Sunday, August 2, 2009

Systemic Lupus Erythematosus (Lupus)

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Systemic Lupus Erythematosus (Lupus)

What is lupus?

Systemic lupus erythematosus, also known as SLE, or simply lupus, is a disease that is characterized by periodic episodes of inflammation of and damage to the joints, tendons, other connective tissues, and organs, including the heart, lungs, blood vessels, brain, kidneys, and skin. The heart, lungs, kidneys, and brain are the organs most affected. Lupus affects each individual differently and the effects of the illness range from mild to severe. Lupus can potentially be fatal.

The majority of people who have lupus are young women (late teens to 45). This may be due to the fact that estrogen (a female hormone) seems to be associated with lupus. Lupus affects more African-Americans, Asian Americans, Latinos, and Native Americans than Caucasian Americans. Lupus in children occurs most often at the age of 15 and older. According to the Arthritis Foundation, about 25,000 children and adolescents have lupus or a related disorder.

The disease is known to have periods of flare-ups and periods of remission (partial or complete lack of symptoms). Children with lupus can have a large degree of kidney involvement. The severity of the kidney involvement can alter the survival rate of patients with lupus. In some cases, kidney damage is so severe it leads to kidney failure.

What causes lupus?

Lupus is an autoimmune disorder, which means the body's immune system attacks its own healthy cells and tissues.

Lupus is considered to be a multifactorial condition. Multifactorial inheritance means that "many factors" are involved in causing a health problem. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. Often one gender (either males or females) is affected more frequently than the other in multifactorial traits. Multifactorial traits do recur in families because they are partly caused by genes. Females are affected with lupus three to ten times more often than males.

A group of genes on chromosome 6 codes for the HLA (human leukocyte antigens) antigens which play a major role in susceptibility and resistance to disease. Specific HLA antigens influence the development of many common disorders, many that are autoimmune related and are inherited as multifactorial traits. When a person has the specific HLA antigen type associated with the disease, they may have a genetic susceptibility to have the condition and be more apt to develop it. The HLA antigen associated with lupus is called DR2 and DR3. It is important to understand that a person without these antigens may also develop lupus, so that HLA antigen testing is not diagnostic or accurate for prediction of the condition.

What is the immune system?

The purpose of the immune system is to keep infectious microorganisms, such as certain bacteria, viruses, and fungi, out of the body, and to destroy any infectious microorganisms that do invade the body. The immune system is made up of a complex and vital network of cells and organs that protect the body from infection.

When the immune system does not function properly, a number of diseases can occur. Allergies and hypersensitivity to certain substances are considered immune system disorders. In addition, the immune system plays a role in the rejection process of transplanted organs or tissue. Other examples of immune disorders include the following:

autoimmune diseases, such as juvenile diabetes, rheumatoid arthritis, and anemia
immunodeficiency diseases, such as acquired immunodeficiency syndrome (AIDS) and severe combined immunodeficiency (SCID)

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What are the symptoms of lupus?

Lupus symptoms are usually chronic and relapsing. The following are the most common symptoms of lupus. However, each individual may experience symptoms differently. Symptoms may include:

malar rash - a rash shaped like a butterfly that is usually found on the bridge of the nose and the cheeks.
discoid rash - a raised rash found on the head, arms, chest, or back.
fever
inflammation of the joints
sunlight sensitivity
hair loss
mouth ulcers
fluid around the lungs, heart, or other organs
kidney problems
low white blood cell or low platelet count
Raynaud's phenomenon - a condition in which the blood vessels of the fingers and toes go into spasm when triggered by factors such as cold, stress, or illness.
weight loss
nerve or brain dysfunction
anemia

The symptoms of lupus may resemble other medical conditions or problems. Always consult your physician for a diagnosis.

How is lupus diagnosed?

