This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)

On the first episode of season 8 (named “Twenty Vicodin”, and featuring an interesting guest in the cast!), House is in prison after crashing his car into Cuddy’s living room. One of the prisoners has a fever, joint pain and a rash on his thigh, and House convinces the prison’s doctor that he has lupus. Later, after the prisoner breaks his arm from a minor hit and doesn’t stop bleeding from a small cut, House listens to his chest and discovers an “acoustic shadow”, meaning there is a mass in his lungs. After drinking some coffee the prisoner develops a severe allergic reaction (anaphylaxis) which causes his airway to swell up and almost kills him. House then realizes that the reason for the reaction was the high temperature of the coffee and diagnoses him with mastocytosis

Photo by fox

Danger level: Medium

What is it?

Our immune system is composed of many types of cells and partןcles. Mast cells belong to the immune system and are involved mostly in allergic reactions. These cells produce substances that cause some of the allergy symptoms, the most famous of them is histamine. In systemic mastocytosis  the amount of these mast cells increases significantly, causing the disease.

This is how a mast cell looks. Photo by Ed Uthman

Who gets it?

Systemic mastocytosis is an extremely rare disease – so rare that it’s frequency in the population is not known. It’s a bit more common in men than women, and appears mostly in children, though it may happen to adults (and then the most common age is 55).

What causes it?

The disease develops when a mast cell starts dividing uncontrollably (like in cancer). Since the mast cells keep dividing, there are too many of them – and they can form a tumor, circulate in the blood or accumulate in organs. Also, substances that mast cells produce like histamine are released in larger amounts than usually. All these processes can cause symptoms.

How does it feel?

Symptoms can appear in any organ where mast cells accumulate. This can cause skin rashes, bone pain and problems with the liver, spleen or bone marrow.

Substances that are produced in mast cells and released in large amounts (like histamine) can cause itching, flushing and symptoms in the digestive system (for example: abdominal pain, diarrhea, peptic ulcers and problems with the absorption of food).

Another important symptom is severe allergic reactions (also called anaphylaxis) which can be dangerous and cause difficulty breathing or a very low blood pressure. The most severe allergic reaction in mastocytosis is to bee stings.

In some cases flushing and low blood pressure can develop in response to certain drugs against inflammation (like in the “aspirin test” at the end of the episode), and any symptom can be worsened by these drugs, alcohol or narcotics.

Mastocytosis in toddlers

How is it discovered?

The doctor can suspect mastocytosis based on the symptoms and blood work, but the only definitive test is a bone marrow biopsy, in which a bone sample is taken from the lower back. An important test which can support the diagnosis before performing the biopsy is measuring the levels of histamine in the blood or urine.

How is it treated?

There is no cure for mastocytosis. Treatment is aimed at reducing symptoms, and this is done mostly by different types of pills (for example, anti-histamines which are usually used for allergies).

What happens after treatment?

There are different types of mastocytosis which are dangerous in different levels. In some cases patients have the same life expectancy as the normal population, but in the more violent types (which are, luckily, more rare) patients survive for several months only.

The bottom line – how do I avoid it?

Unfortunately, there is no known way to avoid mastocytosis.

Related posts:

1. Sickle Cell Disease – When the Shape of Your Blood Cells Can Kill You (As Seen On House MD)
2. Astrocytoma (Butterfly Tumor)–A Brain Tumor That Spreads To Both Sides (As Seen On Grey’s Anatomy)
3. Pheochromocytoma – A Rare Tumor That Can Cause Hypertension (As Seen on House MD)

This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)

On episode 2 of season 7 (named “Selfish”), Della Carr collapses during indoor skating for a charity event for her brother’s disease – muscular dystrophy (which causes muscle weakness). Apparently she had an arrhythmia (problem with her heart rate). While the team prepares her for a test to see if she has a syndrome that causes arrhythmias, they find out she stopped producing urine, which means her kidneys are failing. Later she also starts to cough blood, and a lung biopsy finds she has a lung disease called LAM. She undergoes a lung transplant but the new lung is failing soon afterwards. After House talks to her brother, he reveals that for a year she had non-specific symptoms like ear pain, chest pain, hoarseness and a runny nose. He then diagnoses her with sickle cell trait.

