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.

Changing lifestyles, career priorities, financial planning, and personal choices are leading many couples to marry later than before. While late marriages are becoming increasingly common, fertility specialists are observing a parallel rise in delayed pregnancy planning and age-related fertility complications. Many couples now begin trying to conceive only after the age of 35, when fertility in both men and women naturally starts declining.

Currently, there is a growing trend of late marriages due to career priorities, financial stability goals, higher education, and changing lifestyle choices. Many couples are choosing to settle professionally and personally before planning a family. However, this delay can also lead to postponed pregnancy planning, often at a stage when fertility naturally starts declining. Increasing stress, underlying medical conditions, and lack of fertility awareness are further contributing to challenges in conception among couples in their mid to late thirties.

What are the complications that can occur in a pregnancy after turning 35?

“The increasing trend of late marriages (30–35+) is directly leading to delayed pregnancy planning. Most couples start trying to conceive after 35, when fertility has already begun to decline significantly. By the time many patients seek medical help between 36 and 39 years, several are diagnosed with low ovarian reserve (low AMH) or conditions such as oligoasthenoteratozoospermia (OAT) and azoospermia.

Lack of early fertility awareness often causes women to miss the window for timely intervention or fertility preservation options like egg freezing. Advanced maternal age pregnancies (40+) are steadily rising and are often associated with complex complications and lower treatment success rates. Currently, nearly 75% of fertility patients are above 35 years of age, while 25% are above 40. Only around 20% of patients are in their late 20s,” said Dr. Jyotshana Palgamkar, Fertility Specialist, Nova IVF Fertility, Virar.

Dr Jyotshna further added, “One of the biggest concerns linked to late pregnancy planning is reduced ovarian reserve in women. By the time many women seek medical help between the ages of 36 and 39, their anti-Müllerian hormone (AMH) levels, which indicate egg reserve, may already be low. This reduces the chances of natural conception and can also affect the success rates of fertility treatments. Male fertility is also being affected. A large number of men are diagnosed with oligoasthenoteratozoospermia (OAT), a condition in which sperm count, motility, and morphology are affected.

Consequences of delayed fertility evaluation

Delayed fertility evaluation often means that couples lose valuable time before beginning treatment or considering assisted reproductive options. Another major challenge is the lack of awareness about fertility preservation. Many women remain unaware that egg freezing at a younger age may help preserve fertility for the future. By the time they start exploring fertility options in their late thirties or forties, treatment becomes more complex and emotionally stressful. Advanced maternal age pregnancies, especially above 40, are also increasing. These pregnancies are often associated with lower conception rates, higher miscarriage risk, pregnancy complications, and reduced IVF success rates,” Dr Jyotshna explained.

Male fertility treatment options depend on the underlying cause of infertility and may include lifestyle changes, medications, hormonal therapy, or surgical procedures. “Conditions such as low sperm count, poor sperm motility, abnormal morphology, raised DNA fragmentation index (DFI) affecting sperm quality, varicocele, or azoospermia can often be managed with timely medical intervention. Assisted reproductive techniques like IUI, IVF, and ICSI are also commonly used to improve the chances of conception. Early diagnosis and proper fertility evaluation play an important role in selecting the most effective treatment option for men,” said Dr Palgamkar.

Understanding fertility timelines, seeking timely evaluation, and discussing preservation options early can help couples make informed decisions and improve their chances of successful parenthood in the future.

Back pain is generally considered a problem seen in old age, but of late, we are increasingly seeing younger adults suffering from back pain. Prolonged sitting hours, inadequate physical activity, smoking, and an unhealthy lifestyle have made back pain a common complaint even in people under 30 years of age.

What is a slipped disc?

In an interview with Health and Me, Dr Pramod Sudarshan, Spine Surgeon (ortho), Apollo Hospitals, Bangalore, said, “Most commonly, we attribute this pain to a slipped disc or other disc-related conditions. However, they are just one among many reasons causing back pain. A thorough understanding of the other conditions that can lead to back pain, and knowing the ‘red flags’ to help identify them, will assist in seeking early treatment and preventing further complications.”

Muscle strain is considered to be one of the most common reasons for developing back pain in younger individuals. Daily activities like travelling for long hours, lifting heavy weights without proper technique, and carrying heavy backpacks can lead to muscle strain. Often, the pain due to muscle strain comes down with the help of medications such as muscle relaxants and rest.

Poor posture and back pain

Working professionals and students spend many hours a day studying, gaming, and working on computers without maintaining proper posture, leading to excess strain on the back muscles and, in turn, prolonged back pain. Having a properly ergonomically designed workstation/study table setup can prevent back discomfort and stiffness.

What are the causes of back pain?

Lack of physical activity and associated conditions such as obesity weaken our core muscles, which are considered the main pillars supporting our spine. Weakened core muscles will not be able to perform the functions expected of them, leading to back pain. Regular exercise, weight management, a healthy diet, and guided weight training will help strengthen our core muscles and reduce the risk of back pain.

