Welcome to Sickle Cell Disease by Connie Martin, MS, RDN; Lolita McLean, MPH, RDN; and Claire Stephens, MS, RDN of the Alabama Department of

Transcription

1 Welcome to Sickle Cell Disease by Connie Martin, MS, RDN; Lolita McLean, MPH, RDN; and Claire Stephens, MS, RDN of the Alabama Department of Rehabilitation Services, Children s Rehabilitation Service. 1

2 At the conclusion of this presentation, participants will be able to to: describe the characteristics, types, and prevalence of sickle cell disease (SCD); explain the complications and treatment of SCD; discuss the nutritional implications of SCD including micro and macronutrient needs, vitamins and minerals, and proper growth; and conduct a nutritional assessment for SCD. 2

3 Sickle Cell Disease is the term used for a group of inherited red blood cell disorders. In Sickle Cell Disease, the red blood cells become hard and sticky and take on the shape of a c-shaped farm tool called a "sickle. Normal red blood cells live days, but sickle cells only live days, leading to a shortage of red blood cells. Sickle cells travel through the small blood vessels where they get stuck and clog blood flow. This leads to pain and other serious problems such as infection, acute chest syndrome (which has the same symptoms as pneumonia), and stroke. 3

4 In this illustration, you can see how the sickle-shaped red blood cells tend to cascade together and pop causing pain. In infants this pain results from the swelling of hands and feet. However, as a child ages, pain becomes more common in the arms, legs, chest, and ribs. Generally, the severity of painful episodes increase as a child becomes older. 4

5 There are different forms of Sickle Cell Disease. Hemoglobin SS is the form of Sickle Cell Disease that is commonly referred to as Sickle Cell Anemia. In Hemoglobin SS, the patient inherits 2 sickle cell S genes, 1 from each parent. This is the more severe form of Sickle Cell Disease. Hemoglobin SC is a milder form of Sickle Cell Disease. In Hemoglobin SC, the patient inherits 1 sickle cell S gene from 1 parent and 1 abnormal hemoglobin C gene from the other parent. 5

6 Hemoglobin S Beta Thalassemia is another form of Sickle Cell Disease where the patient inherits 1 sickle cell S gene from 1 parent and 1 beta thalassemia gene (causing another type of anemia) from the other parent. In addition, there are 2 types of Hemoglobin S Beta Thalassemia: 0 (absent beta 0 ), the more severe form, and + (reduced beta + ), the milder form. 6

7 The rarer forms of Sickle Cell Disease include Hemoglobin SD, Hemoglobin SE, and Hemoglobin SO. With these forms of Sickle Cell Disease, the patient inherits 1 sickle cell S gene from 1 parent and 1 abnormal type of hemoglobin gene ( D, E, or O ) from the other parent. The severity of these rarer types of Sickle Cell Disease varies. 7

8 Sickle Cell Trait occurs when the patient inherits 1 sickle cell gene from 1 parent and 1 normal gene from the other parent. Those with Sickle Cell Trait usually do not have Sickle Cell Disease, but they can pass the trait onto their children. If both parents have Sickle Cell Trait, there is a 50% chance that their child will have Sickle Cell Trait, a 25% chance that their child will have Sickle Cell Disease, and a 25% chance that their child will not have any blood disorder. If 1 parent has Sickle Cell Trait, there is a 50% chance that their child will have Sickle Cell Trait and a 50% chance that their child will not have Sickle Cell Trait. 8

9 This slides provides a visual illustration of the scenario discussed in the previous slide, where both parents have Sickle Cell Trait (or AS ). In this scenario, there is a 50% chance that their child will have Sickle Cell Trait ( AS ), a 25% chance that their child will have Sickle Cell Disease ( SS ), and a 25% chance that their child will not have any blood disorder ( AA ). 9

10 You ll notice by this slide that, globally, Sickle Cell Disease is concentrated in Africa, Mediterranean Europe, the Middle East, some regions of India, the Caribbean, and South and Central America. In these regions, the sickle cell gene frequency is 10% to 30%. In Africa, there are 200,000 new cases of Sickle Cell Disease each year. Interestingly, people with Sickle Cell Disease have some degree of immunity to malaria. Through the years, changes have occurred in the genetics of the people living in these regions, allowing them to adapt to and survive the malaria disease. 10

11 In the United States, Sickle Cell Disease affects more than 70,000 African- Americans and 1 in 375 newborns. The CDC states that Sickle Cell Disease affects an estimated 80,000 to 100,000 Americans. In the United Kingdom, Sickle Cell Disease affects 1 in 2,400 live births across ethic groups, and more than 12,000 individuals are living with Sickle Cell Disease in the UK. This makes Sickle Cell Disease the most common and fastest growing genetic disorder in the United Kingdom. 11