[house 702 photo]

Photo by Fox

Photo by Fox

Danger level: Medium

What is it?

Sickle cell disease is an inherited disease which affects our red blood cells. It causes them to stick to each other and interrupt the blood flow in small vessels, so less blood gets to the organs.

Who gets it?

Sickle cell disease is a genetic disease, meaning that people inherit it from their parents. There is a defective gene in the disease (called “hemoglobin beta-chain”). When a person gets two defective copies passed on from their parents (one from the mother and one from the father) they are sick and have sickle cell disease. If they only inherit one copy (from their father or mother) they are carriers, and their condition is called sickle cell trait.

Sickle cell disease isn’t very rare – one out of 625 people in the United States has the disease.

It’s much more common in Afro-Americans – 8% have the sickle cell trait, compared to only 0.24% of white people. It’s also common in Africa, Greece, Turkey and India.

It can affect men and women alike.

What causes it?

Our red blood cells carry oxygen and bring it from our lungs to organs in our body. It’s necessary for them to survive. The molecule in the red blood cells that’s responsible for carrying the oxygen is called hemoglobin.

The defect in the gene in sickle cell disease causes hemoglobin to be distorted, meaning the red blood cells get distorted as well. They look like a sickle (hence the name of the disease).

Normal and distorted red blood cells. Photo by NIH.

This causes the red blood cell to be sticky. The red blood cells stick to each other inside small blood vessels and clog them, and so less blood gets to the organs.

How does it feel?

Symptoms of sickle cell disease usually start when the baby is 6 months old. They include:

• Pain attacks (crises): This is the most common symptom. The pain can appear in the abdomen, bones, joints, and soft tissue. Each attack lasts for hours-days, it stars and ends suddenly. These crises are most common in small children . Some patients have lots of them and others have only a few or even none at all. Sometimes pain is accompanied by fever or general discomfort.
• Hand-Foot Syndrome: Swollen and painful hands and feet. This lasts 1-2 weeks and is common in very small children (6-18 months).
• Acute Chest Syndrome: Chest pain, fever, cough and difficulty breathing. This is a medical emergency, and if untreated can cause severe breathing problems and even death. It can happen in children and adults.
• Damage to internal organs: This happens when less blood gets to an organ- that organ might stop working. It can happen in many organs, like kidneys, liver and lung. When this happens in the brain, it can cause a stroke – 30% of the children with sickle cell disease have at least one stroke. When it happens in the spleen repeatedly, it causes it to stop working, and since the spleen is part of our immune system, this can cause frequent infections which can be life-threatening.
• Anemia: Sickle cells tend to break down and die, so there are less of them. Anemia causes paleness, weakness, difficulty in exercise and might cause a delay in growth and puberty. Since the anemia is chronic, most patients get used to it and don’t have a lot of symptoms.
• Jaundice: This is a yellowish shade of the skin and the white part of the eyes. It’s caused by the breaking down of sickle cells.

This video explains the disease and its symptoms.

How is it discovered?

A blood test can discover if there is an abnormal hemoglobin molecule in the blood. A genetic test can also be done, which tests for the bad gene. A genetic test can also be done during pregnancy, so it can be found if the baby will have the disease.

How is it treated?

The treatment focuses mainly on treating the symptoms and preventing pain crises – things such as treating infections with antibiotics, easing the pain with pain killers, etc. Also, a drug called hydroxyurea can help. It causes the body to create a different type of hemoglobin, which helps.

What happens after treatment?

The treatment isn’t meant to cure the disease but to help with the symptoms. The life expectancy in sickle cell disease is around 50-60 years, and the most common causes of death are organ failure (especially kidney) and infections.

And what about sickle cell trait? This is when only one copy of the gene is defected, and less then a half of the hemoglobin is distorted. They usually live normally without any symptoms, except in rare cases (like on the House episode).

The bottom line – how do I avoid it?

If both parents have the sickle cell trait or the disease itself, it’s important to perform a prenatal test as explained before.

