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.

Six unvaccinated people, including children, have died from measles in the US this year. As of October 8, the country had reported 4,080 confirmed cases, according to the Centers for Disease Control and Prevention (CDC).

Measles spreads easily through the air and can remain infectious for up to two hours. Symptoms include high fever, cough, runny nose, red, watery eyes, and a rash that typically starts on the face. Infected people can spread the virus before the rash appears.

Two doses of the measles, mumps, and rubella (MMR) vaccine are approximately 97% effective against measles and remain the best protection against the disease and its complications.

Measles Can Cause Complications Years Later

Also read: Sixth Measles-Associated Death Reported In Pennsylvania As Cases Cross 1,100

Measles also causes pneumonia, brain inflammation, and death. Some complications emerge weeks or years after the initial infection.

Three serious consequences are acute disseminated encephalomyelitis (ADEM), immune amnesia, and subacute sclerosing panencephalitis (SSPE).

According to the CDC, one to three out of every 1,000 children with measles die from respiratory and neurological complications.

ADEM: When the Immune System Attacks the Brain

An 18-year-old from Mifflin County, Pennsylvania, died from acute disseminated encephalomyelitis (ADEM), reported as the state's fourth measles-associated death this year.

ADEM causes inflammation in the brain and spinal cord when the immune system mistakenly attacks nervous system tissue. It can develop weeks after infections such as measles or influenza.

Symptoms include weakness, confusion, vision problems, and seizures. Severe cases can be fatal.

ADEM occurs in approximately one out of every 1,000 measles cases. Treatment may include steroids, intravenous immunoglobulin, and plasma exchange.

Most patients recover, but lasting problems can include motor weakness, cognitive impairment, seizures, and vision loss. In a 2022 study of 77 children with moderate to severe ADEM, nearly a quarter had persistent health issues.

Immune Amnesia: Measles Can Erase Immune Memory

Read More: Measles Cases Are Rising in US—Who Should Get A Booster Shot?

Measles can destroy immune cells that remember previously encountered pathogens, weakening protection built through past infections and vaccinations. This is known as immune amnesia.

“Immune amnesia basically destroys your immune system,” said Dr. Stephen J. Elledge, professor of genetics and medicine at Harvard Medical School. “It infects and kills the cells that store immune memories — plasma cells, B cells, and T cells. It’s like burning down a library full of immunological knowledge.”

A 2019 study published in Science, co-authored by Elledge, found that measles could erase up to 73% of a person's antibody repertoire.

This loss can leave people vulnerable to infections their immune systems had previously learned to fight. Research published in 2015 suggested that rebuilding immune protection can take two to three years.

SSPE: A Fatal Disease That Can Emerge Years Later

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive neurological disease caused by a persistent measles virus infection in the central nervous system.

SSPE is "the most enigmatic and terrifying consequence of measles", Andrew Pavia, MD, a pediatric infectious disease epidemiologist at the University of Utah, told CIDRAP News.

Symptoms may appear seven to 10 years after measles, even in people who initially recover. Early signs include personality changes, mood swings, and headaches. The disease can progress to involuntary movements, seizures, vision loss, cognitive decline, coma, and death.

There is no known cure, and SSPE is ultimately fatal.

Infants Face a Higher SSPE Risk

Children who contract measles during infancy face a particularly high risk of SSPE.

The CDC estimated that seven to 11 out of every 100,000 people infected during the US measles resurgence of 1989–1991 were at risk of developing the disease.

A 2016 review of California health records estimated that SSPE occurred in approximately one out of every 609 children who contracted measles before 12 months of age.

A child in Los Angeles died of SSPE last year after contracting measles as an infant, before becoming eligible for the MMR vaccine. In the United States, the first dose is generally recommended at 12 to 15 months.

With measles cases continuing to rise, Pavia warned that SSPE "is a potential time bomb."

The increasing popularity of GLP-1 medications is making its way onto college campuses, where young women face growing pressure to meet ideals of thinness and beauty.

Media reports suggest that the use of GLP-1 drugs, including semaglutide (Ozempic and Wegovy) and tirzepatide (Mounjaro and Zepbound), is rising among young women, including those with normal BMIs, seeking to achieve a thinner appearance.

Originally developed to treat type 2 diabetes, with some also approved for weight management, these medications can be highly effective but require a prescription and appropriate medical monitoring. Using them without a medical indication may expose people to unnecessary health risks, an expert warned.

