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.

Kenyan-Mexican actress Lupita Nyong’o has revealed that her fibroids have returned after undergoing surgery in 2014 -- now doubling up to 50, raising awareness about the often-overlooked health condition in women.

Speaking at the Today show, the Oscar-winning star Nyong’o said that she was first diagnosed with fibroids, a noncancerous tumor -- about 30 in number -- in 2014.

The growths made of muscle and tissue were removed with myomectomy, the fibroid-removal surgery.

However, the fibroids came back after over a decade, with the largest being the size of an orange, Nyong’o said.

She noted that the doubled-up fibroids are causing her more pain, while her treatment options remain largely the same.

“The first time I got the fibroids taken out, they took out 23,” she said on the show. “And this time, I’ve been informed two years ago that I have over 50.”

“And I’m being faced with the same options,” she added. “Surgery or live with the pain.”

Even as she is contemplating her treatment options, the A Quiet Place: Day One star opened up about feeling left alone and scared for her reproductive health during the initial phase.

She is now speaking out and connecting with other women suffering like her. Nyong’o is also advocating and raising money for scientists to research less invasive and non-invasive treatment methods for fibroids.

I was told that fibroids were something women live with. In refuse to accept that. Millions of women are suffering in silence, and we deserve better answers, better care and better options," Nyong’o wrote in a post on Instagram.

What Are Fibroids

Uterine fibroids are noncancerous growths that form inside or on the uterus. They are very common, affecting an estimated 40 to 80 percent of people with a uterus between the ages of 30 and 50.

In some cases, fibroids do not cause any noticeable symptoms, which means many people may not realize they have them. However, when symptoms are present, they often include:

• Heavy menstrual bleeding or painful periods
• Longer or more frequent periods
• Pelvic pressure or pain
• Frequent urination or trouble urinating
• Growing stomach area
• Constipation
• Pain in the stomach area or lower back, or pain during sex

Obesity and a higher body mass index (BMI) are the most common risk factors that can increase the chances of developing fibroids. Others include family history, not having children, early onset of menstruation (getting your period at a young age), and late age of menopause.

How To Treat Fibroids? Can They Recur?

There are several tests that can be done to confirm fibroids and determine their size and location.

These tests can include ultrasonography, magnetic resonance imaging (MRI), computed tomography (CT) scan, hysteroscopy, and laparoscopy.

Myomectomy is a commonly used surgical procedure to remove fibroids. There are several types of myomectomy, and they are used depending on the location of the fibroids, their size, and number.

The types of myomectomy procedures include hysteroscopy, laparoscopy, laparotomy, hysterectomy, uterine fibroid embolization, and radiofrequency ablation (RFA).

Even after a successful myomectomy, new fibroids can still develop. The recurrence risk is more common among young adults (under age 40) with many fibroids. The risk is less among people near menopause or with few fibroids.

Visit your doctor if you have:

• Pelvic pain that doesn't go away
• Heavy or painful periods that limit what you can do
• Spotting or bleeding between periods
• Trouble emptying your bladder
• Ongoing tiredness and weakness, which can be symptoms of anemia, meaning a low level of red blood cells.

Sepsis that happened by a lick from a pet dog led to a woman losing all four of her limbs. Health and Me had previously reported that a Birmingham based woman, 56-year-old pharmacy worker Manjit Sangha caught sepsis from the lick of her pet dog. She spent her night in coma in the hospital and had to lose all her limbs. This happened because bacteria from dog's lick entered her body through a cut or a scratch. This led to sepsis, where the immune system's reaction to infection damaged the body's own tissues and organs.

This has brought a lot of attention on what sepsis is and what are the symptoms one must be aware of. As per the Sepsis Alliance, one must know about TIME to be aware of sepsis.

Unique Symptoms of Sepsis

TIME stands for temperature, infection, mental decline and extremely ill. If you notice these symptoms, rush to the hospital.

• T for Temperature: If you notice your body temperature rising or falling
• I for Infection: If you see signs or symptoms of any infection
• M for Mental Decline: If you feel confused, sleepy and difficult in rising
• E for Extremely Ill: If you feel severe pain, discomfort, shortness of breath

Unique Symptoms Of Sepsis: What To Know About Temperature

Your body temperature normally stays steady at about 98.6°F (37°C), with small changes based on activity, surroundings, and time of day. A reading of 100°F (37.7°C) or higher is considered a fever. During infection, the body often heats up to help fight germs. However, some people experience an unusual drop in temperature instead. Because of this, both a spike and a fall in temperature can be warning signs of sepsis.

