Hereditary spherocytosis natural history, complications and prognosis

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Overview

Hereditary spherocytosis can present at any age with any severity, ranging from hydrops fetalis in utero through diagnosis in the ninth decade of life, with variable clinical course depending upon the severity of disease. Majority of affected individuals have mild or moderate hemolysis and known family history, making the diagnosis and treatment relatively easy. Complications include; jaundice, kernicterus, pigment gallstones, hemolytic, aplastic and megaloblastic crises, splenomegaly and leukemia. The prognosis is usually good with early diagnosis, regular followup and management. Patients with mild disease may develop symptoms only with environmental triggers. Many patients who undergo splenectomy are able to maintain normal hemoglobin levels, however patients with severe hereditary spherocytosis may remain anemic postsplenectomy and require regular blood transfusions. Postsplenectomy patients are at increased risk of life threatening infections (sepsis), therefore require vaccinations and antibiotics.

Natural History

Hemolytic anemia — A classification for hereditary spherocytosis has been developed based on the severity of anemia and markers of hemolysis (reticulocyte count and bilirubin) [7][8]; it characterizes patients as having one of the following:

Hereditary spherocytosis trait – Normal hemoglobin and reticulocyte count

●Mild hereditary spherocytosis (20 to 30 percent of cases) – Hemoglobin 11 to 15 g/dL; reticulocytes 3 to 6 percent; bilirubin 17 to 34 micromol/L

●Moderate hereditary spherocytosis (60 to 75 percent of cases) – Hemoglobin 8 to 12 g/dL; reticulocytes >6 percent; bilirubin >34 micromol/L

●Severe hereditary spherocytosis (5 percent of cases) – Hemoglobin 6 to 8 g/dL; reticulocytes >10 percent; bilirubin >51 micromol/L

Complications

Complications of hemolysis — Common complications of hemolysis include neonatal jaundice, splenomegaly, and pigment gallstones.

Neonatal jaundice — hereditary spherocytosis may present in the neonatal period with jaundice and hyperbilirubinemia, and the serum bilirubin level may not peak until several days after birth. Some experts have proposed that hereditary spherocytosis is underdiagnosed as a cause of neonatal jaundice. A requirement for phototherapy and/or exchange transfusion during this period is common.[17]

Splenomegaly — Splenomegaly is rare in neonates, but can often be seen in older children and adults with hereditary spherocytosis. Early reports of family studies found palpable spleen in over three-fourths of affected members, but this may reflect a skewed population with the most severe disease. In these studies, the relationship between disease severity and splenic size was not linear.[18]

Pigment gallstones — Pigment (bilirubin) gallstones are common in individuals with hereditary spherocytosis and may be the presenting finding in adults. Gallstones are unlikely before the age of 10 years but are seen in as many as half of adults, especially those with more severe hemolysis. Gallstones appear to be more common in individuals with Gilbert syndrome.[19]

Prognosis

References

  1. Olga Ciepiela (2018). "Old and new insights into the diagnosis of hereditary spherocytosis". Annals of translational medicine. 6 (17): 339. doi:10.21037/atm.2018.07.35. PMID 30306078. Unknown parameter |month= ignored (help)
  2. F. Delhommeau, T. Cynober, P. O. Schischmanoff, P. Rohrlich, J. Delaunay, N. Mohandas & G. Tchernia (2000). "Natural history of hereditary spherocytosis during the first year of life". Blood. 95 (2): 393–397. PMID 10627440. Unknown parameter |month= ignored (help)
  3. Perrotta, Silverio; Gallagher, Patrick G; Mohandas, Narla (2008). "Hereditary spherocytosis". The Lancet. 372 (9647): 1411–1426. doi:10.1016/S0140-6736(08)61588-3. ISSN 0140-6736.
  4. Perrotta S, Gallagher PG, Mohandas N (2008). "Hereditary spherocytosis". Lancet. 372 (9647): 1411–26. doi:10.1016/S0140-6736(08)61588-3. PMID 18940465.
  5. Whitfield CF, Follweiler JB, Lopresti-Morrow L, Miller BA (1991). "Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis". Blood. 78 (11): 3043–51. PMID 1954389.
  6. Eber SW, Armbrust R, Schröter W (1990). "Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis". J Pediatr. 117 (3): 409–16. PMID 2391596.
  7. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; et al. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br J Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
  8. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; et al. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br J Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
  9. Christensen RD, Yaish HM, Gallagher PG (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–14. doi:10.1542/peds.2014-3516. PMC 4444801. PMID 26009624.
  10. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.
  11. Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter |month= ignored (help)
  12. Friedman, Ellen Wolkin; Williams, Jeannine C.; van Hook, Lucille (1988). "Hereditary spherocytosis in the elderly". The American Journal of Medicine. 84 (3): 513–516. doi:10.1016/0002-9343(88)90275-6. ISSN 0002-9343.
  13. Guitton, C.; Garçon, L.; Cynober, T.; Gauthier, F.; Tchernia, G.; Delaunay, J.; Leblanc, T.; Thuret, I.; Bader-Meunier, B. (2008). "Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l'enfant". Archives de Pédiatrie. 15 (9): 1464–1473. doi:10.1016/j.arcped.2008.04.023. ISSN 0929-693X.
  14. Bastion Y, Coiffier B, Felman P, Assouline D, Tigaud JD, Espinouse D; et al. (1990). "Massive mediastinal extramedullary hematopoiesis in hereditary spherocytosis: a case report". Am J Hematol. 35 (4): 263–5. PMID 2239921.
  15. Smith J, Rahilly M, Davidson K (2011). "Extramedullary haematopoiesis secondary to hereditary spherocytosis". Br J Haematol. 154 (5): 543. doi:10.1111/j.1365-2141.2011.08692.x. PMID 21517821.
  16. Perrotta S, Gallagher PG, Mohandas N (2008). "Hereditary spherocytosis". Lancet. 372 (9647): 1411–26. doi:10.1016/S0140-6736(08)61588-3. PMID 18940465.
  17. Christensen RD, Henry E (2010). "Hereditary spherocytosis in neonates with hyperbilirubinemia". Pediatrics. 125 (1): 120–5. doi:10.1542/peds.2009-0864. PMID 19948573.
  18. MACKINNEY AA (1965). "HEREDITARY SPHEROCYTOSIS; CLINICAL FAMILY STUDIES". Arch Intern Med. 116: 257–65. PMID 14315658.
  19. del Giudice EM, Perrotta S, Nobili B, Specchia C, d'Urzo G, Iolascon A (1999). "Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis". Blood. 94 (7): 2259–62. PMID 10498597.
  20. Ruparel RK, Bogert JN, Moir CR, Ishitani MB, Khan SP, Rodriguez V; et al. (2014). "Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: is it really necessary?". J Pediatr Surg. 49 (3): 433–5. doi:10.1016/j.jpedsurg.2013.05.012. PMID 24650472.
  21. Yuki Tateno, Ryoji Suzuki & Yukihiro Kitamura (2016). "Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report". Journal of medical case reports. 10 (1): 337. doi:10.1186/s13256-016-1144-8. PMID 27906107. Unknown parameter |month= ignored (help)
  22. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.

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