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.

A heatwave is getting worse with each passing day, and with it come dehydration, stomach flu, and sometimes even mood swings. But little do people realise that the risks associated with a heatwave could be much worse - it turns out that exposure to extreme heat could also give you a stroke. Dr Deep Das, Consultant - Neurology, CK Birla Hospitals, CMRI, in an interview with Health and Me, decoded the link between heatwaves and the risk of stroke.

How does a heatwave affect stroke risk?

Dr Das said that in very high temperatures, the body does not always cope in predictable ways. The brain is particularly sensitive to these shifts. One of the concerns is stroke. In the heat, people tend to lose fluids without realising how much. Blood volume drops, and circulation is affected. In some cases, the blood becomes more prone to clotting. At the same time, blood pressure can fluctuate. This combination increases the chances of a disruption in blood flow to the brain.

Can extreme heat give you a seizure?

Seizures are another risk, especially in those who already have epilepsy. Even when the condition has been stable, heat can unsettle things. Dehydration and changes in electrolyte balance make the brain more reactive than usual. A person who has been well-controlled for months may still have an episode during a prolonged heatwave. What makes this difficult is that these changes are not always gradual. Symptoms can appear suddenly.

What are the symptoms of a stroke?

A stroke refers to a potentially fatal medical emergency. It can be sudden or gradual, and it is characterised by a blockage in blood circulation to the brain. It can result in rapidly dying brain cells and requires immediate medical attention. The symptoms of stroke can be identified as FAST:

1. Face: Face drooping on either side
2. Arms: Weakness in the arms or inability to move the arms
3. Speech: Slurred speech
4. Time: Time is an important factor; immediate action can be life-saving for stroke patients

Apart from this, other symptoms of a stroke are:

1. Severe, unusual headaches
2. Confusion
3. Loss of consciousness
4. Dizziness
5. Loss of balance
6. Inability to see clearly from one or both eyes

How to dodge a heatwave-related stroke?

In this weather, small precautions matter more than they seem. Some of the best ways to dodge a stroke amid a heatwave are:

1. Drinking water regularly helps, even before you feel thirsty
2. Staying indoors during peak afternoon hours reduces strain on the body
3. Living spaces need some form of airflow, even if it is basic ventilation

It also helps to keep an eye on people who may not notice these changes early—older adults, those living alone, or anyone with an existing medical condition.

Should you be worried?

Some people are more prone to stroke risk than others. Therefore, it is important to be aware of the risk factors, especially during a heatwave. If you are dealing with any of the following comorbidities, think twice before stepping out amid a worsening heatwave:

1. Hypertension
2. Diabetes
3. Irregular heartbeat
4. Sleep apnoea
5. High cholesterol

Furthermore, people who are 65 years and above must avoid stepping out from 12 noon to 4pm. Even people who have a family history of stroke must not step out during these hours.

Breast cancer remains one of the most common and fatal cancers among women worldwide, and early detection is proven to play a crucial role in improving outcomes. While mammography remains the most effective screening tool, knowing when to start and how often to get screened can be confusing.

The changing medical guidelines, as with the new screening guidelines from the American College of Physicians (ACP), can also leave women confused about when to start mammograms and how often to repeat them. HealthandMe spoke to experts to understand the correct timing.

So, What Do The ACP Guidelines Say?

The new guidance statement developed by ACP's Clinical Guidelines Committee urged mammography screening once every two years in asymptomatic, average-risk adult females, instead of the annual recommendation.

The ACP guidelines further state that all average-risk females ages 50 to 74 must undergo biennial mammography. It added that women aged 75 years or older with asymptomatic and average-risk can also discuss stopping routine screening with their doctor.

In sharp contrast, the United States Preventive Services Task Force (USPSTF) urges starting annual screening at age 40 to save lives.

What You Should Follow

“Some cancer societies like the American Cancer Society say biennial, while NCCN says annually. We prefer annually starting at age 40 till the woman is in good health, as biennial screening may delay early diagnosis in some cases,” Dr. Ashwani Kumar Sharma, Vice Chairman - Manipal Comprehensive Cancer Centre and Onco Robotic Surgeries, Manipal Hospitals, Gurugram, told HealthandMe.

NCCN, or the National Comprehensive Cancer Network, is an alliance of 34 cancer centers in the US.

Dr. Sharma added that a practical and balanced approach would be to do biennial mammography from 40 to 50 years of age and annual mammography after 50 years of age for maximum benefit.

What Are Mammograms?

A mammogram is a low-dose X-ray that captures detailed images of breast tissue, capable of identifying cancers before any physical symptoms appear.

In women with a BRCA1 or BRCA2 gene mutation who are referred to as "high risk" or with a history of radiation to the chest between ages 10 and 30, screening may start as early as age 30 and include annual breast MRIs alongside mammograms.

Mammograms: What Do India’s Guidelines Say?

Breast cancer in India is usually diagnosed at an advanced stage due to poor health awareness. But of late, there has been an increase in awareness, and more and more women are reporting in their earlier stages with a breast lump.