People who have sickle cell disease already can sometimes avoid the pain crises: drink enough water (to avoid dehydration), avoid smoking and high altitudes (which cause a decrease in the level of oxygen in the blood), avoid cold places, and when exercising rest frequently and drink a lot.

Related posts:

1. Mastocytosis – It’s Not A Tumor, But Its Growth in Your Body Can Kill You (As Seen On House MD)
2. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – When Certain Conditions Can Destroy Blood Cells
3. Behçet’s Disease – Inflammation of Your Blood Vessels, Throughout the Body (As Seen on House MD)

This week, more than 1,000 people got sick and 16 died in an outbreak of HUS – a disease related to the bacteria E. coli. Initially cucumbers imported from Spain were blamed to be contaminated with the bacteria, but today this theory was proved wrong, and the source of the infection remains a mystery. What exactly is HUS, and what can you do to avoid it?

Initially, Germans have been warned not to eat cucumbers. (Photo by kobiz7)

Danger Level: High

What is it?

Hemolytic Uremic Syndrome (HUS) is a disease that causes anemia, renal failure and a low platelet count in the blood.

Who gets it?

Most cases of HUS develop in young children, but it can certainly happen in adolescents and adults as well.

It can affect men and women alike.

It’s usually not very common, occurring to 0.5-2 people out of 100,000 in the US per year.

What causes it?

The most common cause for HUS is infection with E. Coli bacteria. E. coli (or by its full name, Escherichia coli) is actually a large group of germs, some of them live in the intestines of healthy people. The type of E. coli which causes HUS is a violent type, which produces a toxin called Shiga-Like Toxin. The toxin is absorbed to the blood through the intestines, and damages the cells that create the most internal layer of blood vessels – especially in the kidney but also in other organs. This damage causes all the symptoms of HUS.

You can get infected with this type of E. coli by eating contaminated and undercooked meat or produce, drinking unpasteurized contaminated milk or swimming in contaminated pools and lakes. It can also be transferred by contact with infected people, for example – in day-cares.

E. coli (Photo by Phil Moyer)

There are other not-common causes for HUS, including:

• Other infections: Some other bacterial and viral infections can also cause HUS, but this is much less common.
• Medications: Several medications can (rarely) cause HUS, including birth control pills, some chemotherapy drugs and cyclosporine – which is used to suppress the immune system (for example after an organ transplant).
• Other diseases: Systemic Lupus Erythematosus (SLE), Preeclampsia and inflammation in the kidneys after radiation treatments.
• Some cases are genetic.

How does it feel?

1. Food Poisoning: The first symptoms are food-poisoning symptoms caused by the E. coli bacteria themselves. This can include abdominal pain, a fever, vomiting and diarrhea which usually becomes bloody at some point. these symptoms appear 5-10 days before all the other symptoms.
2. Anemia: This causes the sick person to look pale and be pretty tired, weak and irritable.
3. Bleeding: There might be external bleeding (from the nose of mouth) or bleeding under the skin, which looks like small unexplained bruises. this is caused by a low number of platelets, which are the cells in our body responsible for blood clots.
4. Kidney Failure: Can cause the body to produce less urine.

The story of 16-year-old Aly, who recovered from HUS

How is it discovered?

When suspecting HUS, the doctors will draw some blood. They will check several things: Complete Blood Count will let them know if there is anemia or low platelets, and kidney function tests will determine if there is kidney failure. They will also look at the blood under a microscope. Other tests that might be needed are a urine test (to look for blood in the urine) and a stool sample (to look for the germs).

How is it treated?

The treatment is given in the hospital, and the goal is to relieve the symptoms:

• The most important part of the treatment is dialysis treatments until the kidneys start working again. If the disease is diagnosed early enough, dialysis might not be needed. The doctors can save the kidneys from failing by giving a lot of fluids.
• The anemia is treated with blood transfusions, and the bleeding problems with platelet transfusions.
• Another possible treatment is plasma-exchange (also called plasmapheresis) – in which blood is removed from the body and blood from a donor is returned back. This is used to remove elements that cause the disease from the blood.

