncologist for individualized, evidence-based care.

The Rs 50 Ivermectin-Fenbendazole Claim

Dua also spoke about a combination of ivermectin and fenbendazole, describing it as a “₹50 cancer treatment” that he believed could be more effective and questioned whether pharmaceutical profits were a factor.

“But since it was a 50 rupee cure. There is no profit for pharma in that. There is no profit for pharma in that. Off the record, there is this medicine combination of Ivermectin and Fenbendazole. Fenbendazole is a dog dewormer. It costs 20 rupees. Ivermectin is a horse dewormer. I am very convinced that as soon as my auntie moved from (4 years of) chemo to immunotherapy. (She) Started becoming better,” Dua shared during the podcast.

According to the American Cancer Society, ivermectin is not approved to treat cancer in people or animals, and no clinical guidelines recommend it as a cancer treatment.

"Ivermectin has not undergone the rigorous clinical trials needed to establish whether it is safe and effective as a cancer treatment in humans. Available research is insufficient to determine whether it could work as an anticancer drug," it says.

While ivermectin may be used at recommended doses to treat certain worm infections, large doses can be dangerous, potentially causing seizures, coma and even death. It may also worsen the side effects of standard cancer treatments such as chemotherapy.

Read More: Bill Ackman’s Daughter Gets Experimental Treatment For Vision Loss: When Can Mitochondrial Transplants Help?

Experts Warn Against ‘Miracle Cure’ Claims

Dua’s claims has drawn sharp criticism from oncologists, public health specialists and medical communicators, who warned that unscientific “miracle cure” claims could mislead patients into delaying evidence-based treatment.

“Don’t fall for this. A ₹50 cancer ‘cure’ that pharma is hiding is clickbait, not care. These people never follow it themselves and feel no responsibility when patients delay real treatment just so a video can go viral. Lives are not content,” Dr Rishabh Jain, Medical Oncologist, AIIMS Delhi, said on X.

Dr Arshiet Dhamnaskar, neurosurgeon at Western India Institute of Neurosciences, also said people not “trained in medical science should refrain from commenting upon it. As even one bit of misinformation can be disastrous.”

BBC News presenter Maryam Moshiri has opened up about her experience of living with an incurable blood cancer for the past two years.

Moshiri, 49, was diagnosed with Polycythemia Vera (PV) in November 2024. The condition affects the bone marrow and causes the blood to become thicker than normal.

While undergoing treatment, Moshiri has continued to work and has spoken about the challenges of managing her condition alongside her career.

“I love what I do. I love being where the story is. I don’t want to allow blood cancer to stop me from doing my work,” she told The Times.

Maryam Moshiri Opens Up About Living With Blood Cancer

Moshiri’s treatment involves having blood removed to reduce the concentration of red blood cells, a procedure that can leave her feeling exhausted.

She has also opened up about the challenges of continuing to work while experiencing fatigue related to her cancer treatment.

“I was working 14-hour days, constantly on air, constantly having to think on my feet, and holding it together, despite the fact that I had this chronic tiredness and fatigue,” she was quoted as saying.

“When you’re doing live news, you have this rush of adrenaline, and you just have to get on with it.”

Moshiri, who is a mother of three children aged 13, 11 and 9, also highlighted how she has struggled with constant fatigue while managing family life.

What Is Polycythemia Vera?

Polycythemia vera is a disorder in which the bone marrow produces excessive amounts of blood cells. In PV, the major problem is an overproduction of red blood cells.

An increased number of red blood cells means a higher proportion of cells are circulating in the blood. This can make the blood thicker and increase the risk of blood clots, stroke and heart attack.

Doctors therefore pay close attention to a patient's hematocrit, which represents the proportion of blood made up of red blood cells.

One of the major treatment goals is to keep hematocrit below 45%, which helps reduce cardiovascular risks.

How Is Polycythemia Vera Treated?

One of the traditional ways of controlling PV is removing some blood. The procedure, called phlebotomy, involves taking blood from a vein to reduce the number of circulating red blood cells and bring the hematocrit level down.

For some patients, this can become a recurring procedure. They may need repeated blood draws even while receiving standard treatment. This treatment burden is one reason a new drug for PV has attracted attention.

FDA Approves Drug for Polycythemia Vera

Late last month, the US Food and Drug Administration (FDA) approved Mimrylo (rusfertide) for adults with polycythemia vera (PV).

The drug is the first approved treatment for PV that mimics hepcidin, a naturally occurring hormone that regulates iron in the body.

The approval is particularly significant for patients whose disease remains inadequately controlled despite existing treatment and who need frequent blood-removal procedures.

“People living with polycythemia vera have long faced the challenge of managing a chronic blood disorder with frequent blood draws,” said Tanya Wroblewski, Director of the Division of Nonmalignant Hematology at the FDA's Center for Drug Evaluation and Research.

The FDA granted priority review and approved the drug to Takeda Pharmaceuticals America.

Air pollution has now become an inevitable aspect in many Indian cities, whether it is vehicular emissions, dust from construction activities, industrial pollutants, or smoke from burning crops. Some of the worst pollutants from the health point of view are those comprising PM2.5 (particulate matter 2.5).

Particulate matter 2.5 means the fine particulate matter measuring 2.5 microns in diameter or smaller, which is roughly 30 times smaller than the diameter of a human hair.

Due to their microscopic size, these particles can enter deep inside the lungs and even the blood stream. The WHO and the IARC have labeled outdoor air pollution and particulate matter as a carcinogen, which implies that it can lead to increased risk of cancer.

How does PM2.5 increase cancer risk?

Long-term exposure to PM2.5 is responsible for causing inflammation and oxidative stress within the body. Inflammation and oxidative stress will eventually result in DNA damage leading to an abnormal growth of cells.

The link between exposure to PM2.5 and cancer is well-documented, with lung cancer being the most established one, while others are still under investigation. According to WHO guidelines, long-term exposure to PM2.5 is linked to higher lung cancer mortality rates, even at lower concentrations.

This is highly relevant to India because air pollution in many Indian cities exceeds WHO recommendations.

Also read: Exposure To Air Pollution May Harm Male And Female Fertility, Expert Reveals

Practical ways to reduce your exposure

Even though individual measures may not solve the problem of air pollution completely, they do help to minimize personal exposure.

1. Keep an eye on the daily air quality

Monitor the AQI index before engaging in any outdoor physical activity and on polluted days, try to reduce the amount of time you spend outdoors.

2. Avoid pollution peaks

Early morning and late evening are typically times when pollution level is high. Plan your outdoor activities on less polluted days.

3. Use an N95 mask

When going out, especially commuting, during the days of high pollution use an N95 mask that helps to filter fine particles.

4. Improve indoor air quality

Close windows during heavy air pollution and install a HEPA filter air purifier if needed, especially for kids, elderly people and those who suffer from lungs diseases.

5. Reduce indoor pollution sources

Do not smoke indoors; use less incense and mosquito coil indoors, and make sure there is a good ventilation system in the kitchen when you cook.

6. Take care of general lung health

Never smoke, keep physically active during the days of decent air quality, and eat nutritious food with lots of fruit and veggies.

The bigger picture

Protecting yourself from the health risks of PM2.5 can be done by both individual means and also collective efforts. More sustainable modes of transport, better emission control policies, improved waste disposal facilities, and sound urban planning practices will become necessary eventually. In the meantime, we only have our knowledge and preventive steps to safeguard our health.

By Dr. Reshma Puranik, Cancer Physician, MOC Pune