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Diamond Blackfan

ANCC ❘ AACN 1.5 Contact Hours Living With Diamond Blackfan Anemia A Challenge Toward Survival

Sandy Brannan, MSN, RN

As the world of medicine and nursing advance, children with once terminal child- hood diseases are now surviving into young adulthood. Nurses must learn to care for pediatric patients who transition to adulthood. This article explores Diamond Blackfan Anemia, once considered a terminal childhood disease that can now be a disease of young adulthood. Keyword: Diamond Blackfan Anemia.

[DIMENS CRIT CARE NURS, 23(1): 4-9]

Recently, I met a miracle even though I had known 1. normochromic presenting within about this miracle for the past 2 years. A student asked the first 12 months of life me if I had any idea what Diamond Blackfan Anemia 2. profound (DBA) was. Luckily, I had the answer. I had recently 3. normocellular marrow with a selective marked defi- cared for a patient named “Chris” who had DBA on the ciency of red cell precursors nursing unit the night before when he had been admit- 4. increased serum levels of erythropoietin ted for a monthly blood transfusion. The admitting 5. normal or slightly decreased white cell counts physician had given the nursing staff an inservice on 6. normal or increased count.3 DBA and the course of treatment that had been success- ful for Chris. Patients with DBA exhibit a higher rate of This article will present the disease process of DBA and hemolytic malignancies than the general population.2 and a case study of Chris who was diagnosed with DBA DBA must be distinguished from Fanconi Anemia. at 3 months of age and who is now 22 years old. Fanconi Anemia is an inherited anemia that leads to failure (). Both parents will carry THE DISEASE the Fanconi Anemia gene and 25% of the children are at DBA is a red cell aplasia, usually diagnosed within the risk for developing the anemia. Cell count abnormalities first year of life. The anemia was named by Dr. Diamond are not limited to only red cells, but include white cells and Dr. Blackfan in 1935. DBA has been referred to as and . Many patients with Fanconi Anemia will congenital hypoplastic anemia or inherited marrow fail- develop acute myelogenous leukemia.4 ure syndrome. DBA can be a congenital disease or can be caused by mutation in the gene encoding ribosomal pro- CLINICAL FEATURES tein S19 on chromosome 19 or chromosome 8.1 Most Children with DBA appear to be normal, healthy cases of DBA occur randomly; however, 10% are auto- infants at birth. Males and females are affected equally. somal dominant or (less frequently) autosomal recessive.2 This disease occurs in approximately 1 in 10,000 chil- DBA has been referred to as congenital hypoplastic dren. Women who are pregnant with a child who has anemia or inherited marrow failure syndrome. There DBA are at increased risk for stillbirths or miscarriages. are six diagnostic criteria of DBA: Approximately 10% of the mothers of infants with

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disease, congestive heart failure, , Table 1 Complications That Can Occur From DBA or Treatment of DBA hepatomegaly, leukemia, and thyomams. Table 1 demonstrates several frequent complications of DBA. Thrombocytopenia Leukocytosis Steroid-induced Cushing’s syndrome pneumocystis carinii pneumonia TREATMENT Cold or warm agglutinins transfusion reactions There are multiple combinations of therapy used for children with DBA. They include blood transfusion, Immunosuppression leukemia—ALL, AML corticosteroids, iron chelating therapy, bone marrow Thyomams diabetes mellitus transplantation, and interleukin therapy. Some children Myocardial disease congestive heart failure have successfully entered into remission and remained Hepatosplenomegaly in remission. However, others have attained remission only to relapse. Initially, a full red cell phenotype is ALL, acute lymphocytic leukemia; AML, acute myelogenous leukemia. obtained. Transfusions are used to maintain hemoglo- bin levels during a complete hematological assessment. DBA have pregnancy-induced hypertension, premature Prior to the initial transfusion a full red cell pheno- separation of the placenta, or a breech presentation. type is started. Should corticosteriods be ineffective or Intrauterine growth retardation has been found in toxic to the patient, transfusion therapy will be used. Ͼ10% of reported patients.3 Most children with DBA Transfusion therapy is not without the risks of Hepati- are Caucasian; however, DBA has been recognized in tis B and C, with the cytomegalovirus, iron several ethnic groups, including African Americans, overloads resulting in growth retardation, diabetes mel- Middle Easterners, East Indians, and persons of Japan- litus, hypoparathyroidism, and eventually liver cirrho- ese origin. Pregnancy and birth histories are abnormal sis and cardiac failure. These risks can be prevented or in approximately 10% of these mothers. delayed by adding an iron chelator to the transfusion Approximately 40% of the patients present with regimen. one or more congenital defects.5 Most of these abnor- One choice is Deferoxamine (Desferal) which is malities belong to the following categories: given 5 to 7 times per week over a 12-hour period. The chelating agent helps reduce iron in the hemoglobin 1. craniofacial dysmorphism including , from attaching to the heart and lungs thereby decreas- congenital cataract or glaucoma, strabismus, and a ing contractility and expansion of these organs. As a high-arched palate or cleft palate general rule, the iron chelator is given after the third 2. prenatal or postnatal growth failure, independent of year of life to reduce changes in the growth pattern. steroid therapy 3. neck anomalies (eg, fusion of the cervical vertebrae with flaring of the trapezius muscle [Klippel-Feil syn- Approximately 40% of the drome] giving a Turner’s syndrome appearance 4. thumb malformations patients present with one or more 5. weak or absent radial pulses.5.6 congenital defects. Certain facial characteristics often appear in chil- dren with DBA. The facial characteristics may consist of tow-colored hair (extremely blonde, almost white), a One of the most successful treatments has been the snub nose, wide-set eyes, and thick upper lip. In addi- use of corticosteroids. Patients respond to steroid ther- tion, the head can be small with almond-shaped eyes apy 50% to 75% of the time.3 Generally oral pred- and a pointed chin.3,7 Various other anomalies can also nisone is administered. Once remission begins, the pred- be observed in children with DBA, such as horseshoe nisone is tapered off and the patient is maintained on a kidneys, duplication of ureters, ventricular and atrial small maintenance dose or completely tapered off. septal defects, hypogonadism, ear malformations, blue Remission may be maintained for long periods with lit- sclera, mental retardation, congenital hip dislocation, tle or no steroid therapy. Relapses may be precipitated or tracheoesophageal fistula.5 by pregnancy, use of oral contraceptives, or an infec- tious process. Certain patients develop a resistance to COMPLICATIONS corticosteroid therapy. Many complications can occur in young adults and may Patients may respond to high doses of methylpred- result in death by the end of the second decade of life. nisolone given intravenously (IV) or orally. Side-effects are Significant complications include ischemic myocardial typical of those commonly found in steroid administra-