12 Sickle Cell Disease can be diagnosed via newborn screening tests at the hospital. It can be diagnosed before birth, as well. Early diagnosis is important because of the increased risk of infection and other health problems that Sickle Cell Disease carries with it. The symptoms of Sickle Cell Disease usually show up at around five months of age, and the symptoms and complications of Sickle Cell Disease are different for each person. 12

13 The treatment options for Sickle Cell Disease differ by person, depending on his or her symptoms. Hydroxyurea is commonly used to reduce the rate of painful attacks, as it breaks down cells that are prone to sickle and increases fetal hemoglobin content. Is there a cure for Sickle Cell Disease? Bone marrow or stem-cell transplants exist, though these are typically only done in cases of severe Sickle Cell Disease in children who have only minimal organ damage from the disease. 13

14 There are many different potential complications associated with Sickle Cell Disease. In the top right corner of this slide, a picture of an infant with hand-foot syndrome is displayed. In hand-foot syndrome, blood vessels are packed with sickle cells, causing anemia and swelling in the capillaries. Iron supplementation does not help sickle cell anemia. In fact, it can cause liver damage in people with sickle cell anemia. Infection is another complication of Sickle Cell Disease, as is Acute Chest Syndrome, which has the same symptoms as pneumonia. In splenic sequestration, blood vessels in the spleen cause the spleen to become enlarged. There can also be vision loss with Sickle Cell Disease. Leg ulcers typically occur in the lower extremities of males between 10 and 50 years of age. In the lower right corner of this slide, a picture of a young man with a leg ulcer is displayed. Stroke is also a complication of Sickle Cell Disease. 14

15 Additional complications of Sickle Cell Disease include deep vein thrombosis and pain episodes or crises. In Sickle Cell Disease, there can be damage to organs like the liver, heart, or kidneys; damage to tissues or bones; gall stones; priapism (or prolonged erection); malnutrition; and growth retardation. Our patients with Sickle Cell Disease have an incredibly difficult road to travel! 15

16 On this slide are the most common factors that trigger pain crises in Sickle Cell Disease. We, as nutritionists, as well as other medical professionals working with people with Sickle Cell Disease, should be aware of these factors, and these factors should be topics for patient education. Dehydration is a big trigger that will put a child with Sickle Cell Disease into sickle cell crisis. High altitudes can do the same thing. Which city is known as the Mile-High City? Denver! Denver is perhaps not the best place for someone with Sickle Cell Disease to visit. Increased atmospheric pressure can trigger a pain crisis. Scuba diving probably doesn't belong on the bucket list of a person with Sickle Cell Disease. As low air oxygen levels can trigger a crisis, flying in planes and traveling in general can be very complicated for those with Sickle Cell Disease. 16

17 Nutrition-related standards of practice for hemoglobinopathies are limited; more information is needed. Much of the information to follow in this presentation comes from a presentation provided on Nutritional Counseling and Dietetics Practice in Sickle Cell Disease by Jean Ann Olds, MS, RD on August 24 th, 2010 for the Nutrition and Hemoglobinopathies Working Group at the National Institutes of Health. The presentation contained an enormous amount of helpful information, and a link to the entire presentation has been provided at the bottom of this slide. The majority of slides that follow reference some aspect of that presentation. 17

18 In the most severe forms of Sickle Cell Disease and Thalassemia, the overall nutrition picture includes an increased resting energy expenditure. These kids need more calories than most other kids. There is also the presence of increased protein turnover, resulting in increased protein needs. This increase is thought to be due to hyperactive bone marrow in chronic hemolysis. These patients also have increased bone resorption; deficiencies in vitamins, minerals, and trace elements; decreased bone-mineral density; and amino-acid deficiencies. Sickle Cell Disease and bone health are discussed at greater length in a subsequent slide. 18

19 Poor growth is usually seen in Sickle Cell Anemia, likely secondary to poor utilization and delivery of nutrients. Low Z Scores typically include weight, height, arm circumference, upper arm fat, muscle area, and growth difference. Often, a reduction in height and weight is seen by 2 years of age. Pre-pubertal growth spurts tend to be delayed, and there is a trend towards increasing deficits with increasing age. 19

20 In comparison to Center for Disease Control and Prevention norms, males with Sickle Cell Disease are 3 times more likely to be underweight in adolescence while females with Sickle Cell Disease are 3 times more likely to be obese in adolescence. The Body Mass Index attained in adolescence can be predicted by sex, average weight in childhood, and the number of emergency department visits the child has experienced. 20

