What are the guideline sources, guidelines and references for Sickle cell disease ?
Guideline sources The following summarized guidelines for the evaluation and management of sickle cell disease (SCD) are prepared by our editorial team based on guidelines from the American Society of Hematology (ASH 2020) and the National Heart, Lung, and Blood Institute (NHLBI 2014). 1 2 3 4 4 5 5 6 7 Definition SCD is an autosomal recessive disorder characterized by abnormal Hgb production, resulting in chronic hemolytic anemia and end-organ damage. 3 Epidemiology SCD is caused by a mutation in the sixth amino acid of the -globin gene. Polymerization of abnormal Hgb leads to vascular occlusion and hemolytic anemia, which precipitate a cascade of pathologic events leading to vascular-endothelial dysfunction, functional nitric oxide deficiency, hypercoagulability, increased neutrophil adhesiveness, and platelet activation. 4 5 Pathophysiology In the United States, the prevalence of SCD is estimated at 30 persons per 100,000 population. 4 Disease course https://web.pathway.md/diseases/recawCzRryloCzh6H 1/6 6/24/23, 3:06 PM Sickle cell disease Pathway CNS injury is the most debilitating frequent complication of SCD and includes stroke, silent cerebral infarct, and cognitive impairment. SCD causes vasculopathy (pulmonary hypertension, priapism, and retinopathy) and progressive ischemic organ failure (renal failure, hyposplenism, liver damage, bone disease). 5 Prognosis and risk of recurrence In the United States, the median age at death is 42 years for females and 38 years for males. HSCT is the only curative treatment, but is not feasible for the vast majority of patients suffering from the disease. 6 7 Guidelines 1. Diagnostic investigations Screening for complications, stroke: as per NHLBI 2014 guidelines, obtain annual screening for stroke with transcranial Doppler, beginning at age 2 and continue until 16. B Show 5 more Screening for complications (pulmonary hypertension): perform echocardiography in persons who have symptoms or signs suggestive of pulmonary hypertension. B Screening for complications (pulmonary disease): avoid screening pulmonary function tests in asymptomatic patients. D Screening for complications (retinopathy): Refer to an ophthalmologist to perform a dilated eye examination to assess for retinopathy at 10 years of age. B Rescreen at 1-2 year intervals for persons having a normal dilated retinal exam. E Screening for complications (hepatitis C): screen for HCV infection in persons at high risk such as those with multiple transfusions, and offer 1-time screening for HCV infection to all adults born between 1945 and 1965. E Screening for complications (electrocardiogram): do not obtain screening ECG in asymptomatic patients with SCD. D Evaluation for avascular necrosis: evaluate patients for avascular necrosis by history, physical exam, radiography, and MRI as needed. B Show 2 more 2. Medical management Hydroxyurea therapy: initiate treatment with hydroxyurea in adults with sickle cell anemia who have 3 moderate-to-severe pain crises associated with SCD during a 12-month period. A Show 5 more https://web.pathway.md/diseases/recawCzRryloCzh6H 2/6 6/24/23, 3:06 PM Sickle cell disease Pathway Landmark trials: MSH In adult patients with sickle cell anemia, hydroxyurea was superior to placebo with respect to painful crises. Charache S et al. N Engl J Med. 1995 May 18. Management of nonresponse to hydroxyurea: Continue current management. Consult a SCD expert for persons not demonstrating a clinical response to appropriate doses and duration of hydroxyurea therapy. B Landmark trials: MSH In adult patients with sickle cell anemia, hydroxyurea was superior to placebo with respect to painful crises. Charache S et al. N Engl J Med. 1995 May 18. Management of acute complications, vaso-occlusive crisis: as per NHLBI 2014 guidelines, continue treatment with NSAIDs. B Show 4 more Management of acute complications, acute chest syndrome: as per NHLBI 2014 guidelines, administer intravenous cephalosporin, an oral macrolide antibiotic, supplemental oxygen (to maintain oxygen saturation > 95%), and close monitoring for bronchospasm, acute anemia, and hypoxemia. B Show 5 more Management of acute complications, stroke: as per NHLBI 2014 guidelines, consult a sickle cell expert and perform exchange transfusion. E Show 3 more Management of acute complications, splenic sequestration: as per NHLBI 2014 guidelines, provide immediate IV fluid resuscitation. B Show 3 more Management of acute complications, priapism: as per NHLBI 2014 guidelines, initiate vigorous oral or intravenous hydration and oral or intravenous analgesia in patients with an episode of priapism that lasts 4 hours. B Show 3 more Management of acute complications, acute renal failure: as per NHLBI 2014 guidelines, monitor renal function daily, including serum creatinine level, fluid intake, and fluid output. E Show 4 more https://web.pathway.md/diseases/recawCzRryloCzh6H 3/6 6/24/23, 3:06 PM Sickle cell disease Pathway Management of chronic complications, proteinuria: As per NHLBI 2014 guidelines: Initiate ACEi therapy. B Initiate ACEi therapy. B Management of chronic complications (avascular necrosis): manage avascular necrosis