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.

Clear vision does not always mean that the eyes are healthy. Diabetes can damage the retina the sensitive layer at the back of the eye long before a person notices any change in eyesight.

This happens because high blood sugar can weaken the blood vessels that supply the retina causing them to leak fluid or blood.

What happens as retinopathy progresses?

Diabetic retinopathy is a complication in which high blood sugar damages the blood vessels. In the stages these vessels may swell or develop small areas of bleeding without affecting vision.

As the condition advances, reduced blood supply can cause abnormal new blood vessels to grow. These vessels are fragile. May bleed into the vitreous the clear gel inside the eye. In some cases, scar tissue can pull the retina away from its normal position leading to retinal detachment and potentially permanent vision loss.

Also read: Eye Drop Recall: Nearly 750,000 Products Pulled Over Sterility Concerns in US

How diabetes affects central vision

Diabetes can also affect the macula, the part of the retina responsible for sharp detailed vision. When fluid builds up in this area it can cause macular oedema and gradually affect the quality of vision.

It may lead to:

• Distorted central vision
• Difficulty reading or recognising faces
• Problems with activities that require clear detailed vision, such as driving

Diabetic macular oedema can occur at different stages of diabetic retinopathy and does not always cause symptoms in the early stages.

Also read: Eye Twitching: Is It Just Stress Or Something Serious?

Who is at risk?

The likelihood of eye damage increases with the duration of diabetes and poor blood sugar control. High blood pressure, abnormal cholesterol levels and kidney disease can further increase the risk.

Women with diabetes may also need monitoring during pregnancy as hormonal and blood sugar changes can worsen existing retinal disease.

Why regular eye examinations matter

On World Sight Day, doctors recommend that a routine eyesight test may not detect damage to the retina. People with diabetes should therefore undergo an eye examination, including a dilated retinal examination at intervals recommended by their ophthalmologist.

Keeping blood sugar, blood pressure and cholesterol, under control can help reduce the risk of complications. If damage is detected treatment may include eye injections, laser therapy or surgery depending on its severity.

Diabetic eye disease can often be managed effectively when identified early. Regular retinal examinations remain important when a person can see clearly as changes may develop before symptoms appear.

By Dr Ashu Agarwal, Senior Consultant, Opthalmology, Indraprastha Apollo Hospital, Delhi

Menopause is a natural stage of aging that ends menstruation and reproductive function. It usually occurs between ages 45 and 55.

But growing interest in extending the reproductive years has raised a question: Can menopause be delayed, and would doing so actually benefit women's health?

Longevity influencer Kayla Barnes-Lentz, in her mid-30s, recently told Business Insider that she is trying to delay menopause until 60 using lifestyle changes and experimental treatments.

Can Menopause Be Delayed?

Scientists are studying ways to slow ovarian aging, including ovarian tissue freezing and drugs such as rapamycin.

Early human research suggests rapamycin may slow ovarian aging by around 20%. However, evidence remains limited, and the drug is not FDA-approved for delaying menopause. Its use for this purpose is off-label.

The 2024 Research by Dr. Kutluk Oktay at Yale School of Medicine has also explored whether menopause could eventually be postponed or prevented by preserving ovarian function.

But delaying menopause is not necessarily an all-round health benefit. Longer estrogen exposure may support bone, heart and brain health, while potentially increasing the risk of some hormone-sensitive cancers.

What Are The Risks Of Early Menopause?

Also read: ‘I Was Vocal About Cancer But Silent About Menopause Out Of Shame’, Says Actress Lisa Ray

Menopause around age 45 or younger can affect several aspects of health as estrogen levels fall.

• Bones: Faster bone loss and higher osteoporosis risk.
• Heart: Changes in blood vessels and cholesterol may increase cardiovascular risk.
• Brain: Hormonal changes can affect memory and cognition.
• Sexual health: Vaginal dryness and reduced lubrication can cause discomfort.
• Urinary health: Lower estrogen can contribute to urinary symptoms and incontinence.

Is Later Menopause Healthier?

Menopause at 55 or older means longer exposure to estrogen and has been associated with some benefits, including better bone and cardiovascular health.

But the picture is not straightforward. Longer estrogen exposure has also been linked to a higher risk of breast, endometrial and ovarian cancers. So, later menopause should not automatically be considered healthier.

Can HRT Delay Menopause?

No. Hormone replacement therapy treats menopause symptoms but does not stop or postpone menopause.

It can help with hot flashes, sleep problems and vaginal dryness and may benefit some women at risk of bone loss. HRT can contain estrogen alone or estrogen with progesterone.