21 Significant increases in bone turnover have been documented in adolescents with Sickle Cell Disease. Osteoporosis is consider by some a major public health problem in patients with Sickle Cell Disease. In a 2007 study of 103 patients with Sickle Cell Disease by Serrai et al, the prevalence of low Bone Mineral Density was 79.6%. Having a higher Body Mass Index decreased the likelihood of developing low Bone Mineral Density. Low hemoglobin levels are the strongest predictors of low Bone Mineral Density in Sickle Cell Disease. Also, patients with low Bone Mineral Density tend to have low Vitamin D levels and low serum zinc levels, as well. 21

22 A 2000-calorie intake study in 2007 by Kawchak et al showed that patients with Sickle Cell Disease consumed 39% of normal kilocalories for age during admissions for pain crises. 2 to 6 weeks after the pain crises, their intake only improved to 80% of normal kilocalories for age. Clearly, these folks weren t eating much and didn t feel well! The more pain crises they experienced, the poorer their intake and the poorer their nutrition status. So, a major take-away from this study was that pain crises prevention is of the utmost importance. 22

23 Individuals with sickle cell tend to be smaller in stature and leaner than their peers without the disease. This is due, in part, to an increased rate of protein turnover, depleting the body of available amino acids. Of the 13 amino acid deficiencies that have been found in Sickle Cell Disease, 3 have had supplementation trials using Arginine, Glutamine, and Citrulline. 23

24 Studies in Sickle Cell Disease report deficiencies in vitamins D, E, A, C, B6 and B12 as well as deficiencies in zinc, magnesium, and omega-3 fatty acids. Multivitamin preparations containing adequate amounts of the vitamins and minerals known to be low in patients with Sickle Cell Disease do not exist. In fact, the levels of supplementation needed for all nutrients are not known. More work as been done when it comes to vitamin and mineral supplementation in Cystic Fibrosis! They Cystic Fibrosis Foundation really has a handle on vitamin A, D, E and K supplementation, and the foundation has its own set of nutrition parameters and guidelines. One day, we re hoping for the same, when it comes to guidelines for the care of those with Sickle Cell Disease. At this point, those guidelines don t exist. 24

25 Vitamin A status in patients with Sickle Cell Disease is known to be suboptimal. A 2004 study by Schall et al documented less than 30 micrograms per deciliter in 66% of the study participants. A 2012 study by Dougherty et al supplemented vitamin A at the recommended daily allowance for patients with Sickle Cell Disease and found no serum level impact. This suggests the need for a therapeutic dose. In Sickle Cell Disease, poor vitamin A status is associated with poor growth, worsening hematologic status, and increased risk of hospitalizations for Sickle Cell Disease-related events. 25

26 Numerous studies document poor vitamin C status in Sickle Cell Disease. Dietary intake of Vitamin C appears to be normal, pointing to increased utilization. Further study shows that vitamin C supplementation may reduce blood pressure, increase packed cell volume, increase hemoglobin concentration, increase the percentage of fetal hemoglobin, reduce irreversibly sickled cells, and increase resistance of the cells to lysis. The bottom line is that people with Sickle Cell Disease need more Vitamin C! 26

27 During one particular sampling, children with Hemoglobin SS had significantly lower serum vitamin D concentrations than healthy children. The prevalence of low vitamin D was substantially higher in those with Hemoglobin SS (65%) compared with health African American children (6%) and healthy non-african American children (0%). Children with Sickle Cell Disease and low vitamin D status have been found to consume significantly less vitamin D and calcium. The deficiency is thought to derive from a combination of poor intake, dark skin pigmentation, and additional factors related to Sickle Cell Disease, such as inflammation. 27

28 A 1997 Italian study showed magnesium content in Hemoglobin SS and Hemoglobin SC erythrocytes to be reduced when compared to normal controls. Magnesium supplementation had the following results: (a) erythrocyte potassium chloride cotransport was significantly reduced, (b) there was a reduction in absolute reticulocyte count, (c) there was improved erythrocyte hydration, (d) there was a significant reduction in the number of painful episodes, and (e) there was a reduction in the number of dense sickle cell erythrocytes. This study revealed that magnesium supplementation can help to reduce the erythrocyte abnormalities that effect individuals with Sickle Cell Disease. 28

29 In a 2002 study, it was determined that patients with Sickle Cell Disease are deficient in zinc. This poor zinc status may not correlate to low serum zinc measurements. Prepubertal children given 10 milligrams daily of supplemental zinc showed increased linear growth and muscle mass, even when their zinc serum levels were normal. 29

