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Internal and Emergency Medicine

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05.08.2019 | IM - REVIEW

Sickle cell disease: a review for the internist

verfasst von: Valeria Maria Pinto, Manuela Balocco, Sabrina Quintino, Gian Luca Forni

Erschienen in: Internal and Emergency Medicine | Ausgabe 7/2019

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Abstract

Sickle cell disease (SCD) is the most important hemoglobinopathy worldwide in terms of frequency and social impact, recently recognized as a global public health problem by the World Health Organization. It is a monogenic but multisystem disorder with high morbidity and mortality. Vaso-occlusion, hemolytic anemia and vasculopathy are the hallmarks of SCD pathophysiology. This review focuses both on “time-dependent” acute clinical manifestations of SCD and chronic complications commonly described in adults with SCD. The review covers a broad spectrum of topics concerning current management of SCD targeted at the internists and emergency specialists who are increasingly involved in the care of acute and chronic complications of SCD patients.

Ware RE, de Montalembert M, Tshilolo L, Abboud MR (2017) Sickle cell disease. Lancet 390:311–323. https://doi.org/10.1016/S0140-6736(17)30193-9 CrossRefPubMed

Rees DC, Williams TN, Gladwin MT (2010) Sickle-cell disease. Lancet 376:2018–2031. https://doi.org/10.1016/S0140-6736(10)61029-X CrossRefPubMed

Eaton WA, Hofrichter J (1990) Sickle cell hemoglobin polymerization. Adv Protein Chem 40:63–279CrossRefPubMed

De Franceschi L, Cappellini M, Olivieri O (2011) Thrombosis and sickle cell disease. Semin Thromb Hemost 37:226–236. https://doi.org/10.1055/s-0031-1273087 CrossRefPubMed

Ballas SK, Smith ED (1992) Red blood cell changes during the evolution of the sickle cell painful crisis. Blood 79:2154–2163CrossRefPubMed

Vinchi F, De Franceschi L, Ghigo A et al (2013) Hemopexin therapy improves cardiovascular function by preventing heme-induced endothelial toxicity in mouse models of hemolytic diseases. Circulation 127:1317–1329. https://doi.org/10.1161/CIRCULATIONAHA.112.130179 CrossRefPubMed

Manwani D, Frenette PS (2013) Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies. Blood 122:3892–3898. https://doi.org/10.1182/blood-2013-05-498311 CrossRefPubMedPubMedCentral

Hebbel RP (2008) Adhesion of sickle red cells to endothelium: myths and future directions. Transfus Clin Biol 15:14–18. https://doi.org/10.1016/j.tracli.2008.03.011 CrossRefPubMed

Silvestroni E, Bianco I (1952) Genetic aspects of sickle cell anemia and microdrepanocytic disease. Blood 7:429–435CrossRefPubMed

10.

Higgs DR, Aldridge BE, Lamb J et al (1982) The interaction of alpha-thalassemia and homozygous sickle-cell disease. N Engl J Med 306:1441–1446. https://doi.org/10.1056/NEJM198206173062402 CrossRefPubMed

11.

Serjeant GR, Vichinsky E (2018) Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors. Blood Cells Mol Dis 70:66–77. https://doi.org/10.1016/j.bcmd.2017.06.004 CrossRefPubMed

12.

Pecker LH, Naik RP (2018) The current state of sickle-cell trait: implications for reproductive and genetic counseling. Blood. https://doi.org/10.1182/blood-2018-06-848705 CrossRefPubMedPubMedCentral

13.

Modell B (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008:480–487. https://doi.org/10.2471/BLT.06.036673 CrossRef

14.

Weatherall DJ, Clegg JB (2001) Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 79:704–712PubMedPubMedCentral

15.

Piel FB, Patil AP, Howes RE et al (2013) Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet 381:142–151. https://doi.org/10.1016/S0140-6736(12)61229-X CrossRefPubMedPubMedCentral

16.

Aguilar Martinez P, Angastiniotis M, Eleftheriou A et al (2014) Haemoglobinopathies in Europe: health and migration policy perspectives. Orphanet J Rare Dis 9:97. https://doi.org/10.1186/1750-1172-9-97 CrossRefPubMedPubMedCentral

17.

Cao A, Galanello R, Rosatelli MC et al (1996) Clinical experience of management of thalassemia: the Sardinian experience. Semin Hematol 33:66–75PubMed

18.