Although the cause is an infection, antibiotics are not part of the treatment.

Dialysis treatment.

What happens after treatment?

In most cases (about 90%, and especially in children), if the disease is discovered early enough and treated correctly, the patient recovers. The other 10% might die or remain with chronic kidney failure which will require dialysis treatments for the rest of their life or a kidney transplant. Some of the people who recover will develop kidney problems or hypertension later in life.

The bottom line – how do I avoid it?

The best way to avoid HUS is to avoid food-poisoning with E. coli – this can be done in several ways:

• Treating foods carefully: You should wash hands often when cooking, keep meat in the refrigerator or freezer, wash fruit and vegetables under running water, cook meat thoroughly without leaving pink areas (if you have a thermometer for cooking, cook to a temperature of at least 160°F [70°C]).
• Avoiding certain foods: Especially undercooked meat, unpasteurized milk and cider. Drink only clean water. Remember that the contaminated food will not necessarily look spoiled of taste bad.
• Avoid swimming in dirty lakes and pools.
• If you have diarrhea – wash hands often.

Related posts:

1. Everything You Need To Know About Fast Food – An Infographic
2. In the News – Hodgkin’s Disease
3. Naphthalene Poisoning – When Mothballs Kill More Than Just Moths (As Seen on House MD)

This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)


On episode 19 of season 7, called “Last Temptation”, a 16 years old patient named Kendall Pierson collapses while embarking on a boat trip. Later her hand turns blue while running on a treadmill and her pineal gland is found to be calcified. Later she collapses due to a hypertensive crisis. An MRI of her arm discovers that she has a tumor called lymphoid sarcoma in the arm. As hard as we tried, we couldn’t really find enough data about lymphoid sarcoma. Seems the writers went a little too rare with the disease, or that a more likely diagnosis is in place here: osteosarcoma.

Photo by NBCUniversal

Danger level: High

What is it?

Osteosarcoma is the most common type of bone cancer is children.

Who gets it?

In the United States, about 400 children  and adolescents (under age 20) are diagnosed with osteosarcoma each year. 

It’s a little more common in black people and in males. It’s also more common as a child ages – quite rare under the age of 5, but becoming more common towards age 20 (it’s more common at the age when a child is growing faster).

What causes it?

The exact reason for the development of osteosarcoma isn’t known. There are, though, some risk factors which increase a child’s risk of developing the tumor:

1. Rapid bone growth: As mentioned above, at times when the child grows faster, their chances of developing an osteosarcoma increase.
2. Exposure to radiation
3. A genetic problem: For example, children with retinoblastoma (more on that in a future post) are more likely to develop osteosarcoma. (other genetic diseases associated with it include Li-Fraumeni syndrome, and Rothmund-Thomson syndrome – more on those in the future).

How does it feel?

Any bone may be involved in the disease, but it’s more common in areas of bone which grow faster, such as the end of the thigh bone, the beginning of the shinbone, or the beginning of the arm bone.

Usually the child will feel pain in the area, and a swelling may also be felt there. Sometimes the child may limp as a result of the pain.

How is it discovered?

Usually an x-ray is performed first on the area. It will show an area of destroyed bone (called in medicine a “lyric lesion”). An example for that can be seen in this x-ray.

Photo by bc the path

In order to diagnose osteosarcoma for sure, a piece of the bone is needed (a process called a biopsy). It is then looked at under a microscope. This is how it looks:

There are many types of cells in this picture, which we can’t explain here. There is also a clear pink area, created by the tumor. Photo by Nephron.

CT and/or MRI are usually also needed, to see if the tumor has spread to other areas in the body (it tends to spread to the lungs and to other bones).

How is it treated?

Osteosarcoma is usually treated with chemotherapy, after which surgery is performed, which either removes the tumor or involves an amputation of the limb in which the tumor exists (like the case on the House episode). After that, more chemotherapy is usually used.

What happens after treatment?

The most important way to answer that depends on whether the tumor has spread to other areas, a fact which worsens the outcome.

About 60-70% of children with a tumor that hasn’t spread are cured thanks to treatment. Those with metastasis have a worse outcome – only 30-35% of them will survive.

