What is Hereditary Hemorrhagic Telangiectasia?

Hereditary hemorrhagic telangiectasia (HHT) is a genetic condition that causes the abnormal formation of blood vessels in the mucous membranes, brain, liver, lungs, and skin. The presence of abnormal blood vessel formation may lead to gastrointestinal bleeding, nose bleed, and other organ problems.

Symptoms of Hereditary Hemorrhagic Telangiectasia

Symptoms of HHT are related to  abnormal blood vessels that may lead to easy bleeding. Symptoms include:

Small vascular formations in the skin and mucous membranes

The small, thin vascular malformations are called telangiectasias which may be apparent on the skin of the face, legs, mouth, lips, fingers, tongue, and other sun-exposed areas. The lesions may bleed, but the most common concern is that these small vessels are cosmetically displeasing. The telangiectasias often appear suddenly and increase in number over time.

Arteriovenous malformation (AVM)

These are larger vascular malformations that occur in major organs of the body such as the brain, liver, lungs, and even the spinal cord. Blood clots in the brain may lead to stroke, and the inability to filter out bacteria may lead to brain abscess when the infection reaches the brain. Bleeding in the lungs may cause hemoptysis (coughing up blood).

Breathlessness

Breathlessness is also a sign of AVM in the lungs. AVM allows the unoxygenated blood to bypass the alveoli; thus there is poor blood oxygenation which causes breathlessness.  There may also be breathing difficulty which is more severe when sitting than lying down.

Cyanosis

Poor blood oxygenation in the lungs may also lead to cyanosis due to severe hypoxia. Chronic hypoxia may also lead to clubbing of the fingers.

Epistaxis

Epistaxis or nose bleeding is a common problem associated with HHT. Nose bleed is a common occurrence in childhood and may affect up to 95 percent of people with HHT. Nose bleed results from the rupture of the telangiectasia found on the mucosal lining of the nasal cavity.

Blood in vomitus

Blood appearing in the vomitus may indicate bleeding in the stomach or esophagus due to lesions in the upper gastrointestinal tract.

Black stool

Black stool, which may also be apparent, is a sign of bleeding of small lesions in the lower gastrointestinal tract.

Anemia

Anemia may be due to various small bleeds in the body such as in the gastrointestinal tract (GIT) and nose. Patients may experience iron deficiencythat may manifest as paleness and fatigue.

Congestive heart failure may develop when the heart compensates for the limited amount of blood that goes into the organs due to large vascular malformations. Affectation of the liver may cause portal hypertension and eventually ascites (the presence of accumulated fluid in the peritoneal cavity). Portal hypertension may also lead to esophageal varices.

Genetics and Pathophysiology

HHT is an autosomal dominant trait, i.e., the offspring may have a 50-percent chance of acquiring the disorder. However, new mutations have been documented in people with no HHT in the family. Affected people carry one abnormal gene of HHT. It appears that carrying two abnormal copies of the gene is not compatible with life); thus no homozygotes have been documented. Genetic mutations in HHT are often associated with mutations in ACVRL1 or ENG gene. There are a total of 600 gene mutations that were known to cause HHT.

The pathophysiological mechanism of HHT involves changes in angiogenesis (development of blood vessels). Angiogenesis requires the activation of smooth muscles, endothelium, and pericytes. In HHT, however, there is a disruption in the balance on the pro- and antiangiogenic signals in the vasculature, thereby leading to friable growth of blood vessels. Being friable, the vasculature has an increased tendency to bleed.

Diagnosis

There are many diagnostic tests for HHT which are used to confirm the presence or absence of HHT, and to identify complications of HHT. Diagnostic tests include:

• Physical examination

Physical examination usually identifies telangiectasia in the skin and mucous membranes. Laryngoscopy and endoscopy are done to detect lesions in the nose and larynx.

• Esophagogastroduodenoscopy (EGD)

Esophagogastroduodenoscopy usually detects the presence of telangiectasia in the digestive tract through direct visualization of the gastrointestinal tract (GIT) mucosa. Capsule endoscopy may be employed to detect telangiectasia in the small intestines.

• Chest X-ray or radiology

Chest X-rays are used to identify the presence of AVM in the lungs. Additional pulse oxymetry may be used to identify hypoxia caused by AVM in the lungs.

• Bubble contract echocardiography

This test is used to detect abnormal connections in the arteries and veins in the lungs. The lungs normally remove air bubbles from the circulation. The presence of air bubbles in the left chambers of the heart may indicate lung or heart AVMs.

• CT scan

CT scan may be done to detect lung lesions. It is also used to detect AVMs in other organs such as the brain.

• Cardiac catheterization

This is often employed to determine the presence of increased pressure in the right chambers of the heart due to liver congestion.

• Doppler ultrasonography

This test is used to detect problems in the liver such as the presence of vascular lesions.

• Genetic testing

Genetic testing is not often employed to ascertain the diagnosis, but it is used to identify the specific gene mutation that may have caused the disorder.

Criteria for HHT

In order to diagnose HHT, Curacao criteria is employed. The presence of three or all of the four criteria indicates the definite presence of HHT, while that of two of the four criteria indicates a possible presence of HHT.

