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.

Most women who've had preeclampsia remember it as something that happened during pregnancy. The blood pressure spiked, doctors kept a close watch, the baby arrived, and everything went back to normal.

Case closed, or so it seems. But there's a quieter part of this story that doesn't get told nearly enough - what preeclampsia might mean for a woman's heart years down the line.

So, What Is Preeclampsia?

It's a condition that can happen after the 20th week of pregnancy, when blood pressure rises sharply and starts putting pressure on organs like the kidneys or liver. During preeclampsia, the lining of blood vessels - the endothelium - becomes inflamed and doesn't relax and dilate the way it normally should.

This is the same vessel dysfunction we see in the early stages of coronary artery disease, just decades ahead of schedule. Doctors usually catch it through routine checks - protein in the urine, sudden swelling, or blood pressure readings that don't sit right.

Once the baby is delivered, blood pressure almost always comes back down. That "return to normal," though, doesn't mean the story is over.

Also read: Vitamin D & Pregnancy: Could Vitamin D Deficiency Increase Risk Of Premature Birth?

A Pregnancy Complication with a Long Impact on Heart

Think of preeclampsia as an early stress test that the heart didn't quite pass. It is associated with increased risk of hypertension in future and also increase the risk of heart failure, stroke and cardiovascular diseases. And this isn’t a risk that shows up only in old age, in some cases, death happens within the first 10 years after pregnancy.

The risk of heart failure also increases by four-fold and the risk of coronary heart disease by two folds in patients with preeclampsia. The risk of ischemic heart disease and hypertension is elevated too. The risk increases further if preeclampsia occurred early in pregnancy, during multiple pregnancies, or alongside other factors like obesity or a family history of heart disease.

It highlights the importance of life law monitoring of cardiovascular rest factors in a woman who has history of preeclampsia.

Also read: PMOS Isn't Just About Periods Or Pregnancy: Why Women Need To Think Beyond Fertility

The Part of Care That Often Gets Skipped

Once the baby is here, attention naturally shifts entirely toward the newborn - and a new mother's own follow-ups tend to fall away quietly, usually right after that standard six-week check. That's the gap, we need to close in postpartum care. Women with a preeclampsia history should regularly monitor their blood pressure, cholesterol and blood sugar, and actually bring these numbers up during the consultation.

None of this means preeclampsia guarantees heart disease down the road. It just means the risk picture has shifted, and that's worth knowing. Staying active, eating well, keeping weight in check, and staying away from smoking helps reduce the risk.

More obstetricians and cardiologists are starting to treat preeclampsia as something to track for life, not just for nine months. That shift in thinking could end up protecting a lot of hearts long after the pregnancy itself is over.

By Dr Waseem Farooqui, Consultant, Interventional Cardiology, Cardiac Care, Medanta Hospitals, Noida

After a brain bleed, controlling blood pressure is crucial—but is it enough to prevent another stroke? Neurologists explain why consistent BP monitoring, regular medicines, lifestyle changes, and follow-ups matter after discharge. They also share warning signs families should never ignore and when sudden BP rises require urgent medical attention.

Is Blood Pressure Control Enough After A Brain Bleed?

Dr Shubha Subramanian - Senior Consultant - Neurology - Kauvery Hospital, Vadapalani, Chennai told Health and Me, "After a brain bleed, controlling BP is extremely important, but this is only for spontaneous intracerebral haemorrhage, not in cases of an AV malformation, an aneurysm-related bleed, or a traumatic bleed, where the aetiology is different." He added, "In case of idiopathic spontaneous intracerebral haemorrhage, probably because of BP fluctuations or high BP, in that case, for secondary prevention, there will be a reduced number of bleeds if the BP is well controlled. Consistent control is very, very important."

After a brain bleed, patients should regularly monitor blood pressure and pulse, with diabetics also checking blood sugar at home. Periodic blood tests and ECGs may be advised. Families should watch for confusion, seizures, weakness, changes in speech, or facial drooping. Recognising these warning signs early and maintaining consistent BP control can help prevent another bleed.