There is currently no known way to prevent osteosarcomas.

The following video is about Bianca Bresadola, who died of osteosarcoma. May she rest in peace.

Related posts:

1. Neuroblastoma – The Most Common Cancer in Infants
2. Paget Disease of Bone – Bone Deformity For An Unknown Reason
3. Necrotizing Fasciitis Revisited, Osteosarcoma, and Aneurysms – (As Seen on House MD)

This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)


On last night’s episode of House (season 7, episode 14, called “Recession Proof”) a man working as a janitor on crime scenes develops a set of symptoms which contain a rash, fever (which goes up pretty quickly), swollen joints, conjunctivitis (an inflammation of the eye), hearing loss, and kidney failure. All of these appear when he is cold. His set of symptoms fits a condition called Muckle-Wells syndrome, yet the diagnosis arrives too late…

Photo by Fox

Danger level: High

What is it?

Muckle-Wells syndrome (MWS) is a condition in which there are spells of a skin rash, fever, and joint pain. With time, hearing is impaired, and kidney function deteriorates.

Who gets it?

MWS is a rare disorder. Even though it’s been encountered throughout the world, no one knows exactly how common it is, and who’s more prone to get it.

What is known is that it’s genetic, and can be passed on in families.

What causes it?

MWS is caused by a mutation in one of the genes in our body, called NLRP3 (or, by another code name, CIAS1). Genes in our body serve as the blueprint for our body’s various functions and structures. This gene tells our body how to make a certain protein named cryopyrin.

Cryopyrin helps to regulate our body’s inflammation process. When it’s damaged, like in this disease, it can work overtime, and so our body reacts by causing inappropriate inflammation, leading to a rise in temperature and damage to the body’s cells and tissues.

The inflammation can cause our body’s temperature to rise.
Photo by Andres Rueda

How does it feel?

People with MWS have recurrent episodes of the disease. Those can begin during infancy or early childhood. They may appear out of nowhere, or have certain triggers that can cause their appearance. Examples of such triggers include cold (like the trigger on House), heat, dampness, or fatigue.

The episodes contain a rash, fever, painful and swollen joints, and conjunctivitis – an eye inflammation. With time, hearing loss also appears. It’s caused by a continuous damage to the nerves responsible for hearing (which makes the situation shown on House, in which the patient lost his hearing within a day or two, unlikely…).

There is also damage to the kidneys in the disease. It’s caused by the deposition of a substance called amyloid, which also appears in other diseases. This is also progressive (and again, the picture on the House episode doesn’t make much sense).

How is it discovered?

The symptoms give a clue to the condition. To be sure, genetic testing is done, which shows the mutation in the NLRP3 gene (although not all patients have the mutation).

How is it treated?

Until 2008, no specific drug was used for this condition. Hearing aids were used for the hearing impairment, anti-inflammatory drugs and steroids were used for the joint pain.

In 2008, a drug called Arcalyst (or rilonacept) was approved for use in MWS (it’s also mentioned on House). It blocks our inflammatory response, helping the body fight the disease. In 2009, another drug, named Canakinumab, was also approved for this condition.

What happens after treatment?

The condition can lead to deafness and to kidney failure with time. The kidney failure can lead to death.

The bottom line – How do I avoid it?

MWS is a genetic disease. There is nothing that is known which can prevent this condition.

Related posts:

1. Common Variable Immunodeficiency (CVID)–When a Cold Can Threaten Your Life (As Seen on House MD)
2. Cushing’s Syndrome – Could You Be Exercising and Dieting and Still Be Fat? (As Seen On House MD)
3. Treacher-Collins Syndrome – Being Born Without Cheek Bones (As Seen on Grey’s Anatomy)

On Thursday’s episode of Grey’s Anatomy, a girl with no cheek bones needed a surgery so that she could start playing sports without the fear of getting her face harmed. The girl had a syndrome called Treacher-Collins syndrome, explained below.

Danger: Medium

What is it?

Treacher-Collins Syndrome (TCS for short), also called mandibulofacial dysostosis, is a rare genetic disease causing deformities in the facial bones of our skull, such as absent cheek bones.