• Recurrent and spontaneous epistaxis
• HHT in first-degree family member
• Presence of multiple telangiectasia in typical locations
• Presence of visceral AVM (in the spine, brain, liver or lungs)

Treatment of Hereditary Hemorrhagic Telangiectasia

Treatment regimens for HHT include intervention aimed at reducing the bleeding from the vascular malformations and other supportive treatments. These include:

Iron supplementation

Chronic and recurrent bleeding may lead to anemia; thereby iron supplementation is important to prevent iron deficiency states.

Blood transfusion

Blood transfusion is also employed in order to correct hypovolemia states or (reduced blood components) due to heavy bleeding.

Managements for nose bleed

Atraumatic nasal packing

Nasal packing may be placed for patients who experience acute nose bleed. Preventing nose bleed involves keeping the nasal cavity moist with the use of saline solution.

Nasal coagulation and cauterization

These modalities are used to prevent nose bleed from telangiectasia.

Interventional radiology

This measure involves the embolization of vascular lesions to prevent bleeding. The procedure involves the passing of a thin catheter through the arteries and the injection of substances to occlude the blood vessels. This procedure is appropriate for severe bleeding.

Surgery

Surgery becomes the last resort for HHT treatment. Saunder’s procedure or septal dermoplasty involves transplantation of skin in the nostrils. Young’s procedure, which involves the permanent closure of the nostrils may also be done.

Managements for organ AVM

The presence of organ AVMs is managed by using embolization to prevent organ bleeding. Metal coils may also be placed. AVMs in the brain may require craniotomy to locate the vascular malformations.

Pictures

A lot of people are very obsessed with the thought of losing weight and reducing body fat because a slim, slender body is the trend and those who are slim tend to suffer less from diseases compared to those who are overweight and obese. People may have tried dieting and exercising, but they have not lost that extra significant number of pounds that they had anticipated. The answer is clear: dieting or starving is not a good way to lose weight because it just increases hunger, thereby resulting in binge eating when the opportunity comes. Meal plans for weight loss are designed to provide a good diet plan for the day, to help shed those excess calories that make the body fat, and to satisfy the need for food. Meal plans for weight loss aim at providing the body with low caloric foods in order to reduce weight, but they also give the person the pleasure of eating. Losing weight doesn’t need to be tough and hard.

The Mechanism of Meal Plans for Weight Loss

Meal planning is a safe way to reduce weight because it still provides the body with adequate nutrients that the cells need but with reduced calories in order to prevent excess fats and weight in the body from accumulating.

Meal plans for weight loss utilizes a food pyramid guide in order to assist in preparing a meal which will provide the necessary nutrients minus the calories. Here is a sample food guideline for planning meals for weight loss:

Fluids

Fluids should constitute more in the diet, and it should be at least 8 glasses a day for men and women. The more fluids that are consumed, the more significant the weight loss becomes because fluids make a person feel full, preventing him or her from eating more. Fluids may come from water, tea, coffee, juice, and watery fruits. Sodas and other commercial beverages should be avoided because they contain huge amounts of sugar that can make the body fat.

Fruits

Fruits should be the second most abundant food component in the meal plans for weight loss. Having more than three servings a day can act as an alternative to major meal components such as carbohydrates, fats, and proteins which tend to increase the weight of men and women. Eating fruits at the start of the meal will make a person feel full fast.

Vegetables

As in the case of fruit consumption, it is recommended to eat more than three servings of vegetables a day. Vegetables contain fiber to effectively wipe out the unwanted cholesterol and calories in the gut.

Carbohydrates

Carbohydrate consumption should be limited to two servings a day. It is recommended to choose low glycemic ones such as whole grain, wheat, oat, barley. and rye. Moreover, instead of white bread, rice, and pasta which quickly contribute to weight gain, whole-grain bread, whole-grain pasta, and brown rice should be considered as alternative options.

Proteins

It is recommended to increase the consumption of lean proteins which are found in white meats such as chicken and turkey. Red and fatty meats should be avoided because they contain more fats and calories than white meats. Lean meats aid in the conversion of fats to muscles, thereby helping weight loss.

Fats

Meal plans for weight loss also emphasize reducing fat intake to one serving a day. Furthermore, saturated fats should be avoided; instead polyunsaturated fats which are found in vegetable oils and fish should be incorporated into the diet.

Here is a sample meal plan for weight loss for a day. Notice that the foods are yummy and complete, but only have low calories in it that aid men and women lose their weight.

A 1200-calorie diet is the maximum calorie intake for people who want to lose weight. The sample meal plan consists of only 1112 calories, which is a desired daily calorie intake for men and women. It can be observed that the meal, although not different from typical daily meals, has fewer calories. If it is impossible to avoid eating at fast food chains, then it would be wise to choose one a healthy fast food chain. Those meals which are simple and feature less-appetizing presentations are usually those with less calories. In addition, protein shakes may also be added to the diet, and one meal can be replaced with a protein shake. People may also try ginger since it provides benefits for weight loss as well as treats various ailments in the body.

Meal plans for weight loss provide an avenue for people who would like to lose weight without heavy food restrictions that other people adhere.

Sample Meal Plan Pictures

You can prepare similar charts and follow them.