Other than muscles, the spine also contains small joints known as facet joints, irritation or inflammation of which can lead to back pain. A structure known as the pars interarticularis acts as a clamp in the spine, holding two adjacent vertebral bodies, and any defect, such as a congenital defect or fracture due to repetitive microtrauma, as seen in gymnasts, can lead to the slipping of one bone over the other, causing back pain.

Though mechanical back pain is most common, there are other conditions such as inflammatory arthropathy, tumours, and infections. Conditions such as ankylosing spondylitis, rheumatoid arthritis, and hyperuricemia/gout are some examples of inflammatory conditions in which an individual experiences early morning back pain associated with stiffness and may also present with pain in other joints.

Can tuberculosis lead to back pain?

Tuberculosis affecting the spine is considered the most common infection of the spine. Severe back pain, weight loss, loss of appetite, fever, and night sweats are some of the common symptoms. Other bacterial and fungal infections are also seen affecting the spine, most commonly in immunocompromised individuals.

Tumours, though rare in young individuals, warrant further investigation when symptoms such as severe weight loss, night pain, and prolonged back pain are present to rule out the possibility of tumours.

Other conditions such as scoliosis (congenital/adolescent idiopathic scoliosis), which is a three-dimensional deformity of the spine, can cause back pain. It requires further assessment in the form of radiological investigations to assess the degree of deformity and to plan any surgical intervention, if required, based on the severity of the curve.

What are the symptoms?

Identifying some of the red-flag signs, such as weakness in the legs, numbness around the groin, bladder or bowel dysfunction, fever, unexplained significant weight loss, or severe pain following major trauma, is essential. These symptoms may indicate serious underlying pathology requiring medical care.

Fortunately, back pain in young people is largely preventable. Basic lifestyle modifications such as regular exercise, maintaining proper posture, avoiding prolonged sitting, maintaining a healthy body weight, undertaking monitored weight-training programmes, following a healthy diet, and getting adequate sleep will help prevent as well as overcome existing back problems. Invest in your spinal health at the earliest opportunity to reap the benefits in the second half of life.

Researchers from the University of Oxford and pharmaceutical firm Moderna have developed a vaccine that may prevent bowel and ovarian cancer. The first trial is to be this summer, and it will try to see if the vaccine can train the immune system to recognize and eliminate pre-cancerous cells in people with Lynch syndrome before cancer develops.

In the United Kingdom, one in 300 people has Lynch syndrome, an inherited health condition that massively increases the chance of contracting cancers like bowel and ovarian cancer.

What Is Colorectal Cancer?

Colorectal cancer is the umbrella term for both colon and rectal cancer. As the name also suggests, colon cancers happen only in the colon, but if it is left untreated, it can spread to different organs in your body. Colorectal cancer begins inside the rectal tissues or the colon walls. It presents itself in the earliest stages as small masses, known as polyps. If a polyp becomes cancerous, it can spread cancer from the inner part of the colon to the lymph nodes or bloodstream. If this happens, cancer can then quickly move throughout the system.

Early Symptoms Of Colorectal Cancer

• Persistent changes in bowel habits, especially if they last more than a few days, must be taken seriously. Narrow or ribbon-shaped stools may indicate a tumor partially blocking the colon.
• Blood in the stool is one of the most common and concerning signs. While it might be due to hemorrhoids or fissures, it’s important not to assume. A proper evaluation is critical.
• Unexplained weight loss: Especially when unintentional.
• Abdominal cramps or bloating: Misinterpreted as common digestive issues.

What Is Ovarian Cancer?

Ovarian cancer is one of the deadliest gynecological cancers and is often referred to as the “silent killer” because its early symptoms are vague and easily mistaken for common digestive or urinary issues.

It develops when abnormal cells in the ovaries grow uncontrollably and may spread to other parts of the body. Survival rates are significantly higher when detected early—around 93 per cent of women diagnosed at stage one survive at least five years, compared to just 13 per cent at stage four, according to the American Cancer Society.

Unfortunately, many cases are diagnosed at advanced stages, when treatment options are limited, and outcomes are poorer.

• Early Symptoms Often Overlooked

“Ovarian cancer is commonly called a ‘silent disease’ because its early signs are vague and often resemble routine gastric issues,” Dr. Tejinder Kataria, Chairperson – Radiation Oncology, Medanta Hospital, Gurugram, told HealthandMe.

Common symptoms include:

• Persistent bloating
• Feeling full quickly or reduced appetite
• Pelvic or abdominal discomfort
• Unexplained constipation or diarrhea
• Ongoing indigestion
• Excessive gas
• Abdominal heaviness

Dr. Parminder Kaur, Consultant Gynaecologic Oncologist at CK Birla Hospital, Delhi, told HealthandMe that the key concern is when symptoms become frequent, persistent, and unusual for an individual’s normal health pattern.