Who gets it?

TCS is rare. It happens in 1 out of 40-70,000 births.

It is genetic, and in 40% of cases runs in the family, meaning that the child inherits the defective gene from one of the parents in 40% of cases. The other 60% don’t depend on the parent, and the defective gene appears for the first time in the child.

What causes it?

When a fetus develops, its organs have many phases along the way to becoming adult organs. An example for that are the pharyngeal arches, grooves, and pouches. These are all structures that exist only in the fetus, while it’s developing in the womb. They develop slowly during pregnancy into adult organs.

For example – there are 6 pharyngeal arches, each developing into different organs or organ parts in our body.

A developing fetus. Three of the pharyngeal arches are labeled below (mandibular, hyoid, third).

In TCS, there’s a problem with growth of organs that derive from the 1st and 2nd arches (and grooves, and pouches) which are responsible for growth of structures in our face.

How does it feel?

Most people with TCS have underdeveloped facial bones, especially cheek bones, and a small jaw and chin (this is called micrognathia).

Sometimes an opening in the roof of the mouth can occur, called a cleft palate.

In severe cases, it may impair the baby’s airways and be life threatening.

In terms of appearance, people with TCS have eyes that slant downward, sparse eyelashes, and a coloboma, which is a notch in the lower eyelids. There can be other eye abnormalities, causing loss of vision.

The ears can also be affected and be absent, small, or have an unusual shape. This can also lead to hearing problems.

Here’s an example – this video is from a girl with TCS -

How is it discovered?

The looks of a child with TCS help diagnose the disease. The set of features unique to the condition help the doctor come at the correct diagnosis. Also, genetic testing can be done to see if the child has the defective gene.

If the doctor is in doubt, an facial image using x-ray or a CT scan can be used to help with the diagnosis.

How is it treated?

Plastic surgery can be used to treat certain deformities in the face (on Grey’s Anatomy, a bone graft was used to give the girl cheek bones).

Other things are also done to aid other problems that come with the disease, such as hearing aids for hearing loss, or help with breathing if the disease involves the airways.

What happens after treatment?

Children with this syndrome usually grow to become normally functioning adults. It’s important to address any hearing problems, so that the child can perform normally in school.

If there is a history of TCS in the family, genetic counseling may prevent the birth of a child with the condition.

You can learn more about the condition by reading the Reflections on Treacher-Collins Syndrome blog, written by Amie.

Related posts:

1. As Seen on Grey’s Anatomy – Tethered Spinal Cord Syndrome
2. Superior Canal Dehiscence Syndrome – Hearing Sounds Inside Your Own Body (As Seen on Grey’s Anatomy)
3. Osteoporosis – How Your Bones Can Get Thinner With Age And What You Can Do To Avoid It

We’re big advocates of the fight against heart disease here on A Disease A Day (you can read our series – “Understanding heart attacks” – part 1, 2, 3). Yet when people think about heart attacks, they usually think about older people.

According to a new research, younger people are also at risk. In fact, very young – the study, reported on WebMD, included 63 children at the average age of just 13. The study found that obese children’s blood vessels are stiffer. Stiffness in blood vessels is usually associated with aging and predicts heart disease. Specifically, stiffness in the aorta, as was found in the study, is associated with cardiovascular events and early death.

Photo by Patrick J. Lynch

According to Doctor Beth Abramson, quoted in the article, poor nutrition and inactivity are threatening children’s health and well-being. No word yet about a possible treatment, such as improved diet or more exercise.

The bottom line – if you feared that prolonged sitting in front of the TV or video games isn’t healthy for your kids, we may have first proof you were right.

For the full article, follow the link.

Obese Kids Have Signs of Heart Disease [WebMD]

Related posts:

1. Kawasaki Disease – A Childhood Disease That Can Endanger The Heart
2. Your Hair Could Predict an Upcoming Heart Attack
3. Alzheimer Disease – Are You at Risk?

This is part of our House MD Project series.

