Adenokarzinom des Magens und neuroendokrines Kolonkarzinom bei einem 45-jährigen Patienten mit Common Variable Immunodeficiency (CVID) und Colitis ulcerosa

Zusammenfassung

Common Variable Immunodeficiency (CVID) ist der häufigste primäre Immundefekt bei Erwachsenen. Die klinische Manifestationsbreite ist groß: So kommen neben rezidivierenden Infektionen auch Allergien sowie Autoimmun-, Tumor-, chronische Lungenerkrankungen, Leber- und gastrointestinale Erkrankungen gehäuft vor. Wir berichten über einen 45-jährigen Patienten, der seit Langem unter einer CVID mit Colitis ulcerosa leidet, die ebenfalls zu den assoziierten Erkrankungen gehört. Im Rahmen der Abklärung eines raschen Verfalls seines Allgemeinzustands sowie eines starken Gewichtsverlusts diagnostizierten wir ein Adenokarzinom des Magens sowie ein schlecht differenziertes neuroendokrines kolorektales Karzinom am rektosigmoidalen Übergang. Der Patient wurde durch distale Magenresektion und Proktokolektomie kurativ behandelt. Die pathogenetischen Zusammenhänge zwischen CVID und ihren Begleit- und Folgeerkrankungen sind in weiten Teilen noch unklar. Das gehäufte Auftreten z. B. von chronisch entzündlichen Darmerkrankungen oder des Magenkarzinoms ist jedoch statistisch eindeutig belegt. Der Fall demonstriert, dass bei CVID-Patienten mit unklarer Verschlechterung der klinischen Symptomatik sorgfältig nach typischen und darunter v. a. malignen Folgeerkrankungen zu suchen ist, auch wenn konkrete Screeningempfehlungen derzeit nicht existieren.

Abstract

Common variable immunodeficiency (CVID) is the most common primary antibody deficient syndrome in adults. Among the broad spectrum of clinical manifestations are recurrent infections, allergies, autoimmune, tumour, pulmonary, liver and gastrointestinal diseases. Here we report the case of a 45-year-old male patient, who has been suffering from ulcerative colitis − likewise recognised as a CVID-associated disease − for many years. He was admitted to our clinic with a rapid progressive reduction of his general condition and a loss of weight. Diagnostic work-up revealed adenocarcinoma of the stomach as well as an undifferentiated neuroendocrine carinoma of the colorectum at the rectosigmoidal junction. Curative resection of the distal stomach and proctolcolectomy were performed. To date, the pathogenesis of the association of many diseases with CVID is still ambiguous. Yet, there is no doubt about the significantly higher incidence of e. g., inflammatory bowel disease or gastric cancer in patients with CVID. Our case highlights that in patients with CVID and obscure deterioration of their general health condition a careful search for especially malignant complications is mandatory although to date there are no precise recommendations for screening.

Schlüsselwörter

Common Variable Immunodeficiency (CVID) - Colitis ulcerosa - Magenkarzinom - neuroendokrines kolorektales Karzinom

Key words

common variable immunodeficiency (CVID) - ulcerative colitis - gastric cancer - neuroendocrine colorectal carcinoma

• Literatur

• 1 Moehler M, Al-Batran SE, Andus T et al. S3-Leitlinie Magenkarzinom – Diagnostik und Therapie der Adenokarzinome des Magens und ösophagealen Übergangs. Z Gastroenterol 2011; 49: 461-531
• 2 Ahlman H, Nilsson O, McNicol AM et al. Poorly-differentiated neuroendocrine carcinomas of midgut and hindgut origin. Neuroendocrinology 2008; 87: 40-46
• 3 Öberg K, Akerström G, Rindi G et al. Neuroendocrine gastroenteropancreatic tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2010; 21 (Suppl. 05) v223-v227
• 4 Ahn S, Mayer L, Cunningham-Rundles C. Clinical manifestations and epidemiology of common variable immunodeficiency. Uptodate 2011;
• 5 Cunningham-Rundles C. How I treat CVID. Blood 2010; 116: 7-15
• 6 Resnick ES, Moshier EL, Godbold JH et al. Morbidity and Mortality in common variable immunodeficiency over 4 decades. Blood 2012; 119: 1650-1657
• 7 Vorechovsky I, Cullen M, Carrington M et al. Fine mapping of IGAD1 in IgA deficiency and CVID: indentification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol 2000; 164: 4408-4416
• 8 Knight AK, Radigan L, Marron T et al. High serum levels of BAFF, APRIL and TACI in common variable immunodeficiency. Clin Immunol 2007; 124: 182-189
• 9 Malamut G, Verkarre V, Suarez F et al. The enteropathy associated with CVID: The delineated frontiers with celiac disease. Am J Gastroenterol 2010; 105: 2262-2275
• 10 Agarwal S, Smereka P, Harpaz N et al. Characterization of immunologic defects in patients with CVID with intestinal disease. Inflamm Bowel Dis 2011; 17: 251-259
• 11 Agarwal S, Mayer L. Gastrointestinal manifestations in primary immune disorders. Inflamm Bowel Dis 2010; 16: 703-711
• 12 Daniels JA, Lederman HM, Maitra A et al. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): A clinicopathologic study and review. Am J Surg Path 2007; 31: 1800-1812
• 13 Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with CVID. J Allergy Clin Immunol 2002; 109: 1001-1004
• 14 Ahn S, Mayer L, Cunningham-Rundles C. Treatment and prognosis of CVID. Uptodate 2011;
• 15 Chua I, Standish R, Lear S et al. Anti-tumornecrosis-factor-alpha therapy for severe enteropathy in patients with CVID. Clin Exp Immunol 2007; 150: 306-311
• 16 Mellemkjaer L, Hammarstrom L, Andersen V et al. Cancer risk among patients with IgA deficiency or CVID and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002; 130: 495-500
• 17 Kinlen L, Webster ADB, Bird AG et al. Prospective study of cancer in patients with hypogammaglobulinemia. Lancet 1985; 1: 263-265
• 18 Desar IME, van Deuren M, Sprong T et al. Serum bactericidal activity against Helicobacter pylori in patients with hypogammaglobulinaemia. Clin Exp Immunol 2009; 156: 434-439
• 19 Dhalla F, da Silva SP, Lucas M et al. Review of gastric cancer risk factors in patients with cvid disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol 2011; 165: 1-7
• 20 Zullo A, Romiti A, Rinaldi V et al. Gastric pathology in patients with CVID. Gut 1999; 45: 77-81
• 21 Dignass A, Preiss JC, Aust DE et al. Updated German guideline on diagnosis and treatment of ulcerative colitis. Z Gastroenterol 2011; 49: 1276-341
• 22 Grassia R, Bodini P, Dizioli P et al. Neuroendocrine carcinomas arising in ulcerative colitis: coincidence or possible correlations?. World J Gastroenterol 2009; 33: 4193-4195
• 23 Sigel JE, Goldblum JR. Neuroendocrine neoplasms arising in inflammatory bowel disease: a report of 14 cases. Mod Pathol 1998; 92: 537-542
• 24 Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID and ESID. Clin Immunol 1999; 93: 190