Giambona A, Damiani G, Vinciguerra M et al (2015) Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis. Int J Clin Pract 69:1129–1138. https://doi.org/10.1111/ijcp.12628 CrossRefPubMed

19.

Russo-Mancuso G, Romeo MA, Guardabasso V, Schilirò G (1998) Survey of sickle cell disease in Italy. Haematologica 83:875–881PubMed

20.

Rigano P, De Franceschi L, Sainati L et al (2018) Real-life experience with hydroxyurea in sickle cell disease: a multicenter study in a cohort of patients with heterogeneous descent. Blood Cells Mol Dis 69:82–89. https://doi.org/10.1016/j.bcmd.2017.08.017 CrossRefPubMed

21.

De Franceschi L, Lux C, Piel FB et al (2019) Access to emergency department for acute events and identification of sickle cell disease in refugees. Blood. https://doi.org/10.1182/blood-2018-09-876508 CrossRefPubMedPubMedCentral

22.

Quinn CT, Rogers ZR, McCavit TL, Buchanan GR (2010) Improved survival of children and adolescents with sickle cell disease. Blood 115:3447–3452. https://doi.org/10.1182/blood-2009-07-233700 CrossRefPubMedPubMedCentral

23.

Gardner K, Douiri A, Drasar E et al (2016) Survival in adults with sickle cell disease in a high-income setting. Blood 128:1436–1438. https://doi.org/10.1182/blood-2016-05-716910 CrossRefPubMed

24.

Thein SL, Howard J (2018) How I treat the older adult with sickle cell disease. Blood 132:1750–1760. https://doi.org/10.1182/blood-2018-03-818161 CrossRefPubMedPubMedCentral

25.

Platt OS, Brambilla DJ, Rosse WF et al (1994) Mortality in sickle cell disease—life expectancy and risk factors for early death. N Engl J Med 330:1639–1644. https://doi.org/10.1056/NEJM199406093302303 CrossRefPubMed

26.

Manci EA, Culberson DE, Yang Y-M et al (2003) Causes of death in sickle cell disease: an autopsy study. Br J Haematol 123:359–365CrossRefPubMed

27.

Forni GL, Balocco M, Casale M, et al (2018) Algoritmo per la gestione in pronto soccorso degli eventi acuti nei pazienti affetti da Anemia Falciforme. In: Collana Scientifica SITE. https://www.site-italia.org/file/Triage_SCD.pdf. Accessed 25 Feb 2019

28.

Forni GL, Finco G, Graziadei G et al (2014) Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department. Orphanet J Rare Dis 9:91. https://doi.org/10.1186/1750-1172-9-91 CrossRefPubMedPubMedCentral

29.

De Franceschi L, Graziadei G, Rigano P et al (2014) Raccomandazioni per la gestione del paziente adulto affetto da anemia falciforne della Società Italiana Talassemie ed Emoglobinopatie—SITE. Collana Scientifica SITE 2

30.

Sickle Cell Society (2018) Standards for the clinical care of adults with sickle cell disease in the UK, 2nd edn. Sickle Cell Society, London

31.

De Montalembert M, Ferster A, Colombatti R et al (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children. Am J Hematol 86:72–75. https://doi.org/10.1002/ajh.21865 CrossRefPubMed

32.

De Franceschi L, Finco G, Vassanelli A et al (2004) A pilot study on the efficacy of ketorolac plus tramadol infusion combined with erythrocytapheresis in the management of acute severe vaso-occlusive crises and sickle cell pain. Haematologica 89:1389–1391PubMed

33.

De Franceschi L, Mura P, Schweiger V et al (2016) Fentanyl buccal tablet: a new breakthrough pain medication in early management of severe vaso-occlusive crisis in sickle cell disease. Pain Pract 16:680–687. https://doi.org/10.1111/papr.12313 CrossRefPubMed

34.

Banerjee S, Owen C, Chopra S (2001) Sickle cell hepatopathy. Hepatology 33:1021–1028. https://doi.org/10.1053/jhep.2001.24114 CrossRefPubMed

35.

Stéphan JL, Merpit-Gonon E, Richard O et al (1995) Fulminant liver failure in a 12-year-old girl with sickle cell anaemia: favourable outcome after exchange transfusions. Eur J Pediatr 154:469–471CrossRefPubMed

36.

Shao SH, Orringer EP (1995) Sickle cell intrahepatic cholestasis: approach to a difficult problem. Am J Gastroenterol 90:2048–2050PubMed

37.