Unique Symptoms of Sepsis: How To Know If You Have An Infection?

When an infection stays in one area, its symptoms usually match the site involved. A urinary tract infection may cause burning while urinating or frequent urges, pneumonia can bring cough and chest pain, and an infected cut may show redness or pus.

Read: Where You Get Your Rabies Shot Matters: Doctor Explains Why Rabies Vaccines Should Not Be Given In Buttocks

If the infection spreads through the body, broader symptoms like fever, tiredness, and body aches can appear. In some cases, an infection may not cause obvious symptoms at all. This is especially important to remember after surgery, medical procedures, skin injuries, or close contact with someone who is sick.

Unique Symptoms of Sepsis: What To Look Out For Mental Decline?

Sepsis can also alter how the brain functions. Some people, particularly older adults, may not develop the usual infection symptoms. Instead, they might suddenly become confused or show a sharp worsening of existing dementia. Marked drowsiness or unusual sleepiness is another common sign.

Unique Symptoms of Sepsis: Signs That You Are Extremely Ill

Many sepsis survivors recall feeling sicker than ever before. They describe overwhelming symptoms such as the most severe sore throat or abdominal pain they had experienced, along with a frightening sense that they might not survive.

Unique Symptoms Of Sepsis In Children

Unique Symptoms Of Sepsis In Adults

• High blood cell count
• Immature white blood cells in circulation
• Elevated plasma C-reactive protein
• Elevated procalctonin (PCT)
• Low blood pressue
• Low central venous or mixed venous oxygen saturation
• High cardiac index
• Low oxygen level
• Low urine output
• High creatinine in the blood
• Coagulation or clotting abnormalities
• Absent bowel sounds
• Low platelets in blood
• High bilirubin levels
• High lactate in blood
• Decreased capillary filling or mottling

Mounjaro, a popular weight loss drug that helped many lose weight, however, in this one case, a woman, who was on the same drug noticed something different. While she lost weight, she noticed that her breasts continued to grow. The 30-year-old Tianna Moon of East Anglia, a region in eastern England first realized something was not normal with her chest in 2024. This was when she started to use Mounjaro.

She was losing weight, but her breasts continued to grow. This is when Moon's doctor diagnosed her with a rare disease call gigantomastia, which causes breast tissue to grow rapidly and in excess.

Also Read: 15 States Sue Trump Administration Over Revised Vaccine Schedule

Woman Lost Weight On Mounjaro But Her Breasts Didn't Stop Growing: What Happened To Her?

Moon said that the doctors had thought that she had macromastia, a less severe, however, a similar condition. "But when I broke down medical history, the weight loss on Mounjaro and the increased growth and side effects, he was point-blank like, 'This is gigantomastia'," she said.

Moon also told that her breasts currently weight 39 lbs, which is approximately 20 per cent of her overall body weight.

Moon also said that while her large breasts are "normal" at this point in her life, she said the rare condition still comes with challenges.

"The side effects are having numb arms quite a lot and having quite severe indentations on my shoulders. I have some light scarring under my breasts where bras have rubbed and ripped the skin open."

She also said that laying on her back is something she cannot do for a long time, as it restricts the amount of airflow she can get in. She also said that when she goes out she tries to make her breasts look smaller than they are and strap them up. "I [still] get stares and double takes."

Also Read: Wegovy And Ozempic Will Cost Less In 2027, Novo Nordisk Slashes Weight Loss Drugs Prices By Half

Woman Lost Weight On Mounjaro But Her Breasts Didn't Stop Growing: What Is Gigantomastia?

As per Cleveland Clinic, it is a rare condition where your breasts become excessively large. It can also cause pain, infection, discomfort and issues with body image. It is also known as breast hypertrophy where one experiences rapid and disproportionate breast growth. The speed with which the breasts grow could vary depending on the person. It could take a few weeks to over several years. The tissue is almost never benign.

Gigantomastia is characterized by:

• Breasts that have an excess of at least 5 pounds of breast tissue.
• Extra breast tissue that equals more than 3% of your total body weight.

There are different types of gigastomastia:

• Juvenile gigantomastia: This type happens during puberty.
• Gestational gigantomastia: This is when gigantomastia occurs during pregnancy.
• Drug-induced gigantomastia (or medication-induced): This happens after taking certain drugs.
• Idiopathic gigantomastia: This is when the cause of gigantomastia is unknown or can't be determined. Idiopathic gigantomastia is the most common type.

Moon is now considering a breast reduction surgery. She has for now set up an account on OnlyFans. “I might as well try and reap the benefits of my medical condition rather than the negatives," she said.