Episode 21 of season 1, named “Three Stories” is not a usual episode. Instead of the usual one patient story (and the occasional clinic patients), this episode tells 3 short stories (as its name implies). Each patient presented with a different disease. Since this episode was presented differently, so will this article digress from the usual presentation. The 3 diseases on that episode will be covered here in brief.

Disease 1 – Necrotizing Fasciitis

This long name means simply an infection by what is known as the “flesh eating bacteria”.

On the House episode, a 40 year-old farmer arrives at the hospital claiming he was bit by a snake. After an anti-venom doesn’t help him and his leg’s muscles begin to rot, it is found out he was actually bitten by a dog, a bite that infected him with a germ called streptococcus.

We already covered necrotizing fasciitis in the past and you can read all about this disease here:

Necrotizing Fasciitis (Flesh Eating Bacteria) – Are You at Risk, and How You Can Avoid It

Disease 2 – Osteosarcoma

update: We now have a complete article about osteosarcoma, if you’re interested to know more details

The 2nd patient is a 16 year-old volleyball player arriving at the hospital after what seems like a strained ankle. After some trial and error it is found she has osteosarcoma, a cancer in the leg of thigh.

Osteosarcomas are the most common malignant bone cancer in children (along with a cancer named Ewing sarcoma). The cause is unknown. In the US, about 400 children and adolescents younger than 20 years old are diagnosed with osteosarcoma each year. It most commonly affects adolescents.

The disease presents with pain in a bony site. A mass may be palpable in the area as well. X-ray image of the area can discover the tumor. A biopsy from the area is needed to make sure it’s osteosarcoma.

An x-ray picture of an osteosarcoma of the arm. Photo by bc the path

Before chemotherapy, osteosarcoma used to be treated with amputation alone. Today chemotherapy is used along with surgery which can cut the tumor. Sometimes amputation is still needed, as was seen on House.

Disease 3 – Aneurysm

The 3rd patient is actually Dr. House himself, telling the story of how he got his leg pain to begin with. Turns out he had an aneurysm in the artery of his leg which wasn’t diagnosed on time, leading to blockage of blood to his leg’s muscles, which led to muscle death.

An aneurysm is a dilatation of an artery. The chances of getting it increase with age (it happens to at least 3% of people older than 50). Most aneurysms don’t cause any symptoms and go unnoticed. As they progressively enlarge, though, they may cause symptoms as a result of compression of the surrounding area, of clogging, sending a blood clot, or rupturing.

In the case of the House episode, his leg aneurysm clogged with a blood clot. This led to blood not arriving to his leg muscles, causing muscle death.

Related posts:

1. Osteosarcoma–The Most Common Bone Cancer in Children (As Seen on House MD)
2. Necrotizing Fasciitis (Flesh Eating Bacteria) – Are You At Risk, and How Can You Avoid It
3. Acute Intermittent Porphyria Revisited (As Seen on House MD)

This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)


On episode 15 of season 1, called Mob Rules, a mobster named Joey arrives at the hospital with a coma, from which he comes in and out to repeatedly. It turns out Joey has ornithine transcarbamylase deficiency, a disease causing him to not being able to digest red meat. On a side note the team also discover he has hepatitis C (an infection transferred either by needle sharing or homosexual activity) and that he has a high estrogen level in his blood, caused from a drug used to suppress libido. The last two facts lead house to the conclusion that he is also gay.

Danger level: High

What is it?

Ornithine transcarbamylase deficiency (OTD) is a rare genetic disorder causing a problem with eating protein.

Who gets it?

OTD is a rare condition – it affects about 1 in every 80,000 people. The condition is genetic, meaning it is passed on in families. It also usually happens to males, due to the mode it is inherited.

Usually the condition becomes apparent in the first few days of life. Sometimes, though (like in the House episode), the condition can manifest later in life.

What causes it?

We live and function thanks to millions of reactions that happen in our body each day. One of those reactions happen inside a cycle of reactions called the urea cycle.

The urea cycle. Drawing by Yikrazuul

The urea cycle is a sequence of reactions that happen in our liver cells. It processes excess nitrogen, which is generated when our body uses protein. In order to get rid of the excess nitrogen, the cycle turns it into urea, which the kidneys can get rid of in our urine.