Yazdanbakhsh K, Ware RE, Noizat-Pirenne F (2012) Red blood cell alloimmunization in sickle cell disease: pathophysiology, risk factors, and transfusion management. Blood 120:528–537. https://doi.org/10.1182/blood-2011-11-327361 CrossRefPubMedPubMedCentral

38.

Graziadei G, Sainati L, Bonomo P, Venturelli D, Masera N, Casale M et al., Graziadei G, Sainati L, et al (2018) Transfusion therapy in a multi-ethnic sickle cell population real-world practice. A preliminary data analysis of multicentre survey. In: 60th Am. Soc. Hematol. Annu. Meet. 2018. https://ash.confex.com/ash/2018/webprogram/Paper115938.html. Accessed 25 Feb 2019CrossRef

39.

Bonomo P, Carta M, Forni G et al (2014) Raccomandazioni per le strategie trasfusionali nelle Emoglobinopatie. Collana Scientifica SITE

40.

Emond AM, Collis R, Darvill D et al (1985) Acute splenic sequestration in homozygous sickle cell disease: natural history and management. J Pediatr 107:201–206CrossRefPubMed

41.

Ahmed N, Chizhevsky V (2007) Acute hepatic sequestration associated with pneumococcal infection in a 5-year-old boy with sickle β°-thalassemia. J Pediatr Hematol Oncol 29:720–724. https://doi.org/10.1097/MPH.0b013e31814d6866 CrossRefPubMed

42.

Telfer P, Coen P, Chakravorty S et al (2007) Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica 92:905–912. https://doi.org/10.3324/haematol.10937 CrossRefPubMed

43.

Casale M, De Franceschi L, Balocco M, et al Gestione del rischio infettivo nel paziente splenectomizzato o con asplenia funzionale. In: Soc. Ital. Talassemia ed Emoglobinopatie. https://site-italia.org/download.php?file=Management_Asplenici.pdf. Accessed 1 Nov 2018

44.

Gladwin MT, Vichinsky E (2008) Pulmonary complications of sickle cell disease. N Engl J Med 359:2254–2265. https://doi.org/10.1056/NEJMra0804411 CrossRefPubMed

45.

Castro O, Brambilla DJ, Thorington B et al (1994) The acute chest syndrome in sickle cell disease: incidence and risk factors. The cooperative study of sickle cell disease. Blood 84:643–649CrossRefPubMed

46.

Miller ST (2011) How I treat acute chest syndrome in children with sickle cell disease. Blood 117:5297–5305. https://doi.org/10.1182/blood-2010-11-261834 CrossRefPubMed

47.

Williams LS, Garg BP, Cohen M et al (1997) Subtypes of ischemic stroke in children and young adults. Neurology 49:1541–1545. https://doi.org/10.1212/WNL.49.6.1541 CrossRefPubMed

48.

Ohene-Frempong K, Weiner SJ, Sleeper LA et al (1998) Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 91:288–294PubMed

49.

Nur E, Kim Y-S, Truijen J et al (2009) Cerebrovascular reserve capacity is impaired in patients with sickle cell disease. Blood 114:3473–3478. https://doi.org/10.1182/blood-2009-05-223859 CrossRefPubMed

50.

Okpala I, Westerdale N, Jegede T, Cheung B (2002) Etilefrine for the prevention of priapism in adult sickle cell disease. Br J Haematol 118:918–921CrossRefPubMed

51.

Walker EM, Mitchum EN, Rous SN et al (1983) Automated erythrocytopheresis for relief of priapism in sickle cell hemoglobinopathies. J Urol 130:912–916CrossRefPubMed

52.

Parent F, Bachir D, Inamo J et al (2011) A hemodynamic study of pulmonary hypertension in sickle cell disease. N Engl J Med 365:44–53. https://doi.org/10.1056/NEJMoa1005565 CrossRefPubMed

53.

Castro O (2003) Pulmonary hypertension in sickle cell disease: cardiac catheterization results and survival. Blood 101:1257–1261. https://doi.org/10.1182/blood-2002-03-0948 CrossRefPubMed

54.

Derchi G, Balocco M, Bina P et al (2014) Efficacy and safety of sildenafil for the treatment of severe pulmonary hypertension in patients with hemoglobinopathies: results from a long-term follow up. Haematologica 99:e17–e18. https://doi.org/10.3324/haematol.2013.095810 CrossRefPubMedPubMedCentral

55.

Machado RF, Barst RJ, Yovetich NA et al (2011) Hospitalization for pain in patients with sickle cell disease treated with sildenafil for elevated TRV and low exercise capacity. Blood 118:855–864. https://doi.org/10.1182/blood-2010-09-306167 CrossRefPubMedPubMedCentral

56.