Lupus is difficult to diagnose because of the vagueness of the symptoms each person might have. There is no single test that can diagnose lupus. A diagnosis is usually confirmed based on a complete medical history, reported symptoms, and a physical examination that may include the following:

blood test (to detect for certain antibodies that are present in most people with lupus)
blood and urine tests (to assess kidney function)
complement test (to measure the level of complement, a group of proteins in the blood that help destroy foreign substances; low levels of complement in the blood are often associated with lupus)
x-rays - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
erythrocyte sedimentation rate (Also called ESR or sed rate.) - a measurement of how quickly red blood cells fall to the bottom of a test tube. When swelling and inflammation are present, the blood's proteins clump together and become heavier than normal. Thus, when measured, they fall and settle faster at the bottom of the test tube. Generally, the faster the blood cells fall, the more severe the inflammation.
C-reactive protein (CRP) - is a protein that is elevated when inflammation is found in the body. Although ESR and CRP reflect similar degrees of inflammation, sometimes one will be elevated when the other is not. This test may be repeated to test your response to medication.

Further, the American College of Rheumatology created a set of criteria to assist physicians in making a diagnosis of lupus. The individual must have four of the 11 specific criteria to be diagnosed with lupus. It is important to remember that having some of the following symptoms does not mean that lupus is the diagnosis. The criteria include the following:

malar rash - a rash shaped like a butterfly that is usually found of the bridge of the nose and the cheeks.
discoid rash - a raised rash usually found on the head, arms, chest, or back.
sunlight sensitivity
mouth ulcers
inflammation of the joints
heart or lung involvement
kidney problems
seizures or other neurological problems
positive blood tests
changes in normal blood values

Treatment for lupus:

There is no cure for lupus. Specific treatment for lupus will be determined by your physician based on:

your age, overall health, and medical history
extent of the condition
your tolerance for specific medications, procedures, and therapies
expectation for the course of the disease
specific organs that are affected
your opinion or preference

If lupus symptoms are mild, treatment may not be necessary, other than possibly nonsteroidal anti-inflammatory medications (NSAIDs) for joint pain. Other treatment may include:

hydroxychloroquine, quinacrine, chloroquine, or a combination of these medications
corticosteroids (to control inflammation)
immunosuppressive medication (to suppress the body's autoimmune system)
liberal use of sunscreen, decreased time outdoors between 10:00 a.m. and 4:00 p.m., and wearing hats and long sleeves when outdoors, as about one-third of persons with lupus have the tendency to develop a rash in the sun
rest, including at least eight to 10 hours of sleep at night; naps and breaks during the day
stress reduction
well-balanced diet
immediate treatment of infections

Children with lupus should not receive immunizations with live viruses, including chickenpox, MMR (measles, mumps, rubella), and oral polio vaccines. Consult your child's physician regarding all vaccines.

Date Last Reviewed: 3/31/2009
Date Last Modified: 2/25/2008

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City’s First Public Cord Blood Donation Program Opens

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City’s First Public Cord Blood Donation Program Opens

Deborah Yolin Raley, with husband Howard and new son, Gabriel, was among the first patients to donate her baby’s umbilical cord to a public bank for patients in need of life-saving stem cell transplants.

For five years, Deborah Yolin Raley, PA-C, has been caring for patients with leukemia, lymphoma and other life-threatening blood diseases in need of stem cell transplants at Dana-Farber Cancer Institute.

This month, the physician assistant was among the first women to donate umbilical cord blood—an important source of the type of stem cells needed for transplantation—to those in need of a donor match when she delivered her second child at BWH.

“I’ve come full circle by being able to put my own baby’s cord into the registry and give someone else a chance for a potentially life-saving transplant,” said Yolin Raley, who gave birth to a son, Gabriel, on June 5. “For me to be able to give more to potential transplant recipients in this way is extremely gratifying.”

Most women delivering at BWH will have the opportunity to donate their baby’s umbilical cord blood, thanks to Boston’s first public cord blood donation program, jointly operated by BWH and Dana-Farber Cancer Institute. Through the program, cord blood is donated to a public bank, where it may be found to match any of the patients around the world who search the National Marrow Donor Program Registry for an available match.

“The basic idea of a public bank is to make tissues available for transplantation for those in need worldwide,” said Robert Barbieri, MD, chief of Obstetrics and Gynecology at BWH. “Previously, cord blood was discarded and unavailable to patients in need. With this program, there is a great opportunity for new parents to help save a life.”

Private cord blood banks opened several years ago, allowing parents to store their child’s cord blood for an annual fee in the event that their own child or a relative would someday need a stem cell transplant. “The chance that these parents will ever use that cord blood is rare,” Barbieri said. “But with a public cord bank, there is a much higher chance that someone in need will be able to use that cord blood specimen for a transplant.”