Jay Campbell, a longevity and peptide expert and bestselling author, said

that while these drugs were developed to address metabolic conditions, they have been “hijacked as a cosmetic shortcut.”

“For someone who's metabolically dysregulated, they are a genuine medical intervention,” he told Fox News Digital. “But to a 20-year-old sorority member with a normal BMI, they look like an aesthetic hack in a syringe.”

GLP-1 Drugs Gain Attention Among College Girls

Also read: GLP-1 Drugs Ozempic, Zepbound Use Rises 24-Fold Among American Women After Childbirth

A 2024 analysis published in JAMA found that 162,439 young adults ages 18 to 25 received at least one dispensed GLP-1 prescription in 2023.

Women accounted for 76.4% of these patients, although the analysis included medications prescribed for both diabetes and weight management.

Separately, the 2025 Monitoring the Future survey found that 2% of students in grades 8, 10 and 12 reported using a prescription GLP-1 medication, while another 2% said they had used one without a prescription.

Sororities can amplify pressure to maintain a certain appearance, with social media and comparisons among members potentially encouraging interest in GLP-1 drugs. Campbell said rapid, visible weight loss can quickly become a talking point within sorority houses, prompting other young women to consider the drugs as a shortcut to achieving a thinner look, including those with normal BMIs.

Risks of Using GLP-1 Drugs for Cosmetic Weight Loss

College-aged women may already be vulnerable to body-image pressures, Campbell noted, and social media can intensify those concerns.

GLP-1 medications can offer substantial benefits to eligible patients. In clinical studies of people taking these medications for obesity, fat mass generally accounts for more of the weight lost than lean mass, Campbell pointed out.

“The peptide isn't catabolic by itself – the real risk is that a healthy 20-year-old who isn't obese has far less metabolic and muscular reserve to lose from in the first place.”

When a young woman loses weight rapidly without consuming enough protein or doing resistance training, she may lose a greater proportion of lean mass, Campbell warned. Rapid weight loss can also contribute to facial and body changes sometimes referred to as “Ozempic face” and “Ozempic body.”

Read More: WHO Cautions Against GLP-1s As First-Line Treatment For Childhood Obesity, Prioritises Lifestyle Changes

5 Things To Know Before Using GLP-1 Drugs

1. Check if you need them: Consult a doctor to determine whether GLP-1 treatment is medically appropriate.
2. Protect muscle mass: Eat enough protein and include resistance training to help preserve muscle during weight loss.
3. Understand pregnancy risks: Semaglutide labeling advises stopping Wegovy at least two months before a planned pregnancy. Tirzepatide can reduce oral contraceptive effectiveness for four weeks after starting treatment and after each dose increase.
4. Monitor mental health: Discuss any history of eating disorders, anxiety or depression with your prescriber and report worsening symptoms.
5. Consider long-term safety: Discuss potential risks, side effects and ongoing monitoring with a qualified doctor before starting treatment.

An unexplained blood clot could sometimes be the first warning sign of underlying cancer. In such cases, doctors investigate beyond the immediate causes of thrombosis.

While blood clots are mostly caused after surgery, prolonged immobility and other risk factors, a clot that develops without a known trigger may need a closer look, especially in older adults or patients with other certain concerning symptoms.

On World Thrombosis Day, observed on October 13, experts talk about the importance of recognising unusual clotting patterns and investigating underlying conditions without subjecting every patient to unnecessary tests.

“Sometimes an unexplained blood clot is the first clinical sign of an underlying cancer,” Dr Rahul Bhargava, Principal Director and Chief of Hematology, Hemato Oncology and Bone Marrow Transplant at Fortis Memorial Research Institute (FMRI), Gurugram told HealthandMe.

Can Cancer Trigger Blood Clots?

Cancer can interfere with the body's normal clotting mechanisms. Dr Bhargava explained, “Some tumors are able to activate the body’s clotting system by releasing substances such as tissue factor, which stimulates the production of thrombin and fibrin, the proteins involved in clot formation.”

He added that inflammation related to cancer and changes to blood vessels contribute to hypercoagulability, a condition in which the blood has an increased tendency to clot. In some patients, a tumour may also compress blood vessels, slowing blood flow. Cancer treatments, including surgery and certain chemotherapy drugs, can further increase the risk.

Dr Narendra Agrawal, Senior Consultant and Unit Head of Haemato-Oncology at Rajiv Gandhi Cancer Institute and Research Centre, explained to us that the body's natural anticoagulants help maintain blood in a liquid state. When these protective mechanisms are deficient, whether due to congenital mutations or other reasons, the risk of clotting can increase.

