PMID- 30833808
OWN - NLM
STAT- MEDLINE
DCOM- 20190405
LR  - 20200309
IS  - 2219-2840 (Electronic)
IS  - 1007-9327 (Print)
IS  - 1007-9327 (Linking)
VI  - 25
IP  - 8
DP  - 2019 Feb 28
TI  - Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A 
      case report.
PG  - 1031-1036
LID - 10.3748/wjg.v25.i8.1031 [doi]
AB  - 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 (TNFalpha) 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.
FAU - Girot, Paul
AU  - Girot P
AD  - Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and 
      Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.
FAU - Le Berre, Catherine
AU  - Le Berre C
AD  - Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and 
      Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France. 
      catherine@leberre.org.
FAU - De Maissin, Astrid
AU  - De Maissin A
AD  - Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and 
      Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.
FAU - Freyssinet, Marie
AU  - Freyssinet M
AD  - Department of Gastroenterology, Clinique Jules Verne, Nantes 44300, France.
FAU - Trang-Poisson, Caroline
AU  - Trang-Poisson C
AD  - Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and 
      Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.
FAU - Bourreille, Arnaud
AU  - Bourreille A
AD  - Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and 
      Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - World J Gastroenterol
JT  - World journal of gastroenterology
JID - 100883448
RN  - 0 (Immunosuppressive Agents)
RN  - B72HH48FLU (Infliximab)
RN  - MRK240IY2L (Azathioprine)
RN  - X4W7ZR7023 (Methylprednisolone)
RN  - Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
SB  - IM
MH  - Albinism/*complications
MH  - Azathioprine/therapeutic use
MH  - Colitis/diagnosis/drug therapy/etiology
MH  - Colon, Sigmoid
MH  - Fatal Outcome
MH  - Female
MH  - Gastrointestinal Hemorrhage/diagnosis/*drug therapy/etiology
MH  - Hemorrhagic Disorders/*complications
MH  - Hermanski-Pudlak Syndrome/*complications
MH  - Humans
MH  - Immunosuppressive Agents/*therapeutic use
MH  - Infliximab/therapeutic use
MH  - Methylprednisolone/therapeutic use
MH  - Middle Aged
MH  - Rare Diseases/*complications
MH  - Severity of Illness Index
MH  - Shock, Hemorrhagic/diagnosis/*drug therapy/etiology
MH  - Sigmoid Diseases/diagnosis/*drug therapy/etiology
MH  - Sigmoidoscopy
PMC - PMC6397731
OTO - NOTNLM
OT  - Acute severe colitis
OT  - Azathioprine
OT  - Case report
OT  - Hermansky-Pudlak syndrome
OT  - Inflammatory bowel disease
OT  - Infliximab
COIS- Conflict-of-interest statement: The authors declare that they have no conflicts 
      of interest.
EDAT- 2019/03/06 06:00
MHDA- 2019/04/06 06:00
PMCR- 2019/02/28
CRDT- 2019/03/06 06:00
PHST- 2018/12/12 00:00 [received]
PHST- 2019/01/02 00:00 [revised]
PHST- 2019/01/14 00:00 [accepted]
PHST- 2019/03/06 06:00 [entrez]
PHST- 2019/03/06 06:00 [pubmed]
PHST- 2019/04/06 06:00 [medline]
PHST- 2019/02/28 00:00 [pmc-release]
AID - 10.3748/wjg.v25.i8.1031 [doi]
PST - ppublish
SO  - World J Gastroenterol. 2019 Feb 28;25(8):1031-1036. doi: 10.3748/wjg.v25.i8.1031.