Another benefit is that umbilical cord blood has qualities that make it more suitable for transplant. “In general, it doesn’t cause problems as often as adult stem cells,” Barbieri said.

Joseph Antin, MD, head of the Stem Cell Transplant Program at Dana-Farber, said that donation of cord blood is risk-free, painless and costs nothing. “We are very grateful for the generosity of the families who donate these cells,” he said. “These cells are used for both children and adults with diseases that can be cured with stem cell transplantation, but who do not have an available adult donor.”

About 30 percent of patients in need of a transplant find a donor match within their families, but the other 70 percent need to search a worldwide database of unrelated donors, looking for their “miracle match.” Minority patients, especially, will benefit as they tend to have a more difficult time finding an adult match.

Within two weeks of the program’s opening, more than 30 women at BWH donated their umbilical cord blood. “Everyone is asked whether they want to participate, and most people do because they understand the value in this and the fact that if they don’t, the umbilical cord and the stem cells it contains are simply discarded,” Barbieri said.

Patients who donate cord blood will not know if it is used for a transplant, but for Yolin Raley, having the chance to help is enough. “Maybe mine will give someone the opportunity for a successful outcome,” she said. “One of our patients at DFCI had a cord blood stem cell transplant two years ago and now he is in remission from leukemia. He’s a reason why I come to work every day.”

For more information, visit www.brighamandwomens.org/corddonor

6 myths about pregnancy

Harvard Science
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National Institutes of Health Database

6 myths about pregnancy

It’s understandable to want to do all you can to deliver a healthy baby – but how do you know what’s best? Even for those things for which there is no clear answer, one thing is sure: you’ll get advice about it. Yet no matter how popular, advice that is clearly wrong is worth ignoring.

For the list of myths below, we searched the Web, asked readers, and surveyed friends and family. As expected, the number of opinions about what pregnant women should and should not do was exceeded only by the confidence placed in these rules and prohibitions. Here’s a sampling:

1. If you raise your arms above your head while pregnant, the baby will get the cord wrapped around its neck.
Up to 25 percent of fetuses have the umbilical cord wrapped around the neck. The good news is that nearly all of these babies develop normally and come into the world safely. It is the baby’s activity in the womb, not the mother’s activities during pregnancy that determine whether the cord loops around the baby’s neck. Another important risk factor is a long umbilical cord, but, even so fetal activity may be the more important factor, and in any case, this is not something a pregnant woman can control.

2. If the weather is stormy or the moon is full, you are more likely to go into labor, even if you are weeks away from your due date.
While believers may never be convinced otherwise, studies have demonstrated no increased incidence of labor based on the weather or the phase of the moon. Never mind that even if this were true, there’s nothing you could do about it! In fact, labor is triggered by a complex series of hormonal signals with no known connection to atmospheric conditions or the weather.

3. Don’t touch your cat while pregnant.
The recommendation regarding cats during pregnancy is due to toxoplasmosis, a parasite that can cause serious infections in humans and deformities in the developing fetus. Infection can follow handling of cat litter because it can be found in the stool of cats, so pregnant women are advised not to handle cat litter. However, no other activities are prohibited – feeding or petting your cat and allowing it to sit in your lap are perfectly acceptable while pregnant. And the risk of getting toxoplasmosis from your cat can be lowered even further if your cat has tested negative for this parasite or is an indoor cat that eats only store-bought canned or dry food.

4. Avoid sleeping on your back (or always sleep on your left side).
During the later stages of pregnancy, the uterus and baby may be large enough to press on the large vein, the inferior vena cava, and reduce flow of blood from the lower body (and uterus) back to the heart. But this tends to matter only in certain circumstances, such as during prolonged labor or when blood pressure is high, the kidneys are not functioning properly, or there is a problem with fetal development. In those situations, lying on the left side may be somewhat helpful. But for healthy women in the midst of a routine, successful pregnancy, the best position for sleeping is the one that’s most comfortable.

5. Avoid bumpy car rides (or being bumped in the abdomen, or lifting groceries) — they can trigger labor.
Minor bumps, taps and jolts — as in a bumpy, but “on-road,” car ride — are highly unlikely to trigger labor. The uterus and surrounding fluid provide ample cushioning and protection from minor trauma. However, major injury, as in a car accident or a fall, may complicate pregnancy, including inducing pre-term labor.