“Sometimes even this is too late. Breast cancer screening would help us diagnose this disease at an even earlier stage to help increase the chances of a cure from this deadly but treatable disease with the help of simple tests,” Dr Abhijit Kotabagi, Senior Consultant, Department of Surgical Oncology, Yatharth Hospital, Noida, told HealthandMe.

“I would endorse screening and women’s health awareness in our Indian population for women above 40 years after discussion of the pros and cons of screening with a clinician,” he added.

The Indian Council of Medical Research (ICMR) and other health organizations recommend the following guidelines:

1. Women Aged 30-40 Years

• Clinical Breast Examination (CBE) every 1-3 years by a doctor.
• Self-Breast Examination (SBE) every month to check for lumps or changes.

2. Women Aged 40-50 Years

• Annual Clinical Breast Examination (CBE).
• Mammogram (X-ray of the breast) every 2 years if advised by a doctor.

3. Women Above 50 Years

• Mammogram every 2 years (or as recommended by a doctor).
• Continue monthly self-exams and yearly clinical exams.

India is in the peak of summer, with heatwave conditions affecting several parts of the country. The India Meteorological Department (IMD) has predicted that these extreme heat conditions will continue over the next few days, especially across North and Central India.

According to IMD's latest bulletin, heat wave conditions are likely in isolated pockets of Bihar, Haryana-Chandigarh-Delhi, Punjab, East Rajasthan, Vidarbha, Chhattisgarh, and Jharkhand.

The IMD has also forecast a yellow alert for heatwave conditions at isolated places in Delhi from today, with maximum temperatures expected to climb between 41 °C and 44 °C through April 24. The state government has issued guidelines for all schools, focusing on hydration and safety measures.

As temperatures rise, health experts highlighted the disproportionate burden of heat on women and the related physical, social, and financial effects. Studies show women often have higher heat-related mortality rates and suffer from increased fatigue, dehydration, and reproductive health issues.

Women typically face higher risks during heatwaves than men due to

• physiological factors (higher body fat, lower sweat rate),
• hormonal changes (menopause, pregnancy),
• social roles.

How Heatwaves Affect Women Differently

Heat stress is known to interfere with the endocrine system, which disrupts hormonal balance. This means that severe heat can cause delay or interrupt menstrual cycles, causing heavier or more painful periods, and, in severe cases, absence of menstruation. Women with conditions like PCOS or endometriosis face compounded stress.

"Many women report feeling unusually tired, irritable, or drained during heat waves, and hormones can play a role," Dr. Tripti Raheja, Director - Obstetrics & Gynecology at the CK Birla Hospital (R), Delhi, told HealthandMe.

Women are more likely to feel this during certain hormonal phases, such as menstruation, PMS, pregnancy, perimenopause, or menopause.

“Women’s core temperatures rise after ovulation. That, combined with a higher surface area-to-mass ratio, means they absorb heat more quickly,” Mike Tipton, professor and leading expert in applied physiology at the University of Portsmouth, was quoted as saying to Thisdaylive.com.

Women in perimenopause or menopause may experience hot flashes, night sweats, and sleep disturbances, making heat waves exhausting.

Also read:Heatwave Hassles: What Body Odour Could Say About Your Health

Iron deficiency or heavy bleeding can also lower energy levels, and extreme heat may worsen weakness.

Pregnant women naturally have higher metabolic demands, so dehydration and fatigue can set in faster.

Without sufficient hydration, blood flow to the placenta might be reduced, potentially harming the baby. Heat exhaustion in pregnancy can cause early labor or stillbirth. Thyroid disorders and PCOS can also contribute to fatigue and reduced overall energy levels, Dr. Raheja said.

"Long exposure to high temperatures can disrupt the balance between hormones such as estrogen, progesterone, and thyroid hormones, which regulate energy, mood, and metabolism," Dr. Sakshi Goel, Senior Consultant Obstetrics & Gynecology at Rainbow Children's Hospital, Delhi, told HealthandMe.

Dehydration further worsens this by affecting circulation and temperature control, leading to exhaustion, headaches, and dizziness.

Moreover, sleep disturbances from hot nights can impair melatonin production and disrupt overall hormonal rhythms. This leads to poor recovery and low energy the next day.

How Women Can Protect Their Health From Heatwaves

Read: Excessive Energy Drinks Damaging Young Adults’ Livers, Experts Warn

Understanding how heat affects hormonal health lets women take steps to manage fatigue and maintain overall well-being during extreme weather.

To cope better, the experts suggested prioritizing hydration and including ORS when needed.

Dr. Goel noted that even mild fluid loss can hurt circulation and lower the body’s ability to regulate temperature. This can lead to exhaustion, headaches, and dizziness. Other preventive measures include:

• Avoiding long sun exposure during peak hours.
• Eating lighter, balanced meals and avoid stepping out during peak afternoon heat.
• Wearing breathable clothing and ensure adequate sleep in a cool environment.
• Gentle movements, such as walking or stretching, can improve circulation and mood.
• If fatigue is severe, persistent, or associated with dizziness, palpitations, irregular periods, or excessive weakness, it is important to seek medical evaluation rather than dismissing it as just the weather.