Hemorrhoidectomy

Hemorrhoidectomy is a surgery to remove hemorrhoids - enlarged veins that is found in and around the rectum and anus. Hemorrhoids may result from straining frequently due to constipation or child birth. Hemorrhoids can be classified into two types namely - external and internal. While external hemorrhoids occur below the anal sphincter and protrude at the anus, internal hemorrhoids occur above the anal sphincter and may be classified as first, second, third or fourth degree. External thrombosed hemorrhoids cause pain and they contain clotted blood. Normally the thrombosed external hemorrhoids are incised and the clot evacuated.

Hemorrhoidectomy becomes necessary when conservative measures fail to alleviate the severe burning, itching, swelling, protrusion, bleeding and pain in the anal area. Hemorrhoidectomy becomes appropriate when there are very large internal hemorrhoids, sometimes when internal hemorrhoids continue to cause symptoms after surgical treatment, when large external hemorrhoids cause significant discomfort in the anal area.

During the surgical procedure of hemorrhoidectomy, general anesthesia or spinal anesthesia is administered on the patient so that no pain is felt. Incisions are made in the tissue around the hemorrhoid. The hemorrhoid is removed and the swollen vein inside the hemorrhoid is tied off to prevent bleeding. The surgical area could either be closed with suture or left open. Surgery is performed using a scalpel, a cautery pencil or laser. Sometimes a circular stapling device is used to remove the hemorrhoid and close the wound. Here no incision is made. The hemorrhoid is lifted and stapled into place in the anal area. Recovery from hemorrhoidectomy may take about two to three weeks.

Normally the patient experiences pain after surgery . The doctor prescribes medicine to alleviate the pain. Some bleeding is normal after hemorrhoidectomy is performed, especially with the first bowel movement. Ice packs are recommended to be applied in the anal area to reduce swelling and pain. Sitz bath, with frequent soaks in warm water helps to relieve pain and muscle spasms. Stool softeners that contain fiber may help to make bowel movements smooth.

Hemorrhoids are found to recur in about 5% after hemorrhoidectomy. Hematoma, incontinence and infection in the surgical area and fecal impaction are some of the early side effects of hemorrhoidectomy. Late problems of hemorrhoidectomy could include stenosis or narrowing of the anal canal, formation of fistula between the anal and the rectal canal and rectal prolapse when the rectal lining slips out of the anal opening.

Hemochromatosis

Haemochromatosis is characterized by excess iron in the body. Just like lack of iron can cause anemia, excessive levels of iron in the blood are toxic. The effects are damaging since the iron mineral starts building up in the tissue. In many cases, Hemochromatosis is caused due to an inherited abnormality that causes the body to increase absorption of iron from the intestine. This condition is called primary Hemochromatosis. Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released.

Causes : Hereditary Hemochromatosis is an autosomal recessive condition. This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. Hemochromatosis afflicts nearly 1.5 million people in the United States and it is one of the most common genetic disorders in the US. Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. Since all of us have 2 copies of each gene, these individuals have an abnormal HFE gene and a normal gene. Thus they are called as carriers. Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. The culprit gene is on chromosome 6, known as HFE.

As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. But the chances of the person to develop symptoms depends on which gene mutation s/he has in addition to environmental factors. The 2 most common changes in the HFE gene are C282Y and H63D. To complicate things further, the age at which symptoms show up vary widely even within the same family.

Idiopathic Pulmonary Hemosiderosis (IPH), a disorder affecting largely children and young adults, is a similar disorder owing to abnormal accumulation of hemosiderin. Hemosiderin is a protein found in most tissues, but primarily in the liver. It is produced by digestion of hematin, an iron related substance.

Although it affects both sexes in equal proportion, women suffer later in their lives because of the blood loss in menstruation and child birth in their younger ages. This iron dose overload usually affects people in the age group of 30 - 60 years. It is essential to treat this condition lest it lead to heart failure or cirrhosis of the liver. 5% of cirrhosis cases are caused by hereditary Hemochromatosis.

In Hemochromatosis, as the excess iron is deposited in the liver, pancreas, heart, endocrine glands, skin, joints and intestinal lining, it may result in toxicity of the affected organs. Persons suffering from Hemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of Hemochromatosis are loss of body hair and darkening of skin. Cirrhosis of the liver might occur due to scarring of liver. This is accompanied by abdominal pain, jaundice and enlargement of the liver and spleen. Haemochromatosis can lead to heart failure or abnormal heart rhythms. The patient may show symptoms similar to heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may occur, like grayness or a tanned/yellow appearance. Idiopathic pulmonary hemosiderosis appears as paleness of the skin. At times, the patient may start spitting of blood from the lungs or bronchial tubes.

