“Fabry disease is a rare inherited disorder of lipid (fat) metabolism resulting from the deficient activity of the enzyme, alpha-galactosidase A (a-Gal A).”

National Organization of Rare Disorders

Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3 or GB-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds.

Pain is one of the more common symptoms of Fabry disease, and is often one of the first symptoms people experience. There are two major types of pain associated with Fabry disease:

• Ongoing burning, tingling pain, and discomfort. This type of pain is called acroparesthesia, and mainly affects the hands and feet.
• Occasional episodes of intense, burning pain. These usually start in the hands and feet, and can often spread to other parts of the body. These are called “Fabry crises”, and can be debilitating. Fabry crises may last anywhere from minutes to several days.

Pain – This pain can also be brought on by changes in weather, exposure to hot temperatures, stress, exercise, and/or fatigue.

Fatigue – Although the causes of fatigue in Fabry disease are not well understood, it is a common symptom of the disease. People with Fabry disease may need to manage their activity level and take frequent breaks.

Perspiring – Many people with Fabry disease either perspire very little (hypohidrosis) or not at all (anhidrosis). This can cause overheating, frequent fevers, and sensitivity to extremes in temperature. Impaired sweating is generally caused by damage to the nerves and sweat glands.

Exhaution – Some people with Fabry disease are unable to tolerate physical exertion, and may tire or become overheated even after mild activity. Physical exertion may also trigger episodes of pain. For these reasons, people with Fabry disease may need to modify their physical activities and/or avoid certain activities altogether.

Dark Red Skin Rashes – One of the most visible signs of Fabry disease is a reddish-purplish rash called angiokeratoma. This rash is characteristic of the disease, and may lead doctors to suspect Fabry disease. Angiokeratomas are generally located between the navel and the knees (doctors call this “bathing trunk distribution”), and sometimes in areas where the skin stretches, such as elbows or knees. Angiokeratomas usually appear during adolescence, and can become larger and more numerous with age.

Corneal whorling –  This is another symptom.  A starburst pattern on the cornea caused by GL-3 accumulation in the blood vessels of the eye. Corneal whorling can only be seen through a slit-lamp ophthalmoscopy exam. It typically does not affect vision.

Stomach problems – This can range from mild to severe. These disturbances may include pain after eating a meal, diarrhea, vomiting and nausea.

Heart Problems – As GL-3 accumulates over many years, progressive damage can occur to the tissues of the heart, as well as to those blood vessels that supply the heart. Heart problems due to Fabry disease may include:

• Enlarged heart (cardiac hypertrophy)
• Malfunctioning heart valves
• Irregular heartbeat
• Heart attack
• Heart failure

Kidney Problems – After years of GL-3 build-up, problems with the kidneys can develop, and kidney function may become compromised. Kidney damage can become so severe that the kidneys do not function properly (renal insufficiency) or may fail (renal failure). Thus, GL-3 accumulation in the kidneys represents a major health risk for those with Fabry disease, and may be present in the absence of kidney disease symptoms. However, kidney problems are not unique to Fabry disease. Often, it is other signs and symptoms (like pain and angiokeratomas) that may lead a doctor to suspect Fabry disease.

Nervous system problems – Significant GL-3 accumulation can thicken small blood vessels in the brain. As a result, people may experience a number of symptoms including:

• Weakness
• Head pain
• Numbness
• Dizziness
• Stroke

Hearing Problems – Hearing loss and tinnitus (ringing in the ears) may develop in adulthood.

Psychosocial problems – Often the difficult physical symptoms are only one of the challenges that people living with Fabry disease may face. They may also experience fear, depression, isolation, or guilt about passing the disease along.

“Creutzfeldt-Jakob Disease (CJD) belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs) or prion diseases.  Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges when examined under a microscope.  CJD is the most common of the known human TSEs.”

National Institute of Neurological Disorders and Stroke.

A human version of mad cow disease called variant Creutzfeldt-Jakob disease (vCJD) is believed to be caused by eating beef products contaminated with central nervous system tissue, such as brain and spinal cord, from cattle infected with mad cow disease.

Web M.D.

“A healthy diet and lifestyle are your best weapons to fight cardiovascular disease. It’s not as hard as you may think! Remember, it’s the overall pattern of your choices that counts. Make the simple steps in your life for long-term benefits to your health and your heart.  Go to AHA diet and life style recommendations for more information.”