Barst RJ, Mubarak KK, Machado RF et al (2010) Exercise capacity and haemodynamics in patients with sickle cell disease with pulmonary hypertension treated with bosentan: results of the ASSET studies. Br J Haematol 149:426–435. https://doi.org/10.1111/j.1365-2141.2010.08097.x CrossRefPubMedPubMedCentral

57.

Minniti CP, Machado RF, Coles WA et al (2009) Endothelin receptor antagonists for pulmonary hypertension in adult patients with sickle cell disease. Br J Haematol 147:737–743. https://doi.org/10.1111/j.1365-2141.2009.07906.x CrossRefPubMedPubMedCentral

58.

Weir NA, Saiyed R, Alam S et al (2017) Prostacyclin-analog therapy in sickle cell pulmonary hypertension. Haematologica 102:e163–e165. https://doi.org/10.3324/haematol.2015.131227 CrossRefPubMedPubMedCentral

59.

Schubert TT (1986) Hepatobiliary system in sickle cell disease. Gastroenterology 90:2013–2021CrossRefPubMed

60.

Pinto VM, Gianesin B, Balocco M et al (2017) Noninvasive monitoring of liver fibrosis in sickle cell disease: longitudinal observation of a cohort of adult patients. Am J Hematol 92:E666–E668. https://doi.org/10.1002/ajh.24918 CrossRefPubMed

61.

Origa R, Ponti ML, Filosa A et al (2017) Treatment of hepatitis C virus infection with direct-acting antiviral drugs is safe and effective in patients with hemoglobinopathies. Am J Hematol 92:1349–1355. https://doi.org/10.1002/ajh.24911 CrossRefPubMed

62.

Gardner K, Suddle A, Kane P et al (2014) How we treat sickle hepatopathy and liver transplantation in adults. Blood 123:2302–2307. https://doi.org/10.1182/blood-2013-12-542076 CrossRefPubMed

63.

Day TG, Drasar ER, Fulford T et al (2012) Association between hemolysis and albuminuria in adults with sickle cell anemia. Haematologica 97:201–205. https://doi.org/10.3324/haematol.2011.050336 CrossRefPubMedPubMedCentral

64.

Allon M, Lawson L, Eckman JR et al (1988) Effects of nonsteroidal antiinflammatory drugs on renal function in sickle cell anemia. Kidney Int 34:500–506CrossRefPubMed

65.

Falk RJ, Scheinman J, Phillips G et al (1992) Prevalence and pathologic features of sickle cell nephropathy and response to inhibition of angiotensin-converting enzyme. N Engl J Med 326:910–915. https://doi.org/10.1056/NEJM199204023261402 CrossRefPubMed

66.

Powars DR, Elliott-Mills DD, Chan L et al (1991) Chronic renal failure in sickle cell disease: risk factors, clinical course, and mortality. Ann Intern Med 115:614–620CrossRefPubMed

67.

Ojo AO, Govaerts TC, Schmouder RL et al (1999) Renal transplantation in end-stage sickle cell nephropathy. Transplantation 67:291–295CrossRefPubMed

68.

Huang E, Parke C, Mehrnia A et al (2013) Improved survival among sickle cell kidney transplant recipients in the recent era. Nephrol Dial Transplant 28:1039–1046. https://doi.org/10.1093/ndt/gfs585 CrossRefPubMed

69.

Al-Salem AH (2006) Indications and complications of splenectomy for children with sickle cell disease. J Pediatr Surg 41:1909–1915. https://doi.org/10.1016/j.jpedsurg.2006.06.020 CrossRefPubMed

70.

Iolascon A, Andolfo I, Barcellini W et al (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica 102:1304–1313. https://doi.org/10.3324/haematol.2016.161166 CrossRefPubMedPubMedCentral

71.

Almeida A, Roberts I (2005) Bone involvement in sickle cell disease. Br J Haematol 129:482–490. https://doi.org/10.1111/j.1365-2141.2005.05476.x CrossRefPubMed

72.

De Franceschi L, Baldini M, Dalle Carbonare L et al (2016) Raccomandazioni per il management delle malattie metaboliche dell’osso nelle Emoglobinopatie. Collana Scientifica SITE

73.

Goldberg MF (1971) Classification and pathogenesis of proliferative sickle retinopathy. Am J Ophthalmol 71:649–665CrossRefPubMed

74.

