Category Archives: Rare Diseases

Gigantism

Gigantism also called gigantism obtained from a Greek word gigas, is a Rare Endocrine Diseases characterized by excessive growth hormone which accelerates the growth of muscle, bones and connective tissue in childhood or youth before the end of puberty. It is always the consequence of a growth hormone secreting pituitary tumour. When left untreated or uncontrolled, some individuals suffering from gigantism have grown in excess of eight feet (2.4 m) tall. The most well-known example is that of Robert Wadlow, the tallest person in history.

Cause

Most common reason of gigantism is Pituitary gland tumor. The pea sized pituitary gland is located at the base of the brain; it makes hormones that control body temperature, metabolism growth, sexual development and urine production.

Some other cause of gigantism is:

  • McCune-Albright disease is a disorder that causes unusual growth of bone tissues, gland irregularities and patches of light-brown skin.
  • Carney complex is a hereditary condition which cancerous or non-cancerous endocrine tumors and spots of darker skin.
  • Multiple endocrine neoplasia type 1 is also a hereditary condition which causes tumours in the pancreas, parathyroid glands and pituitary gland.
  • Neurofibromatosis is a hereditary disease that causes tumors in the nervous system.

Signs

The symptoms may depend on the size of the pituitary gland tumor. As the tumor grows, it might press on nerves in the brain. Various people experience headaches, vision problems or nausea from tumors in this area. Other symptoms include,

  • Delayed puberty
  • Increased sweating
  • Gaps between teeth
  • Deafness
  • Insomnia and other sleep disorders.
  • Young girls will have release of breast milk & irregular periods
  • Thickening of the facial features(as the tumor grows it may press on nerves in the brain)

Diagnosis

  • If gigantism is suspected, the diagnosis is usually confirmed by taking blood test in-order to measure the levels of growth hormone and also insulin-like growth factor 1 is secreted into the blood primarily by the liver.
  • An oral glucose tolerance test (OGTT) is also performed. This includes drinking a glucose solution and then having blood samples taken periodically in order to evaluate the growth of hormone level. If the person suffers, the GH level does not suppress to low levels than in a normal population.
  • If that blood tests specify gigantism, then you have to perform another test like Magnetic Resonance Imaging (MRI) Scan of that gland in order to assess the size and also the position of the tumor.

Treatment

  • Surgery to remove any possible tumors on the pituitary gland, if the tumor has well defined borders.
  • Chemotherapy is then used to reduce any remaining tumor pieces.
  • Drug therapy is then used to control the production of more human until the body itself is able to control it.
  • In case when surgery is not an option, medication is the treatment of choice;
  1. Somatostatin analogs and dopamine agonists- reduce GH release
  2. Pegvisomant blocks effect of GH.

Extraprostatic Extension Indicates Aggressive Prostate Cancer

Prostate cancer is a type of Rare Oncology Disease, caused by mutations in your DNA, or genetic material, lead to the growth of cancerous cells. DNA is the biological in our cells that makes up our genes. Our genes regulate our cells function. These mutations cause cells in your prostate to start growing uncontrollably and unusually. Abnormal or cancerous cells continue to grow and divide until a tumour develops.

Symptoms

Due to the closeness of the prostate gland in relation to the bladder and urethra, prostate cancer may be accompanied by a variety of urinary symptoms. Some prostate cancer signs related to urination include:

  • Burning or pain during urination
  • Difficulty urinating, or trouble starting and stopping while urinating
  • More frequent urges to urinate at night
  • Loss of bladder control
  • Decreased flow or velocity of urine stream
  • Blood in urine (hematuria)

Prostate cancer might spread to proximate tissues or bones. If the cancer spreads to the spine, it might press on the spinal nerves. Other prostate cancer symptoms include:

  • Blood in semen
  • Difficulty getting an erection (erectile dysfunction)
  • Painful ejaculation
  • Swelling in legs or pelvic area
  • Numbness or pain in the hips, legs or feet
  • Bone pain that doesn’t go away, or leads to fractures

 Risk factors   

Some risk factors might affect your chances of developed prostate cancer, including your: family history, age, race, geographical location, diet.

Aggressive prostate cancers might be slightly different than slower-growing types of the disease. Certain risk factors have been linked to the development of more aggressive types of the condition, like if you:

  • Smoke
  • Obese
  • Have a sedentary lifestyle
  • Consume high levels of calcium

 Early detection

All men should begin annual or semi-annual PSA (prostate-specific antigen) monitoring. A minimal increase in PSA levels against your baseline score requires no further action until your next annual test. A significant increase should prompt a discussion with your doctor or urologist about follow-up PSA blood test.

The PSA blood test not only helps to diagnose prostate cancer, but it also helps monitoring for recurrence of prostate cancer after treatment. It allows a patient and his doctor to monitor if cancer is suspected, if lifestyle changes have had an impact or if cancer has spread.

 Prevention

  • Healthy Diet:
  • Eat plenty of yellow and orange vegetables.
  • Eats lots of tomatoes, especially cooked
  • Avoid fried food.
  • Always tried to eat plant based food like G-BOMBS(Greens, Beans, Onions, Mushrooms, Berries, and Seeds)
  • Drink green tea, diminish or eliminate alcohol, and increase intake of soy, fish.
  • Reduce consumption of meat, eggs and dairy.
  • Check sufficient vitamin-D levels with a blood test.
  • Healthy Weight:
  • Obesity puts men at increased risk.
  • A person with a BMI(Body Mass Index) above 30 is considered obese.
  • Exercise :
  • Exercise at least 3 hours a week.
  • Doctors can prescribe medications for men with a numerous risk factors

Huntington’s disease

8Huntington’s disease sometimes called Huntington’s chorea. Generally it is a rare and fatal inherited disease of the central nervous system. It is caused by a single dominant allele, which means that heterozygous individuals will develop the disease. This disease causes damage to brain cells, leading to a gradual loss of co-ordination, decline in mental ability and changes in personality. Around 4,800 people in UK have Huntington’s disease.

Types of HD

There are two types of Huntington’s disease.

  1. Adult onset -Adult onset is the most common type of Huntington’s disease. Symptoms usually develop in their mid-40s and 50s. Initial signs often include:
  • Depression
  • Irritability
  • Hallucinations
  • Psychosis
  1. Early onset – This type of Huntington’s disease is less common. Symptoms usually start to appear in Children and teenagers, which is very rare. Children with Huntington’s disease often have symptoms similar to Parkinson’s disease Early-onset Huntington’s disease causes mental, emotional, and physical changes, such as:
  • Drooling
  • Clumsiness
  • Slurred speech
  • Slow movements

Stages and Symptoms for HD

  • Early stage – Symptoms of Huntington’s disease may affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of co-ordination.
  • Mid-stage – As the disease progresses, attentiveness and short-term memory reduce and automatic movements of the head, trunk and limbs increase. The most common automatic movement is chorea. Walking, speaking and swallowing abilities depreciate.
  • Last Stage – Eventually the person is unable to care for him or herself. Death follows from difficulties such as choking, infection, or heart failure.

Prevention

  • As Huntington’s disease is a genetic disorder, any adult with this disease or any adult that carries the gene runs the risk of passing it on to their children.
  • Adults should think about adoption or other forms of reproduction.
  • In Vitro Fertilization with Pre-Implantation Screening is an important new discovery.