6. To keep your unborn child safe, avoid sex and exercise during pregnancy.
Within the bounds of common sense, there is no recommendation to avoid exercise or sex during pregnancy. The baby is protected in the uterus so that sex is unlikely to cause problems. Similarly, moderate exercise is not prohibited during pregnancy, and is often recommended. There are some limitations to this advice, however. Because excessive body heat can be harmful to a developing fetus, exercising in hot weather should be avoided. And if your pregnancy is complicated by bleeding, pre-term labor or other problems, your obstetrician may recommend that you avoid sex as well as certain exercises.

The Bottom Line

You may hear one of these myths or others during your pregnancy, or you may even be the one disseminating these well-meaning but misguided warnings. For most routine pregnancies, however, they can be safely ignored. If you read or hear something that concerns you, talk with your doctor about it, especially if it contradicts something he or she has recommended before.

You don’t need to live in fear of causing harm to your developing fetus for nine months — especially when the vast majority of routine pregnancies produce normal, healthy babies.

Retrun to main article: Pregnancy

Survey: Down syndrome diagnoses found wanting

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Brian Skotko, a student at Harvard Medical School and the Kennedy School, found that obstetricians and genetic counselors are falling short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. (Staff photo Justin Ide/Harvard News Office)

Survey: Down syndrome diagnoses found wanting

Seven specific recommendations offered

A survey of mothers in the March issue of the American Journal of Obstetrics and Gynecology found that obstetricians and genetic counselors are falling short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. Mothers who have children with Down syndrome, diagnosed prenatally, reported that doctors did not tell them about the positive potential of people with Down syndrome nor did they feel like they received enough up-to-date information or contact information for parent support groups. Further, the mothers report that all of these shortcomings are happening at an emotional time when women have to decide whether or not to continue their pregnancies. This study remains the largest and most comprehensive study on prenatally diagnosed Down syndrome to date.

One mother in the study reported that her genetic counselor "showed a really pitiful video first of people with Down syndrome who were very low tone and lethargic-looking and then proceeded to tell us [in 1999] that our child would never be able to read, write, or count change."

The study was conducted by Brian Skotko, a student at Harvard Medical School (HMS) and Harvard's John F. Kennedy School of Government, and supported by the Tim White Fund from Children's Hospital Boston and a part-time research grant from HMS.

Skotko mailed an 11-page survey to nearly 3,000 members of five Down syndrome parent organizations in California, Colorado, Massachusetts, North Carolina, and Rhode Island. Of the 1,250 responses, approximately 140 were from mothers who had received a definitive prenatal diagnosis through amniocentesis or chorionic villus sampling (CVS).

"Doctors continue to find it very challenging to deliver a diagnosis like Down syndrome to an otherwise happy expectant mom," says Skotko, who has a 24-year-old sister with Down syndrome and co-authored the award-winning book "Common Threads: Celebrating Life With Down Syndrome" (Band of Angels Press). "But the results of this study are conclusive: Delivering a prenatal diagnosis of Down syndrome does not have to be a gloomy affair. In fact, mothers in this study have now written the prescription on how best to explain the diagnosis in a loving manner."

Based on the mothers' comments, Skotko offers a seven-point "prescription" for communicating a diagnosis of Down syndrome:

Results from the prenatal screening should be clearly explained as a risk assessment, not as a "positive" or "negative" result.

Results from the amniocentesis or CVS should, whenever possible, be delivered in person, with both parents present.

Sensitive language should be used when delivering a diagnosis of Down syndrome.

If obstetricians rely on genetic counselors or other specialists to explain Down syndrome, sensitive, accurate, and consistent messages must be conveyed.

Physicians should discuss all reasons for prenatal diagnosis including reassurance, advance awareness before delivery of the diagnosis of Down syndrome, and adoption, as well as pregnancy termination.

Up-to-date information on Down syndrome should be available.

Contact with local Down syndrome support groups should be offered, if desired.

Skotko published a companion paper in the January issue of Pediatrics summarizing responses from women who received the Down syndrome diagnosis postnatally. He also has conducted the same pair of studies in Spain to get a cross-cultural perspective.

