Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report
|
摘要
BACKGROUND Hermansky-Pudlak syndrome(HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease(CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha(TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment.CASE SUMMARY We present the case of a 51-year-old albino woman who presented with acute severe colitis that led to the diagnosis of HPS. Histologic findings of biopsy samples showed chronic inflammation with deep ulcerations, and granulomas without caseous necrosis. Molecular genetic analysis confirmed HPS type 1, with a homozygous 27 base-pair deletion in exon 20 of the HPS1 gene. Once the patient's bleeding diathesis was corrected by platelet transfusion, the granulomatous colitis responded dramatically to a medical treatment regimen that included corticosteroids, azathioprine and infliximab; this regimen is similar to that used in CD treatment. Although it remains unclear if the granulomatous enterocolitis in HPS is due to ceroid deposition or reflects the co-existence of CD and HPS, the fact that this case of HPS-related granulomatous colitis responded to the same therapeutic approach used in CD suggests that this type of colitis may result from HPS patients' genetic susceptibility to CD.CONCLUSION We report a case of severe colitis that led to the diagnosis of HPS, which was responsive to azathioprine and infliximab.
BACKGROUND Hermansky-Pudlak syndrome(HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease(CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha(TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment.CASE SUMMARY We present the case of a 51-year-old albino woman who presented with acute severe colitis that led to the diagnosis of HPS. Histologic findings of biopsy samples showed chronic inflammation with deep ulcerations, and granulomas without caseous necrosis. Molecular genetic analysis confirmed HPS type 1, with a homozygous 27 base-pair deletion in exon 20 of the HPS1 gene. Once the patient's bleeding diathesis was corrected by platelet transfusion, the granulomatous colitis responded dramatically to a medical treatment regimen that included corticosteroids, azathioprine and infliximab; this regimen is similar to that used in CD treatment. Although it remains unclear if the granulomatous enterocolitis in HPS is due to ceroid deposition or reflects the co-existence of CD and HPS, the fact that this case of HPS-related granulomatous colitis responded to the same therapeutic approach used in CD suggests that this type of colitis may result from HPS patients' genetic susceptibility to CD.CONCLUSION We report a case of severe colitis that led to the diagnosis of HPS, which was responsive to azathioprine and infliximab.
BACKGROUND Hermansky-Pudlak syndrome(HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease(CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha(TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment.CASE SUMMARY We present the case of a 51-year-old albino woman who presented with acute severe colitis that led to the diagnosis of HPS. Histologic findings of biopsy samples showed chronic inflammation with deep ulcerations, and granulomas without caseous necrosis. Molecular genetic analysis confirmed HPS type 1, with a homozygous 27 base-pair deletion in exon 20 of the HPS1 gene. Once the patient's bleeding diathesis was corrected by platelet transfusion, the granulomatous colitis responded dramatically to a medical treatment regimen that included corticosteroids, azathioprine and infliximab; this regimen is similar to that used in CD treatment. Although it remains unclear if the granulomatous enterocolitis in HPS is due to ceroid deposition or reflects the co-existence of CD and HPS, the fact that this case of HPS-related granulomatous colitis responded to the same therapeutic approach used in CD suggests that this type of colitis may result from HPS patients' genetic susceptibility to CD.CONCLUSION We report a case of severe colitis that led to the diagnosis of HPS, which was responsive to azathioprine and infliximab.
引文
1 Hermansky F,Pudlak P.Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow:report of two cases with histochemical studies.Blood 1959;14:162-169[PMID:13618373]
2 Wei ML.Hermansky-Pudlak syndrome:a disease of protein trafficking and organelle function.Pigment Cell Res 2006;19:19-42[PMID:16420244 DOI:10.1111/j.1600-0749.2005.00289.x]
3 Hussain N,Quezado M,Huizing M,Geho D,White JG,Gahl W,Mannon P.Intestinal disease in Hermansky-Pudlak syndrome:occurrence of colitis and relation to genotype.Clin Gastroenterol Hepatol2006;4:73-80[PMID:16431308 DOI:10.1016/S1542-3565(05)00858-X]
4 Hazzan D,Seward S,Stock H,Zisman S,Gabriel K,Harpaz N,Bauer JJ.Crohn's-like colitis,enterocolitis and perianal disease in Hermansky-Pudlak syndrome.Colorectal Dis 2006;8:539-543[PMID:16919103DOI:10.1111/j.1463-1318.2006.01046.x]