The Common Mistakes That Can Raise The Risk

"Common mistakes include missing medications, not monitoring blood pressure regularly, stopping follow-up visits when they are feeling better, smoking and consuming too much alcohol, and returning too soon to strenuous activity," said Dr. Soniya Tambe, Consultant, Neurology, Fortis Hospital, Bannarghetta Road, Bengaluru. She added, "Patients also may ignore symptoms such as severe headache, weakness, speech difficulty, or vision changes. These signs should never be dismissed."

What To Eat And Avoid During Recovery

Recovery after a brain bleed doesn’t stop when a patient leaves the hospital. The steps taken at home are equally important in reducing the risk of another stroke. Along with taking medicines as prescribed and keeping blood pressure under control, patients should focus on making healthy, long-term lifestyle changes rather than following temporary restrictions.

A balanced, low-salt diet can support recovery, while smoking and alcohol should be avoided. Patients should ease back into physical activity gradually and only with their doctor’s advice, especially in the early recovery period. Getting enough sleep, maintaining a healthy weight, and managing stress are also important. Regular follow-ups help monitor blood pressure and other heart-related risk factors.

Warning Signs Families Should Never Ignore

Dr. Praveen Chander, Senior Consultant Neurology, Gleneagles Chennai, told Health and Me, "Families should also recognise sudden weakness or numbness, difficulty speaking, confusion, loss of balance, severe headache, or sudden vision changes as possible warning signs. These symptoms require immediate medical attention rather than waiting for them to settle."

Alcohol use among US adults has declined for the first time since the COVID-19 pandemic began, driven largely by Gen Z and millennials, a new study found.

However, alcohol use remains above pre-pandemic levels, according to the findings published in the Annals of Internal Medicine.

"It’s encouraging to see alcohol use decline for the first time since the start of the pandemic,” said Brian P. Lee, a hepatologist and liver transplant specialist with Keck Medicine at the University of Southern California and principal investigator of the study.

“However, use remains above pre-pandemic levels and certain groups continue to have concerning trends," he added.

What Did The Study Find?

Researchers analyzed National Health Interview Survey data from 114,352 US adults between 2018 and 2024.

Heavy drinking was defined as five or more drinks per day or 15 or more drinks per week for men, and four or more drinks per day or eight or more per week for women, in the 12 months before the survey.

From 2022 to 2024, any alcohol use fell by nearly 2%, while heavy drinking declined by more than 8%.

Researchers said this was the first confirmed reduction in alcohol consumption since the pandemic began, following increases in drinking reported in previous studies.

Gen Z, Millennials Cut Back As Older Adults Drink More

The biggest decline in any alcohol use was among Gen Z adults, whose consumption fell by more than 5%.

Millennials recorded the largest drop in heavy drinking, at 17% between 2022 and 2024.

The study did not examine why younger adults reduced their drinking, though researchers noted that changing social attitudes toward alcohol may be one explanation.

In contrast, alcohol use increased among adults aged 50-64. From 2018 to 2024, any alcohol use in this group rose by nearly 4%, while heavy drinking increased by more than 36%.

According to Lee, the increase is particularly concerning because older adults face higher risks of alcohol-related conditions, including liver disease, certain cancers and cardiovascular disease.

"Heavy drinking among ages 50-64 is up by more than a third since 2018, a concerning trend because this age group faces some of the greatest risks of harm from alcohol, including cirrhosis and alcohol-related cancers,” Lee said.

Men saw a larger decline in any alcohol use than women, 2.4% versus 1.1%. However, heavy alcohol use fell more among women than men, 9% versus 7.7%.

Lee noted that understanding differences in drinking patterns could help develop more effective prevention and treatment strategies.

Does Drinking Less Reverse Alcohol-Related Harm?

Excessive alcohol consumption is one of the leading preventable causes of illness and death in the US, according to the Centers for Disease Control and Prevention.

Alcohol accounts for approximately half of all liver-related deaths, while alcohol-associated cirrhosis has become the leading cause of liver transplants, according to Lee.

The World Health Organization says health risks begin with the first drop of alcohol, meaning no level of consumption is completely safe or risk-free.

Although the decline in alcohol use is a positive development, "we cannot assume alcohol-related harms will decline automatically,” said Lee. “Continued attention to screening, prevention and treatment will be critical, particularly among groups where alcohol use remains elevated.”