with analgesics and seek advice from physical therapy and orthopedic departments for assessment and follow-up. A Management of chronic complications (gallstones): Treat asymptomatic gallstones with watchful waiting. B Treat symptomatic gallstones with cholecystectomy. B Management of chronic complications, leg ulcers: as per NHLBI 2014 guidelines, treat with initial standard therapy of debridement, wet to dry dressings, and topical agents. B Show 4 more Management of pain (acute pain): obtain rapid (within 1 hour of emergency department arrival) assessment and administer analgesia with frequent reassessments (every 30-60 minutes) to optimize pain control in adult and pediatric patients with SCD presenting to an acute care setting with acute pain related to SCD. B Show 7 more Management of pain (chronic pain): Consider using the following medications as options for the management, in the context of a comprehensive disease and pain management plan, in adult patients with SCD having chronic (as opposed to episodic) pain from the SCD-related identifiable cause of avascular necrosis of bone: nonsteroidal anti-inflammation drugs duloxetine, and other SNRIs. C Show 7 more 3. Therapeutic procedures Indications for transfusion: initiate transfusion. A Show 2 more Indications for long-term exchange transfusions: Initiate a program of monthly transfusions in children and adults with SCD who have had an acute stroke. B Initiate a program of monthly transfusions in children and adults who have had an acute stroke. B Management of long-term exchange transfusion: perform serial assessment of iron overload. B Show 2 more Technical aspects of transfusion: match RBC units for C, E, and K antigens. B https://web.pathway.md/diseases/recawCzRryloCzh6H 4/6 6/24/23, 3:06 PM Sickle cell disease Pathway Show 5 more 4. Perioperative care Prophylactic perioperative transfusions: transfuse RBCs to increase the Hgb level up to 10 g/dL prior to surgical procedures involving general anesthesia. B Show 3 more 5. Preventative measures Immunizations: administer 1 dose of pneumococcal conjugated 13-valent vaccine. E Show 2 more Prevention of invasive pneumococcal disease: administer oral penicillin prophylaxis (125 mg PO BID in patients < 3 years of age; 250 mg PO BID in patients 3 years of age) until 5 years of age in patients with homozygous Hgb S disease. B Show 2 more 6. Follow-up and surveillance Indications for referral (neurologist): refer children with conditional or elevated transcranial Doppler results, to a specialist with expertise in long-term transfusion therapy aimed at stroke prevention. A Indications for referral (nephrologist): refer persons with proteinuria (> 300 mg/day) to a nephrologist for further evaluation. B Indications for referral, ophtalmologist: As per NHLBI 2014 guidelines: Refer patients with proliferative sickle retinopathy to an ophthalmologist for evaluation and possible laser photocoagulation therapy. B Refer children and adults with vitreoretinal complications of proliferative sickle retinopathy refractory to medical treatment for evaluation and possible vitrectomy by an ophthalmologist. B Indications for referral (urologist): ask a SCD specialist and urologist for evaluation and therapy of recurrent or stuttering priapism, especially when episodes increase in severity or frequency. B References 1. Yawn BP, Buchanan GR, Afenyi-Annan AN et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA. 2014 Sep 10;312 10 1033 48. Open https://web.pathway.md/diseases/recawCzRryloCzh6H 5/6 6/24/23, 3:06 PM Sickle cell disease Pathway 2. Amanda M Brandow, C Patrick Carroll, Susan Creary et al. American Society of Hematology 2020 guidelines for sickle cell disease: management of acute and chronic pain. Blood Adv. 2020 Jun 23;4 12 2656 2701. Open 3. Meremikwu MM, Okomo U. Sickle cell disease. BMJ Clin Evid. 2016 Jan 22;2016. pii: 2402. Open 4. Strouse J. Sickle cell disease. Handb Clin Neurol. 2016;138 311 24. Open 5. Piel FB, Steinberg MH, Rees DC. Sickle Cell Disease. N Engl J Med. 2017 Apr 20;376 16 1561 1573. Open 6. Lanzkron S, Carroll CP, Haywood C Jr. Mortality rates and age at death from sickle cell disease: U.S., 1979 2005. Public Health Rep. 2013 Mar-Apr;128 2 110 6. Open 7. Azar S, Wong TE. Sickle Cell Disease: A Brief Update. Med Clin North Am. 2017 Mar;101 2 375 393. Open 8. M. R. DeBaun, L. C. Jordan, A. A. King et al. American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults. Blood Adv. 2020 Apr 28; 4 8 1554 1588. Open 9. P S Bellet, K A Kalinyak, R Shukla et al. Incentive spirometry to prevent acute pulmonary complications in sickle cell diseases. N Engl J Med. 1995 Sep 14;333 11 699 703. Open 10. Anand Padmanabhan, Laura Connelly-Smith, Nicole Aqui et al. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue. J Clin Apher. 2019 Jun;34 3 171 354. Open 11. Julie Kanter, Robert I Liem, Fran oise Bernaudin et al. American Society of Hematology 2021 guidelines for sickle cell disease: stem cell transplantation. Blood Adv. 2021 Sep 28;5 18 3668 3689. Open 12. Barbara J Bain, Yvonne Daniel, Joan Henthorn et al. Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline. Br J Haematol. 2023 Jun;201 6 1047 1065. Open https://web.pathway.md/diseases/recawCzRryloCzh6H 6/6