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Diamond Blackfan Anemia

tion such as hyperglycemia, oral moniliasis, bacteremia effect on his disease. Chris was also on an interleukin related to central venous access, and weight gain.3 protocol requiring daily injections. However, after sev- Bone marrow transplantation is attempted on a eral weeks Chris developed an allergic reaction to the case-by-case basis due to increased mortality rates. drug and had to be withdrawn from the protocol. transplantation holds some Later, after his hematologist relocated, Chris was promise although research is still ongoing for this pro- transferred to large university children’s hospital. An cedure for this disease process. Genetic mapping must advanced nurse practitioner (NP) working at the chil- be done on cord blood stem cell transplantation to dren’s hospital became his case manager. Interestingly, determine if the donor is a silent carrier of DBA. Identi- this NP had been a student nurse on a pediatric rotation cally matched siblings who undergo cord blood stem during which time she initially met Chris. When Chris transplantation have the highest rate of remission and had a question or needed information about a health- the least amount of complications. related issue he would ask the NP. He would call her before calling his physician. “She made things so much DIETARY RESTRICTIONS easier for me and I can always trust her.” During the Most types of anemia require that patients eat foods rich hospital stay, the NP and Chris developed a strong in iron. However, this is not true with DBA. Patient’s bond, which strengthened their relationship. intake of red meat, many green leafy vegetables, and Vit- amin C is restricted. The patients are able to eat poultry and fish. Chris said eating a balanced diet is very hard to When asked what made him do, but “I still like a Big Mac now and then.” angry he said, “The attitude CASE STUDY of many physicians.” Chris is a 22-year-old white male. He is approximately 5’6” and weighs approximately 130 pounds. He has two younger brothers, both of whom are healthy and active. He was diagnosed with DBA at the age of 3 In the third grade Chris developed pneumocystis months. Chris appeared to be a normal, healthy baby carinii pneumonia. He described his lungs as having at the time of birth. His mother was at the store and he “black spots.” He spent 1 week in the pediatric inten- was in the infant carrier when a total stranger stopped sive care unit receiving aggressive therapy. Since that and said to his mother, “There is something wrong with time he has had no further respiratory difficulties. your baby and you need to have him checked—he’s too While in the sixth grade, Chris developed a severe pale.” Chris’s mother scheduled an appointment and case of glaucoma and had to have his left eye removed. took him to the pediatrician. The pediatrician examined Chris had an uncle who suffered from congenital glau- Chris and did a complete blood count. When he and his coma; therefore, it is not clear if the glaucoma was con- mother returned home the phone was ringing. It was the genital, related to DBA, or related to the use of corti- pediatrician. He had made arrangements to have Chris costeroids. There have been no glaucoma-related admitted to the hospital at once because the infant’s problems of the right eye. hemoglobin was 2.4 g/dl. After the initial hematological Chris remained in public school through the ninth assessment, Chris was sent to a large university teach- grade. In the tenth grade he became partially home- ing hospital for diagnosis and treatment. Chris’s mother bound due to frequent transfusions and . In said that there were no known cases of DBA in the fam- the eleventh grade he became totally homebound due to ily until Chris was born. However, her grandmother had low resistance to infection and frequent transfusions. several children who died at a very young age and the He did graduate from high school with his class. cause of death was unknown. To date, Chris has received more than 900 gallons Chris was managed for several years at the univer- of packed red blood cells. He developed hepatitis C at sity hospital. It was there he became one of the youngest the age of 15. A current liver biopsy revealed that the children in the United States to receive a port-a-cath, disease is not presently active. Chris currently lives at which he maintained for 13 years. Chris participated in home with his mother and siblings. He takes chelation a research protocol at the university facility. The therapy 5 days per week via an infusion pump. It has research protocol assessed dietary influences on DBA. been difficult to obtain employment due the daily infu- During the 3-month study Chris was fed a diet of sions. Chris is not responsive to corticosteroid therapy bacon, eggs, macaroni and cheese, ham sandwiches, and and a bone marrow transplant has been ruled out due one soda (daily). He said the change in diet had no to possible risks; his siblings are not compatible donors.

