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.

In today’s fast-paced, wellness-driven world, looking fit does not always translate to being reproductively healthy. Currently, even fit and active individuals are facing fertility challenges due to hidden hormonal and metabolic imbalances. Hence, it is necessary to focus on reproductive health. Dr. Meenu Handa, Director of Fertility & Head Academic of Reproductive Medicine, Motherhood Hospitals, Gurgaon, decoded the link and listed some of the common fertility issues that most people overlook.

Now, a large number of people are opting for various activities such as yoga, Zumba, Pilates, the gym, and kickboxing to stay fit. Those who are health-conscious are also maintaining an optimum weight with a proper diet. These habits, in turn, can help to ensure good fertility. Shockingly, many people who are perfectly fit and fine on the outside may also struggle with fertility problems. Yes, that is right! This is also a common occurrence nowadays. Couples are panicking as they seem to adhere to a well-balanced lifestyle but still fail to conceive. So, this can be referred to as “invisible fertility issues," where underlying hormonal or metabolic imbalances silently affect reproductive health.

Decoding invisible fertility issues

Dr Handa said that many men and women who exercise regularly may suffer from issues such as hormone imbalance, fluctuating insulin levels, poor thyroid function, and compromised reproductive organ health. Conditions like polycystic ovary syndrome (PCOS), thyroid disorders, insulin resistance, and even chronic stress can exist without obvious physical signs and can take a toll on fertility. The expert also shared some of the common hidden infertility issues.

Even couples who are physically fit today often deal with high mental stress due to demanding jobs and poor work-life balance. This ongoing stress can quietly disturb hormonal balance in the body. Increased cortisol levels may affect ovulation in women and sperm production in men and, over time, can impact egg and sperm quality—making natural conception more difficult. That is why managing stress is just as important as staying physically fit when planning a pregnancy.

Women may have issues like poor ovulation, compromised egg quality, or hormonal imbalance, even if their menses tend to be regular. In some cases, even subtle symptoms like fatigue, acne, hair fall, or mood swings may be overlooked but can signal deeper hormonal concerns. Men can struggle with low sperm count, which can affect their fertility. Even insufficient sleep, excessive exercise, or extreme dieting can increase the chances of hormonal imbalance and fertility issues. It is necessary to consult an expert and seek timely help. Pollution and lifestyle stress also contribute to the trend.

Couples should not just plan a pregnancy because they are fit and exercise daily. Pregnancy should not rely only on outward fitness as a sign of reproductive health. Regular health check-ups, including hormone tests and fertility assessments, can help identify hidden issues early.

Follow these tips

1. Couples should eat a well-balanced diet, exercise daily, stay stress-free by practicing yoga and meditation, and get enough rest.
2. It is also imperative to maintain blood pressure and blood sugar levels within the recommended range, include healthy fats and proteins in the diet, avoid overtraining, and manage stress through relaxation techniques like yoga or meditation, which can support hormonal balance.
3. If a couple is unable to conceive even after 6–12 months of trying (depending on age), a detailed fertility evaluation is recommended.
4. Seeking timely medical advice is equally important if conception is delayed.
5. Couples who find it challenging to conceive may be advised to use ARTs, such as in vitro fertilisation (IVF).

So, awareness, balanced lifestyle choices, and timely medical support can make a huge difference in improving fertility outcomes.

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.