University of Wisconsin Hematology

Metabolic disorders; other inherited conditions

Gaucher disease

  1. Zimran A. How I treat Gaucher disease. Blood 2011;118:1463
  2. Rosenbloom et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005;105:4569   (increased risk of myeloma)
  3. Landgren et al. Risk of Malignant Disease Among 1525 Adult Male US Veterans With Gaucher Disease. Arch Intern Med 2007;167:1189(increased risk of NHL, melanoma, pancreas CA, not myeloma)
  4. Balwani et al. Type 1 Gaucher Disease. Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med 2010;170:1463(97% had splenomegaly, over 40% had radiographic abnormalities in bone, 60% had decr bone density)
  5. de Fost et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood 2006;108:830(High dose enzyme replacement caused faster biochemical improvement but no difference in clinical improvement. See also the commenton this article)
  6. Elstein et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 2007;110:2296
  7. Zimran et al Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood 2010;115:4651
  8. Lukina et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 2010;116:4095
  9. Cox et al. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood 2017;129:2375
  10. Zimran et al. Pivotal trial with plant cell–expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 2011;118:5767

Porphyria

  1. Bissell et al. Porphyria. NEJM 2017;377:862
  2. Balwani and Desnick. The porphyrias: advances in diagnosis and management. Blood 2012;120:4496
  3. Bonkovsky H. Neurovisceral Porphyrias: What a Hematologist Needs to Know. Hematololgy 2005;24
  4. Anderson et al. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias. Ann Intern Med 2005;142:439
  5. Ajioka et al. Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008; 112:4723(decreased hepcidin production a cause of hepatic iron accumulation in PCT, regardless of HFE genotype)
  6. Yasuda et al. RNA interference therapy in acute hepatic porphyrias. Blood 2023;142:1589
  7. Sardh et al. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. NEJM 2019;380:549
  8. Balwani et al. Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. NEJM 2020;383:2289(74% reduction of attack rate in AIP; some patients had liver or kidney problems; with editorial)
  9. Karp and Dickey. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood 2023;141:2921
  10. Langendonk et al. Afamelanotide for erythropoietic porphyria. NEJM 2015;373:48
  11. Balwani et al. Dersimelagon in Erythropoietic Protoporphyrias. NEJM 2023;388:1376 (Melanocortin receptor agonist, increases melanin in skin)
  12. Blouin et al. Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria. Blood 2020;136:2457
  13. Egan et al. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. Blood 2015;126:257

Other

  1. De Maat et al. Hereditary angioedema: the plasma contact system out of control. J Thromb Haemost 2018;16:1674
  2. Craig et al. Prophylactic use of an anti-activated factor XII monoclonal antibody, garadacimab, for patients with C1-esterase inhibitor-deficient hereditary angioedema: a randomised, double-blind, placebo-controlled, phase 2 trial. Lancet 2022;399:945
  3. Craig et al. Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2023;401:1079
  4. Longhurst et al. CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema. NEJM 2024;390:432