Diagnosis: Hemochromatosis is diagnosed through blood tests and liver biopsy. The usual diagnostic methods are genetic blood studies, blood studies of iron, Magnetic Resonance Imaging (MRI), and liver biopsy. Blood studies of transferrin iron saturation and ferritin (a protein that transports iron and liver enzymes) concentration are used to screen for iron overload. Genetic testing is a reliable technique of diagnosis of Hemochromatosis as this method became widely available. Diagnosis of idiopathic pulmonary hemosiderosis begins with blood tests and X-ray studies of the chest area.

Hemochromatosis Treatment: The first option of treatment is therapeutic venesection or phlebotomy ( a process of regular bloodletting, similar to blood donation). Patients may need to undergo these procedures one or two times a week for a year. The frequency of phlebotomy may be reduced subsequently based on the condition of iron build up. For cases of patients who cannot tolerate phlebotomy owing to other medical conditions can be treated with Desferal (Desferrioxamine). Patients suffering from Haemochromatosis must limit the consumption of iron. Some times chelating agents may be prescribed to control the absorption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron. Reduction in the intake of supplements containing iron and foods such as uncooked sea food may help manage this condition.

Prevention: Genetic testing might be the most helpful as variable severity has been noted in patients who have 2 C282Y genes compared to patients with 2 H63D genes or one of each. The best screening method may be iron and ferritin studies which are cost effective for the susceptible group of people. At the end of the day, Hemochromatisis is a common, easily and effectively treated condition. The complications arise in diagnosis as the symptoms mimic other medical conditions.

Angelman syndrome

Angelman syndrome is a neurological disorder predominantly caused in children. It was first discovered by Harry Angelman in 1965. This disorder is also popularly known as the happy puppet syndrome. Angelman syndrome is associated with genetics of the affected person and the symptoms that proceed as a result of it are developmental in origin. Children who are affected by this disorder show delayed developmental characteristics and sometimes impaired functionalities associated with it. Although Angelman syndrome is a rare disorder, studies indicate that one among every forty thousand children born is affected by it. The children are normal at birth but exhibit the symptoms of this disorder gradually.

Clinical Manifestations of Angelman syndrome

The clinical manifestations of the Angelman syndrome are associated with the developing stages of the child after birth. The initial sign are seizures indicating the probability of Angelman syndrome. The first appearance of seizures happens around the age of two. The head size is usually below the average. Mental retardation associated with speech difficulty or total speech impairment along with jerky and quick movements are classical symptoms of the Angelman syndrome.

This disorder is also remarkably noticed by visual facial disorientation such as reduced lip size, wide and constant smiling expression and protruding or prominent chin. Children affected by Angelman syndrome have poor motor skills and also face difficulties in sitting, standing and also walking. Apart from these symptoms, children who are affected by this disorder have strong affinity towards water. Behavior abnormalities such as frequent laughter, hyperactive nature and lack of consistent attention are predominant. Anatomical observations for Angelman syndrome include hypopigmentation, wide mouth with distantly spaced teeth and prominent jaw. People suffering from this disorder also experience heat sensitivity and difficulty in swallowing food.

Diagnosis of Angelman syndrome

The initial diagnosis of the Angelman syndrome is difficult because the symptoms begin to surface around the age of three. Many disorders such as autism have cohesive symptoms like the Angelman syndrome and hence careful analysis of the clinical symptoms and genetic parameters are done to avoid misinterpretation. Genetic testing can be done along with the detection of birth defects in the babies by keeping a track of developmental stages and behavioral patterns. Diagnostic genetic tests such as methylation tests are administered to confirm the Angelman syndrome.

Treatment of Angelman syndrome

Angelman therapy management is predominantly done by effective counseling. Top priority is given to patients who are prone to seizures. Clinical management techniques such as speech therapy, physiotherapy and occupational therapy are done to improve the motor skills. Monitoring and treating epileptic attacks and controlling hyperactive behavior are effective methodologies to treat and manage Angelman syndrome. Consistent monitoring of the general motor skills of the child followed by skills such as learning abilities, self-help and communication can aid in the identification of the disorder at an early stage.

Since sleep disturbance is also a common factor in the Angelman syndrome, consistently monitoring the sleep patterns can help evaluate the condition. Use of hypnotics such as benzodiazepines is recommended only for a short duration as they become addictive after a certain stage. Monitoring young children during the onset of puberty is of much significance as it helps in the effective counseling process involving sexual health and other related issues. Other therapies such as reflexology, hydrotherapy and also music help in the healing process.