30 In a study by Tomer et al, supplementing patients with Sickle Cell Disease with 3 grams per day of menhaden fish oil decreased the frequency of pain episodes by approximately 50%. There was no associated increase in prothrombin time, and supplementation actually helped to inhibit thrombosis. Omega-3 fatty acid deficiency in Sickle Cell Disease correlates with the clinical severity of pain episodes and, therefore, has therapeutic implications, but further studies are needed. 30

31 Overall, the nutrition needs of patients with Sickle Cell Disease are greater than average for both calorie and micronutrient intake. During Sickle Cell Disease crises, energy intake is especially poor, and supplementation will more than likely be needed. The Academy of Nutrition and Dietetics recommends following a well-balanced, nutritious meal plan and drinking plenty of fluids. 31

32 A thorough nutrition assessment is obviously important patients with Sickle Cell Disease. Get a diet history. Analyze their protein sources. Since many high protein foods are also high in zinc, this will help when looking at their zinc intake. Also look at their intake of fiber, calcium, fruits, and vegetables. Make sure they're not eating junk foods. Junk foods will not provide the vitamins and minerals they need, and they need a lot more vitamins and minerals than those without Sickle Cell Disease. Find out if they ve ever been on a vitamin or mineral supplement and, if they have, see if they are still following that protocol. Have they been on any type of nutritional supplements in the past that need to be reinstated? Have they ever had a feeding tube? Some patients with Sickle Cell Disease use feeding tubes as a means of gaining the additional nutrition and energy needed. What is their history of fluid intake? What is their history of Sickle Cell crises? How many crisis episodes have they had and when was their last episode? Do they understand what causes their episodes and are they doing anything to prevent them? Take their anthropometric measurements and look closely at their energy, protein, and fluid needs. 32

33 This slide shows modified resting energy expenditure calculations from the World Health Organization for boys and girls with Sickle Cell Disease ages 3 to 10 years. These modified equations predict the energy needs of these children with much more accuracy than previous equations. 33

34 Equations developed at St. Jude are used for calculation of resting energy expenditure, including factor for the patient s usual hemoglobin. Energy is then recommended at 1.5 to 1.75 times the Sickle Cell Disease resting energy expenditure calculation. Protein is assessed at 1.5 times the recommended daily allowance, due to increased protein turnover. It should be noted that most patients with Sickle Cell Disease already have a protein intake of over 2 times the recommended daily allowance. 34

35 Fluid is the most important basic element of diet assessment. It is recommended that fluid intake for those with Sickle Cell Disease be 1 to 1.5 times normal maintenance fluid for weight. Fluid hydrates red blood cells, decreases potential sickling, and decreases constipation. 35

36 This slide depicts a guide for recommended fluid intake levels, or number of 8 ounce servings per day, based on body weight in pounds. 36

37 There are some things that would be helpful for you to think through when preparing, as a dietitian, to follow a child with Sickle Cell Disease in the community clinics. Does the local hematologist have a protocol for supplementation? If so, how does the protocol compare to the hematologist s at the hospital where the child was treated as an inpatient? This is assuming, of course, that these two hematologists are different people. Become very familiar with the protocol and incorporate it into your nutrition counseling. Develop a line of communication with the hospital dietitian so that, upon discharge, you will be sent the orders for the children whom you expect to follow in clinic. Try to especially maximize your impact on younger patients (those younger than 12 years of age) so that they're really getting into the practice of understanding their disease, taking ownership of their disease, and taking care of themselves. 37

38 Build a file of nutrition education materials to help your patients with Sickle Cell Disease. Include in that file handouts on fluid intake; Folate, Calcium, Vitamin D, and Vitamin E intake; food sources high in protein; high-calorie sample menus; and milkshake and smoothie recipes. 38

39 This slide lists some commonly consumed foods and beverages that are generally NOT recommended for those with Sickle Cell Disease. Beverages with caffeine like tea, coffee, and soft drinks are not recommended. Caffeine has a dehydrating effect. For the same and other reasons, counsel your patients to avoid alcohol. This is one of the times when you do not promote low-calorie, fatfree, or reduced-fat foods, but it is the perfect time to promote an avoidance of junk foods, which do not provide the necessary nutrition. 39

40 More nutrition research is needed. Dietitians need guidelines for routinely determining nutrient needs and guidelines regarding the provision of nutrients known to be deficient in SCD! 40

41 This slide, and the following slide, contains several helpful references when caring for patients with Sickle Cell Disease and the references for studies referred to during this presentation. 41

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