American Heart Association

 “If you are what you eat, it follows that you want to stick to a healthy diet that’s well balanced.  You want to eat a variety of foods,You don’t want to be overly restrictive of any one food group or eat too much of another”

Stephen Bickston, MD, AGAF-American Gastroenterological Association Fellow (professor of internal medicine and director of the Inflammatory Bowel Disease Center at Virginia Commonwealth University Health Center in Richmond)

“Eating Disorders rank among the most serious public health concerns in the United States and have the highest mortality rate of any mental illness.:

The center for eating disorders at Sheppard Pratt

ANOREXIA NERVOSA VS BULEMIA

• Medical Complications of Anorexia Nervosa:

• Low heart rate, low body temperature, low blood pressure,  irregular heartbeat

• Slowed digestion causing pain, early fullness, nausea, bloating and constipation

• Hepatitis of starvation, liver failure

• Loss of period in females, low testosterone in males, infertility

• Bone marrow suppression, anemia

• Bone loss and osteoporosis

• Thyroid abnormalities, low blood sugar

• Brain atrophy, cognitive difficulty

• Dry skin, hair loss, lanugo hair growth

• Aspiration pneumonia, respiratory failure
• High risk for refeeding syndrome, a potentially deadly complication of injudicious refeeding

• Medical Complications of Bulimia Nervosa:

• Dental erosion and infections, parotid gland swelling

• Esophageal rupture

• Gastroesophageal reflux (GERD), constipation

• Low potassium, low sodium

• Severe edema or fluid overload

• Dehydration, fainting

• Irregular heartbeat
• SeizuresFirst know the red flags. Red flags that may indicate an eating disorder include:

• For Treatment:

• Skipping meals
• Making excuses for not eating
• Eating only a few certain “safe” foods, usually those low in fat and calories
• Adopting rigid meal or eating rituals, such as cutting food into tiny pieces or spitting food out after chewing
• Cooking elaborate meals for others, but refusing to eat them themselves
• Collecting recipes
• Withdrawing from normal social activities
• Persistent worry or complaining about being fat
• A distorted body image, such as complaining about being fat despite being underweight
• Not wanting to eat in public
• Frequent checking in the mirror for perceived flaws
• Wearing baggy or layered clothing
• Repeatedly eating large amounts of sweet or high-fat foods
• Use of syrup of ipecac, laxatives, the over-the-counter weight-loss drug orlistat (Alli), or over-the-counter drugs that can cause fluid loss, such as menstrual symptom relief medications
• Use of dietary supplements or herbal products for weight loss
• Food hoarding
• Leaving during meals to use the toilet
• Eating in secret. Because of its powerful pull, an eating disorder can be difficult to manage or overcome by yourself. Eating disorders can virtually take over your life. You may think about food all the time, spend hours agonizing over what to eat and exercise to exhaustion. You may feel ashamed, sad, hopeless, drained, irritable and anxious. You may also have a host of physical problems because of your eating disorder, such as irregular heartbeats, fatigue, and bowel or menstrual troubles. If you’re experiencing any of these problems, or if you think you may have an eating disorder, seek medical help.
• Urging a loved one to seek treatment

• When to see a doctor

• Unfortunately, many people with eating disorders resist treatment. If you have a loved one you’re worried about, urge him or her to talk to a doctor. Even if your loved one isn’t ready to acknowledge having an issue with food, you may be able to open the door by expressing concern and a desire to listen. If you’re concerned your child may have an eating disorder, contact his or her doctor about your concerns. You can get a referral to qualified mental health providers for treatment.
• Keep in mind, however, that in children it’s sometimes hard to tell what’s an eating disorder and what’s simply a whim, a new fad, or experimentation with a vegetarian diet or other eating styles. In addition, many girls and sometimes boys go on diets to lose weight, but stop dieting after a short time. If you’re a parent or guardian, be careful not to mistake occasional dieting with an eating disorder. On the other hand, be alert for eating patterns and beliefs that may signal unhealthy behavior, as well as peer pressure that may trigger eating disorders.

“When one hears the term eating disorder, most Americans’ minds automatically think about anorexia and bulimia. Both of these mental illnesses are devastating to the victims’ bodies, mental health, and self-image, as well as the victims’ loved ones. These people experience drastic changes in weight and appearance. Although they are similar, these illnesses differ in the victims’ motivation, their symptoms, and the ramifications of their behavior on their health.”

Lone Star College

“Black Americans — and Mexican-Americans — have twice the risk of diabetes as white Americans. In addition, blacks with diabetes have more serious complications — such as loss of vision, loss of limbs, and kidney failure — than whites.”  (Keep in mind all 3 are caused by Diabetes (DM) but if the pt had loss of vision or poor kidneys intially the DM made it worse.)

Maudene Nelson, RD, certified diabetes educator at Naomi Barry Diabetes Center at Columbia University.