5 Mora AJ,Wolfsohn DM.The management of gastrointestinal disease in Hermansky-Pudlak syndrome.JClin Gastroenterol 2011;45:700-702[PMID:21085008 DOI:10.1097/MCG.0b013e3181fd2742]
6 Witkop CJ,Nu?ez Babcock M,Rao GH,Gaudier F,Summers CG,Shanahan F,Harmon KR,Townsend D,Sedano HO,King RA.Albinism and Hermansky-Pudlak syndrome in Puerto Rico.Bol Asoc Med P R1990;82:333-339[PMID:2261023]
7 Hurford MT,Sebastiano C.Hermansky-pudlak syndrome:report of a case and review of the literature.Int J Clin Exp Pathol 2008;1:550-554[PMID:18787629]
8 Schinella RA,Greco MA,Cobert BL,Denmark LW,Cox RP.Hermansky-Pudlak syndrome with granulomatous colitis.Ann Intern Med 1980;92:20-23[PMID:7350869 DOI:10.7326/0003-4819-92-1-20]
9 Erzin Y,Cosgun S,Dobrucali A,Tasyurekli M,Erdamar S,Tuncer M.Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome,successfully treated with infliximab.Acta Gastroenterol Belg 2006;69:213-216[PMID:16929618]
10 Kouklakis G,Efremidou EI,Papageorgiou MS,Pavlidou E,Manolas KJ,Liratzopoulos N.Complicated Crohn's-like colitis,associated with Hermansky-Pudlak syndrome,treated with Infliximab:a case report and brief review of the literature.J Med Case Rep 2007;1:176[PMID:18067668 DOI:10.1186/1752-1947-1-176]
11 Grucela AL,Patel P,Goldstein E,Palmon R,Sachar DB,Steinhagen RM.Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.Am J Gastroenterol 2006;101:2090-2095[PMID:16848805 DOI:10.1111/j.1572-0241.2006.00733.x]
12 Sofia MA,Sakuraba A,Rubin DT.Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.ACG Case Rep J 2017;4:e14[PMID:28144619 DOI:10.14309/crj.2017.14]
13 Gerondopoulos A,Langemeyer L,Liang JR,Linford A,Barr FA.BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.Curr Biol 2012;22:2135-2139[PMID:23084991 DOI:10.1016/j.cub.2012.09.020]
14 Segal AW.Making sense of the cause of Crohn's-a new look at an old disease.F1000Res 2016;5:2510[PMID:28105308 DOI:10.12688/f1000research.9699.2]
15 Derkinderen P,Neunlist M.Crohn's and Parkinson disease:is LRRK2 lurking around the corner?Nat Rev Gastroenterol Hepatol 2018;15:330-331[PMID:29666431 DOI:10.1038/s41575-018-0006-9]
2 Wei ML.Hermansky-Pudlak syndrome:a disease of protein trafficking and organelle function.Pigment Cell Res 2006;19:19-42[PMID:16420244 DOI:10.1111/j.1600-0749.2005.00289.x]
3 Hussain N,Quezado M,Huizing M,Geho D,White JG,Gahl W,Mannon P.Intestinal disease in Hermansky-Pudlak syndrome:occurrence of colitis and relation to genotype.Clin Gastroenterol Hepatol2006;4:73-80[PMID:16431308 DOI:10.1016/S1542-3565(05)00858-X]
4 Hazzan D,Seward S,Stock H,Zisman S,Gabriel K,Harpaz N,Bauer JJ.Crohn's-like colitis,enterocolitis and perianal disease in Hermansky-Pudlak syndrome.Colorectal Dis 2006;8:539-543[PMID:16919103DOI:10.1111/j.1463-1318.2006.01046.x]
5 Mora AJ,Wolfsohn DM.The management of gastrointestinal disease in Hermansky-Pudlak syndrome.JClin Gastroenterol 2011;45:700-702[PMID:21085008 DOI:10.1097/MCG.0b013e3181fd2742]
6 Witkop CJ,Nu?ez Babcock M,Rao GH,Gaudier F,Summers CG,Shanahan F,Harmon KR,Townsend D,Sedano HO,King RA.Albinism and Hermansky-Pudlak syndrome in Puerto Rico.Bol Asoc Med P R1990;82:333-339[PMID:2261023]
7 Hurford MT,Sebastiano C.Hermansky-pudlak syndrome:report of a case and review of the literature.Int J Clin Exp Pathol 2008;1:550-554[PMID:18787629]
8 Schinella RA,Greco MA,Cobert BL,Denmark LW,Cox RP.Hermansky-Pudlak syndrome with granulomatous colitis.Ann Intern Med 1980;92:20-23[PMID:7350869 DOI:10.7326/0003-4819-92-1-20]
9 Erzin Y,Cosgun S,Dobrucali A,Tasyurekli M,Erdamar S,Tuncer M.Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome,successfully treated with infliximab.Acta Gastroenterol Belg 2006;69:213-216[PMID:16929618]
10 Kouklakis G,Efremidou EI,Papageorgiou MS,Pavlidou E,Manolas KJ,Liratzopoulos N.Complicated Crohn's-like colitis,associated with Hermansky-Pudlak syndrome,treated with Infliximab:a case report and brief review of the literature.J Med Case Rep 2007;1:176[PMID:18067668 DOI:10.1186/1752-1947-1-176]
11 Grucela AL,Patel P,Goldstein E,Palmon R,Sachar DB,Steinhagen RM.Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.Am J Gastroenterol 2006;101:2090-2095[PMID:16848805 DOI:10.1111/j.1572-0241.2006.00733.x]
12 Sofia MA,Sakuraba A,Rubin DT.Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.ACG Case Rep J 2017;4:e14[PMID:28144619 DOI:10.14309/crj.2017.14]
13 Gerondopoulos A,Langemeyer L,Liang JR,Linford A,Barr FA.BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.Curr Biol 2012;22:2135-2139[PMID:23084991 DOI:10.1016/j.cub.2012.09.020]
14 Segal AW.Making sense of the cause of Crohn's-a new look at an old disease.F1000Res 2016;5:2510[PMID:28105308 DOI:10.12688/f1000research.9699.2]
15 Derkinderen P,Neunlist M.Crohn's and Parkinson disease:is LRRK2 lurking around the corner?Nat Rev Gastroenterol Hepatol 2018;15:330-331[PMID:29666431 DOI:10.1038/s41575-018-0006-9]