Allen Crocker, Skotko's faculty adviser on the project and director of the Down Syndrome Program at Children's Hospital Boston, says that the survey findings echo his nearly 40 years of experience working with families. ''Physicians have consistently been inadequate and incomplete, and, on occasion, offensive,'' he says. ''These two studies offer the most searching review of parents' experiences of postnatal and prenatal presentation of a diagnosis of Down syndrome ever published, and they have been done with considerable statistical care. This is clearly a case of families teaching physicians.''

Approximately one of every 1,000 children in the United States is born with Down syndrome, meaning that approximately 5,000 parents receive the diagnosis for their child each year. Of the mothers who receive the diagnosis, about 12.5 percent find out before birth, suggesting that 625 newborn infants with Down syndrome will be diagnosed prenatally each year.

All pregnant women over the age of 35 are now offered prenatal testing for Down syndrome, and younger women are increasingly requesting such tests on their own. Typically, although not necessarily, mothers will begin with a prenatal screening test like the triple screen, quadruple screen, or the newest combination of two maternal serum markers and ultrasonographic findings. With a 5 percent false-positive rate, 69 percent of fetuses with Down syndrome are correctly detected with triple screening, 75 percent with quadruple screening, and 79 percent with the recent first-trimester screening involving two maternal serum protein markers and ultrasonographic findings.

For a definitive prenatal diagnosis, mothers have one of two options: chorionic villus sampling, typically between the 10th and 12th weeks of pregnancy or amniocentesis, typically after the 15th week of pregnancy. Neither procedure, however, is without risk; both carry an approximately 0.35 percent to 0.30 percent additional chance of causing a spontaneous miscarriage.

Changes in diet and lifestyle may help prevent infertility

November 1, 2007

Women who followed a combination of five or more lifestyle factors, including changing specific aspects of their diets, experienced more than 80 percent less relative risk of infertility due to ovulatory disorders compared to women who engaged in none of the factors, according to a paper published in the Nov. 1 issue of Obstetrics & Gynecology. The study was led by researchers at the Harvard School of Public Health (HSPH) and did not examine risk associated with other kinds of infertility, such as low sperm count in men.

“The key message of this paper is that making the right dietary choices and including the right amount of physical activity in your daily life may make a large difference in your probability of becoming fertile if you are experiencing problems with ovulation,” said Walter Willett, senior author and chair of the HSPH Department of Nutrition. The lead author is Jorge Chavarro, research fellow in the HSPH Department of Nutrition. Both scientists have earned MDs and have appointments at Harvard Medical School.

Infertility affects one in six couples, according to studies in the United States and Europe. Ovulatory problems have been identified in 18 to 30 percent of those cases.

The researchers followed a group of 17,544 married women who were participants in the Nurses’ Health Study II based at the Brigham and Women’s Hospital. The team devised a scoring system on dietary and lifestyle factors that previous studies have found to predict ovulatory disorder infertility. Among those factors were:

The ratio of mono-unsaturated to trans fats in diet
Protein consumption (derived from animals or vegetables)
Carbohydrates consumption (including fiber intake and dietary glycemic index)
Dairy consumption (low- and high-fat dairy)
Iron consumption
Multivitamin use
Body mass index (BMI, weight in kilograms divided by the square of height in meters)
Physical activity

The researchers assigned a “fertility diet” score of one to five points. The higher the score, the lower the risk of infertility associated with ovulatory disorders.

The women with the highest fertility diet scores ate less trans fats and sugar from carbohydrates, consumed more protein from vegetables than from animals, ate more fiber and iron, took more multivitamins, had a lower body mass index (BMI), exercised for longer periods of time each day, and, surprisingly, consumed more high-fat dairy products and less low-fat dairy products. The relationship between a higher “fertility diet” score and lesser risk for infertility was similar for different subgroups of women regardless of age and whether or not they had been pregnant in the past.

Said Chavarro, “We analyzed what happens if you follow one, two, three, four, or more different factors. What we found was that as women started following more of these recommendations their risk of infertility dropped substantially for every one of the dietary and lifestyle strategies undertaken. In fact, we found a sixfold difference in ovulatory infertility risk between women following five or more low-risk dietary and lifestyle habits and those following none.”