Each of the steps in the cycle happens through the action of a special machine, called an enzyme. In OTD, one of those enzymes is damaged or missing. Since the body can’t get rid of the excess nitrogen, it is accumulated in the body, turning into a dangerous substance called ammonia.

Ammonia is dangerous for our nervous system and so the condition causes neurological problems. The excess can also damage the liver.

How does it feel?

The condition, as we mentioned above, usually becomes evident in the first days of life. The baby will be lacking energy, vomit, or refuse to eat. Its breathing rate and body temperature will be poorly controlled. Sometimes seizures can occur, and even a coma is possible.

In adults the symptoms aren’t very different. They can include loss of appetite, irritability, heavy or rapid breathing, weakness, vomiting, disorientation, sleepiness, and also coma and death. (Remember that the guy on the House episode had recurrent comas).

How is it discovered?

A blood test is done which shows that the person has too much ammonia in their blood. There’s also a test done on a urine sample that can give a clue to the condition.

Also, a genetic test can find out if the person has the defective gene (although it doesn’t work all the time).

How is it treated?

Since the body can’t handle large amounts of nitrogen (it can’t turn it into urea like it normally should), the treatment includes measures that lower the amount of nitrogen in the body.

This includes not eating lots of nitrogen (protein is very nitrogen-rich. That is why a low-protein diet is subscribed. Remember the mobster in the House episode couldn’t eat steaks?).

Treatment includes saying goodbye to steaks. Photo by FotoosVanRobin

Treatment also includes lots of food and water when a person is ill (since otherwise the body tends to break down its own protein at these times) and some medications that can lower the nitrogen in the body.

What happens after treatment?

The baby’s brain can be damaged from the disease (by the ammonia) if not treated on time. It’s important to catch the disease on time, and then to keep with the strict diet throughout life.

The bottom line – How do I avoid it?

As with other inherited diseases, you can’t really prevent it once the person is born with a defective gene. Parents that know they carry the defective gene and can transfer it to their children can use genetic testing to test if the developing embryo has the defective gene (a process called preimplantation genetic diagnosis).

Related posts:

1. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – When Certain Conditions Can Destroy Blood Cells
2. Iron Deficiency Anemia – A Common Type of Anemia
3. Toad Venom Poisoning – If You Eat Certain Sea Foods You’d Better Read This (As Seen on House MD)

Ask every pediatrician and they will tell you that vaccines do no harm. At least nothing but side effects, like every drug can. Ask Dr. Andrew Wakefield, and he will tell you otherwise. In 1998 Dr. Wakefield published a study which linked the vaccine for measles, mumps and rubella to autism. That study influenced millions of parents to refuse the shot for their children, in spite of doctors’ recommendations.

Now, according to MSNBC, Dr. Wakefield was banned from practicing medicine in his own country, Britain.

Abandonment of the vaccine has led, according to the article, to a resurgence of the disease in Western countries where it had been mostly stamped out. Even US celebrities such as Jim Carrey and Jenny McCarthy have endorsed Dr. Wakefield’s approach.

Photo by alvi2047

We have already covered a possible consequence of measles here on A Disease A Day (called subacute sclerosing panencephalitis).

Now, as mentioned above, the UK have decided to deal with the problem, starting with Wakefield himself, as “Britain’s General Medical Council, which licenses and oversees doctors, found Wakefield guilty of serious professional misconduct and stripped him of the right to practice medicine in the U.K.”.

On our end, all we can do is try and convince you, if you’re a parent, to give the vaccine to your child. We hope that the following links will help:

• MSNBC’s article – “Britain bans doctor who linked autism to vaccine”
• Study dispels link between autism and measles vaccine – The Washington Post
• Anti-measles campaign saves seven million lives – The Independent

Having read that – are you convinced of the benefit of the vaccine? Or have you never had any doubt? Let us know in the comments below.

Related posts:

1. The Great Vaccination Debate–To Vaccinate or Not? [Infographic]
2. China to Provide First Swine Flu Vaccines
3. Subacute Sclerosing Panencephalitis (As Seen on House MD)