“When cancer is present in the body, it acts as a major driver of abnormal clotting within the vessels, making an unprovoked clot a critical clinical indicator that a malignancy may be forming,” he said.

However, an unexplained clot does not necessarily mean a person has cancer. Doctors must evaluate the patient's symptoms, medical history and other risk factors before deciding whether investigations are warranted.

Also read: Menopause Abruptly Shifts Bones, Liver And Blood Fats, Study Finds

Key Warning Signs

The absence of a clear trigger is a red flag that should not be ignored. Doctors typically look for common causes like recent surgery, trauma, prolonged immobility or long-distance travel before investigating other possibilities.

Dr Bhargava said concern increases when thrombosis occurs without an identifiable cause, particularly in older adults, or when a clot recurs despite adequate treatment. Other warning signs include unexplained weight loss, chronic fatigue, poor appetite, bleeding and changes in bowel movements.

“There is no particular symptom which will allow to distinguish cancer-associated thrombosis from others,” he cautioned, emphasising the need for a comprehensive clinical assessment rather than assuming that every unexplained clot indicates malignancy.

Dr Agrawal also highlighted specific findings that may prompt further investigation. “We suspect an underlying cancer when we encounter specific red flags,” he said, referring to unprovoked clots in older patients and physical findings like lumps, non-healing ulcers, recurring abdominal pain or blood in the stool.

Abnormal blood counts can provide additional clues. Changes in haemoglobin, white blood cell counts or platelet levels may lead doctors to investigate possible blood-related cancers or other underlying conditions.

Also read: 'Humanity Can Still Act': Lancet Warns Of 17 Global Health Threats By 2100

Cancers Linked With Unexplained Blood Clots

Certain cancers come with a greater risk of venous thromboembolism, which includes deep vein thrombosis (DVT) and pulmonary embolism (PE).

“Certain cancers that predispose one to venous thromboembolism include pancreatic, lung, stomach, colorectal and ovarian cancers. Others include some forms of blood cancers,” Dr Bhargava said.

He explained that the risk varies according to the type and stage of cancer and the treatment involved. In some patients, an unprovoked clot may develop before the cancer itself is diagnosed.

The location of the clot can also influence how symptoms appear. DVT commonly affects the deep veins of the legs, causing swelling, pain and tenderness. When a clot travels to the lungs and causes a pulmonary embolism, symptoms may include chest pain and breathlessness.

Dr Agrawal said that clots in abdominal veins may cause abdominal pain, liver dysfunction, an enlarged spleen or intestinal bleeding. Clots affecting blood vessels in the brain or central nervous system may produce neurological symptoms, including paralysis. However, the location of a clot alone cannot prove if cancer is present.

Also read: High BP in Pregnancy Linked to 42,000 Maternal Deaths, 500,000+ Stillbirths, Newborn Deaths: WHO

What Investigations Are Recommended?

Doctors generally begin with a detailed medical history, physical examination and blood tests. These may include a complete blood count and assessments of kidney and liver function. Further testing depends on the clinical findings. Imaging or endoscopy may be recommended when symptoms, examination findings or blood abnormalities raise suspicion of an underlying malignancy.

Dr Bhargava cautioned against automatically subjecting every patient with unexplained thrombosis to extensive testing. “It is not always necessary to perform extensive imaging of the whole body or tumour marker testing in every patient with a clot that is unexplained and does not have any other worrying signs,” he said.

The aim is to identify cancers that warrant further investigation while avoiding unnecessary radiation exposure and incidental findings.

Dr Agrawal said doctors may use CT scans to look for hidden tumours, with MRI or PET scans considered for specific cancer evaluations. The extent of testing depends on factors such as the patient's age, clinical presentation, blood counts and physical examination findings.

When a patient has both cancer and thrombosis, doctors must manage the clot while navigating cancer treatment and the patient's risk of bleeding. “Anticoagulants are usually administered to prevent the expansion of the existing clot and the occurrence of other clots,” Dr Bhargava said.

The choice of medication, including a direct oral anticoagulant or low molecular weight heparin, depends on the patient's condition. Factors include kidney function, the possibility of gastrointestinal or urinary bleeding, drug interactions and the type of cancer treatment being administered.

Dr Bhargava explained that doctors must also consider platelet counts, planned or recent surgery, chemotherapy-related complications and active bleeding. The duration of anticoagulation is individualised and may extend beyond three to six months while the cancer and its treatment continue to pose a risk.