Its risks and benefits depend on factors such as age, timing, formulation, dose and duration. For appropriate women, the benefit-risk balance is generally more favorable when treatment begins before age 60 or within 10 years of menopause.

Can lifestyle delay menopause?

Genetics play a major role in determining when menopause occurs, and there is no lifestyle change proven to reliably postpone it.

Some factors have been linked with later menopause or a lower risk of early menopause:

• Breastfeeding: Longer breastfeeding has been associated with a lower risk of early menopause.
• Exercise: Supports overall health, although evidence that it directly delays menopause is limited.
• Not smoking: Smoking is linked to earlier menopause.
• Healthy diet: Some research links diets rich in antioxidants and omega-3 fatty acids with later menopause.

These habits cannot guarantee a later menopause but can support overall health through midlife.

For now, treatments specifically designed to delay natural menopause remain experimental. There is no established method that can reliably and safely postpone menopause in healthy women.

The suspected plague situation in Russia has reportedly claimed another life, fueling fears of a potential outbreak. However, Russia has not confirmed that either death was caused by plague, and investigations into the cases are ongoing.

India, which has witnessed plague outbreaks in the past, including the 1994 Surat outbreak and a pneumonic plague outbreak in Himachal Pradesh in 2002, also has rodent populations that can serve as reservoirs for plague. But does the situation in Russia pose a risk to India if plague is eventually confirmed?

To understand the potential risk to India, HealthandMe spoke to two experts with experience investigating plague outbreaks in India.

Plague From Test-Tube Exposure?

Also read: Russia Plague Scare: Is Pneumonic Plague Deadlier Than Bubonic & Septicemic Plague?

The death of a 28-year-old laboratory worker in Russia’s Irkutsk region has raised concerns about possible plague exposure. Reports said she may have accidentally broken a test tube containing Yersinia pestis, the bacterium causing plague, while collecting samples. However, Russian authorities have not confirmed plague and said she died of pneumonia of unknown cause.

Dr NK Ganguly, former Director General of the Indian Council of Medical Research (ICMR) told HealthandMe that the case has not been established as plague and questioned whether a test-tube exposure could explain plague pneumonia.

“Actually, the case in Russia has not been proven to be plague. It has been reported as a case of unknown cause and undiagnosed pneumonia. They have been investigating plague among about 2,000 people in the vicinity, as well as among people in the laboratory. So, they have not confirmed it as a plague case. And from a test tube exposure, it is difficult to have plague pneumonia.”

Unconfirmed reports have also claimed another death linked to the same laboratory, but this has not been independently verified.

Dr Ganguly was one of the people who investigated the 1994 plague outbreak in Maharashtra’s Beed district.

Should India Be Concerned?

There is currently no indication that the situation in Russia poses a significant pandemic risk to India.

Dr Ganguly said there is no reason for India to be very concerned about the Russian situation, particularly because plague has not been confirmed.

“So from the Russian plague, there is no, we need not be very worried. Firstly, they have not reported it as plague. It might be plague, but they have not reported it as plague.”

The WHO has also assessed the risk to the wider population as low. WHO spokesperson Christian Lindmeier said the initial assessment based on available information put the risk at moderate to low for Irkutsk, low for Russia as a whole and very low for the WHO European Region.

How Does Plague Spread?

Plague is caused by the bacterium Yersinia pestis and is primarily associated with rodents and their fleas. It can occur in different forms, including bubonic, septicemic and pneumonic plague. Russia is suspected to have pneumonic plague.

Dr Amitabh Banerjee, who investigated the Himachal Pradesh plague outbreak in 2002, said plague does not typically spread rapidly from person to person.

“So it's not a very quick transmission, particularly person to person. But plague is a disease which cannot be eradicated because it is in wildlife, it is in rodents and all. So the only thing is hygiene and, with modern antibiotics, there should not be any panic,” he told HealthandMe.

Banerjee also noted that pneumonic plague can be severe, while bubonic plague does not typically spread easily from person to person.

“So pneumonic plague can be very deadly particularly pneumonic plague and that will be localized pandemic it is not possible because those persons will be very sick, they cannot move out or not and bubonic plague will not transmit very easily from person to person and both are treatable…”

How Should India Prepare?

While Dr Ganguly said there is no immediate reason for India to be worried about the Russian situation, he stressed the importance of continued surveillance of rodents and other animals, particularly where wildlife and human habitation overlap.

“So the main thing is that go on doing surveillance in the rats and other, in the vicinity of where the forest and the human habitat march. And whenever you find any activity, then take preventive precaution.”