Vichinsky E, Torres M, Minniti CP et al (2013) Efficacy and safety of deferasirox compared with deferoxamine in sickle cell disease: two-year results including pharmacokinetics and concomitant hydroxyurea. Am J Hematol 88:1068–1073. https://doi.org/10.1002/ajh.23569 CrossRefPubMed

75.

Minniti CP, Eckman J, Sebastiani P et al (2010) Leg ulcers in sickle cell disease. Am J Hematol 85:831–833. https://doi.org/10.1002/ajh.21838 CrossRefPubMedPubMedCentral

76.

Fracchia E, Elkababri M, Cantello C et al (2010) Venous-like leg ulcers without venous insufficiency in congenital anemia: successful treatment using compression bandages. Dermatologic Surg 36:1336–1340. https://doi.org/10.1111/j.1524-4725.2010.01635.x CrossRef

77.

Kersgard C, Osswald MB (2001) Hydroxyurea and sickle cell leg ulcers. Am J Hematol 68:215–216CrossRefPubMed

78.

Villers MS, Jamison MG, De Castro LM, James AH (2008) Morbidity associated with sickle cell disease in pregnancy. Am J Obstet Gynecol 199:125.e1–125.e5. https://doi.org/10.1016/j.ajog.2008.04.016 CrossRef

79.

Vianello A, Vencato E, Cantini M et al (2018) Improvement of maternal and fetal outcomes in women with sickle cell disease treated with early prophylactic erythrocytapheresis. Transfusion 58:2192–2201. https://doi.org/10.1111/trf.14767 CrossRefPubMed

80.

Platt OS (2008) Hydroxyurea for the treatment of sickle cell anemia. N Engl J Med 358:1362–1369. https://doi.org/10.1056/NEJMct0708272 CrossRefPubMed

81.

Yawn BP, Buchanan GR, Afenyi-Annan AN et al (2014) Management of sickle cell disease. JAMA 312:1033. https://doi.org/10.1001/jama.2014.10517 CrossRefPubMed

82.

Angelucci E, Matthes-Martin S, Baronciani D et al (2014) Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel. Haematologica 99:811–820. https://doi.org/10.3324/haematol.2013.099747 CrossRefPubMedPubMedCentral

83.

Matte A, Mazzi F, Federti E et al (2019) New therapeutic options for the treatment of sickle cell disease. Mediterr J Hematol Infect Dis. https://doi.org/10.4084/mjhid.2019.002 CrossRefPubMedPubMedCentral

84.

Lohani N, Bhargava N, Munshi A, Ramalingam S (2018) Pharmacological and molecular approaches for the treatment of β-hemoglobin disorders. J Cell Physiol 233:4563–4577. https://doi.org/10.1002/jcp.26292 CrossRefPubMed

85.

Oksenberg D, Dufu K, Patel MP et al (2016) GBT440 increases haemoglobin oxygen affinity, reduces sickling and prolongs RBC half-life in a murine model of sickle cell disease. Br J Haematol 175:141–153. https://doi.org/10.1111/bjh.14214 CrossRefPubMed

86.

Ataga K, Kutlar A, Kanter J (2017) Crizanlizumab in sickle cell disease. N Engl J Med 376:1795–1796. https://doi.org/10.1056/NEJMc1703162 CrossRef

87.

Esrick EB, Bauer DE (2018) Genetic therapies for sickle cell disease. Semin Hematol 55:76–86. https://doi.org/10.1053/j.seminhematol.2018.04.014 CrossRefPubMed

88.

Sii-Felice K, Giorgi M, Leboulch P, Payen E (2018) Hemoglobin disorders: lentiviral gene therapy in the starting blocks to enter clinical practice. Exp Hematol 64:12–32. https://doi.org/10.1016/j.exphem.2018.05.004 CrossRefPubMed

89.

Antoniani C, Meneghini V, Lattanzi A et al (2018) Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus. Blood 131:1960–1973. https://doi.org/10.1182/blood-2017-10-811505 CrossRefPubMed

Titel: Sickle cell disease: a review for the internist
verfasst von: Valeria Maria Pinto
Manuela Balocco
Sabrina Quintino
Gian Luca Forni
Publikationsdatum: 05.08.2019
Verlag: Springer International Publishing
Erschienen in: Internal and Emergency Medicine / Ausgabe 7/2019
Print ISSN: 1828-0447
Elektronische ISSN: 1970-9366
DOI: https://doi.org/10.1007/s11739-019-02160-x

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