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When asked, “What is your most important prob- patients in the intensive care unit; nurses must be sensi- lem?” Chris responded, “anger Management.” When tive to the psychosocial aspects of care, as well as the asked what made him angry he said, “The attitude of physiological aspects of care. Intimacy versus isolation many Physicians.” I asked for clarification and he said, can be a difficult stage to handle under normal circum- “My life started with me being told that I wouldn’t live stances and even more difficult in the face of a chronic past the age of 5. Well, I passed 5 and the doctors illness. This is a time when life-long relationships often extended it to 9. When I passed 9 it went to 12, then to develop. Support groups can be helpful and help 18. Well, here I am, 22, and I’m still here doing pretty broaden the patient’s circle of friends and contacts. well. I wish they [the physicians] wouldn’t try to destroy hope. It’s hard to live with little hope, it makes you feel trapped.” Chris was then asked how he managed his References 1. Draptchinskaia N, Gustavson P, Anderson B, et al. The gene anger. He said that he had a great support system in the encoding ribosomal protein S19 is mutated in Diamond Black- form of his mother, family, and friends. He said his fan Anemia. Nature Genetics. 1999; 21:169-175. friends were always there. For a while he was active 2. Dianzami I, Garelli E, Ramenghi U. Diamond-Blackfan Ane- mia: An overview. Pediatric Drugs 2000. 2000; 2(5):345-355. with the youth group at a large church. Most of all he 3. Freedman M. Diamond-Blackfan Anemia. Balliere’s Clinical loves to fish. He fishes fishing three times each week. . 2000; 23(3): 391-406. With regard to future goals, Chris said, “I want to write 4. Fanconi Association. How is Fanconi anemia related to leukemia and other ? Retrieved from http://www.fan- books to help kids who are chronically ill and have to coni.org. Accessed June 1, 2003. go to the hospital. It can be a scary place and I think I 5. Willig T, Niemeyer C, LeBlanc T, et al. Identification of new could help those kids be less afraid.” prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond Blackfan anemia patients. Pedi- atric Residency. 1999; 46:553-561. CONCLUSION 6. Ball S, McGuckin C, Jenkins G, et al. Diamond Blackfan Ane- Corticosteroids and chelation therapy have increased mia in the UK: Analysis of 80 cases from a 20 year birth cohort. Brit J Hematol. 1996;94:645-653. the life expectancy and an improved quality of life for 7. Halperin D, Freedman M. Diamond Blackfan anemia: Etiol- children with DBA. The quality of life is improving for ogy, pathophysiology, and treatment. Amer J Pediatr Hema- patients who respond to corticosteroid therapy. Chelat- tol/Oncol. 1989;11:380-394. ing agents have also improved the quality of life for those who do not respond to corticosteroid therapy. As ABOUT THE AUTHOR advancements occur in gene and cord blood stem cell Sandy Brannan, MSN, RN, is an Assistant Professor of Nursing at research, the quality of life and life expectancy of Lamar University in Beaumont, Texas, and a doctoral student at Texas patients with DBA will hopefully increase. Until those Women’s University in Houston, Texas. She has an extensive back- advancements are reality, nursing must help those ground in Medical/Surgical and Intensive Care Nursing. patients who transition from pediatrics to young adult- The author has no conflict of interest. hood make that transition as smooth as possible. Address correspondence and reprint requests to Sandy Brannan, MSN, Nurses may find that patients with DBA who develop RN, Lamar University, Department of Nursing, PO Box 10081, 4400 cardiovascular diseases and malignancies are frequently MLK Parkway, Beaumont, TX 77710 ([email protected]).

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