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[ColonTODAY 041 - Colon amyloidosis]

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1. Introduction - 아밀로이드증

아밀로이드증은 이해하기 어려운 병입니다. Primay amyloidosis (multiple myeloma 등의 혈액암과 동반된 경우, AL amyloidosis)와 secondary amyloidosis (류마티스 관절염 등 만성 염증성 질환과 동반된 경우, AA amyloidosis) 및 기타 몇 가지 종류가 있습니다.

Amyloidosis is a group of infiltrative disorders that result from the extracellular deposit of amyloid fibrils composed of a variety of serum protein precursors, along with the nonfibrillar glycoprotein serum amyloid P (SAP) and glycosaminoglycans. Over 20 different proteins have been identified as causative agents. The letter A is used to designate amyloid fibril protein and is modified by a second letter or letters to indicate the specific fibrillar protein. Thus, with primary amyloidosis, the most common form is called AL, the L representing the fragment of immunoglobulin light chains found in the majority of patients, whether “primary” or associated with multiple myeloma. (Sleisenger 교과서)

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms. (Ebert EC. Am J Gastroenterol 2008)


2. Systemic 대장 아밀로이드증

대장에서 발견된 아밀로이드증에 대한 검사를 해 보면 primay amyloidosis (multiple myeloma 등의 혈액암과 동반된 경우, AL amyloidosis)와 secondary amyloidosis (류마티스 관절염 등 만성 염증성 질환과 동반된 경우, AA amyloidosis)가 가장 흔합니다. 드물게 localized form도 가능합니다.

Multiple myeloma 환자의 위와 장의 amyloidosis

복부 lymphoplastmocytic lymphoma (참고 1, 참고 2)로 치료 중인 70대 남성으로 만성설사를 보였고 대장 조직검사는 전부 amyloidosis였음.

TB destrolyed lung, CNPA (chronic necrotizing pulmonary aspergillosis) 환자가 지속적 소화불량, 복부팽만, poor oral intake로 대장내시경 검사를 시행하여 조직검사에서 amyloidosis로 진단되었고 골수 검사에서 plasma cell이 증가되어 있었고, 혈액검사에서 polyclonal gammopathy를 보임. 만성 염증에 의한 secondary amyloiodosis (AA type)으로 판단하여 CNPA에 대한 항진균제 투여 맟 위장 증상에 대한 치료 시행.

베체병 환자에서 발생한 systemic amyloidosis


3. Localized amyloidosis

전신 침범이 없이 한두 장기에 국한된 localizad form도 있습니다. 예후는 좋습니다.

40대 남성의 건진 대장내시경에서 발견된 localized form의 colon amyloidosis입니다. 타 장기 질환은 없었습니다. 경과관찰을 하는 수 밖에 없습니다. 장기 예후는 좋을 것 같습니다.

Localized amyloidosis 관련 자료를 소개합니다.

Localized deposition of amyloid may occur in individual organs, in the absence of systemic involvement. The reason for localized deposition is unknown, but it is hypothesized that deposits result from local synthesis of amyloid protein, rather than the deposition of light chains produced elsewhere. We identified 20 cases of localized amyloidosis at our institution between 1993 and 2003. There were 11 males and nine females in the group. The mean age at the time of diagnosis was 65.5 years. Organs involved included skin, soft tissues, oropharynx, larynx, lung, bladder, colon, conjunctiva, and lymph node. In six of nine patients typed, the amyloid light chain was lambda. In those patients where follow-up was available (mean 7.6 years), none developed systemic disease. Localized amyloidosis occurs in a variety of organ systems. Evolution into systemic amyloidosis was not seen in our series of patients, supporting the hypothesis of local production of amyloid protein in these cases. (Biewend ML. Amyloid 2006)


4. 위장관 아밀로이드증의 치료

1) Systemic GI amyloidosis의 위장관 침범: 근본적인 질환에 대한 치료

2) Localized form: 전심 침범이 없고 광범위하지 않으면 경과 관찰. 전신질환으로 진행하는 경우는 드뭅니다.

삼성서울병원 홍성노 교수님의 설명을 참고하시기 바랍니다.

PDF 0.6 M


5. 대장 아밀로이드증에 대한 Quiz (EndoTODAY 20150624)

[Quiz]

50대 남자로 건강검진에서 단백뇨가 발견되었습니다. 몇 개월 뒤 낙상(엉덩방아를 찧음)을 하였고 허리가 아파 병원을 방문하여 척추뼈 압박골절, 빈혈, creatinine 상승이 발견되었습니다. 검사를 하였고 어떤 질병으로 진단되었습니다. 치료 중 혈변으로 대장내시경을 하였습니다. (1) 어떤 질병이 의심되며, (2) 대장내시경은 어떤 소견이고 진단은 무엇이겠습니까?

[답변]

문제가 너무 쉬었나요? 힌트가 너무 많았나요? 모두 다 맞았습니다. Multiple myeloma with colon amyloidosis였습니다. 제 전공분야가 아닌지라 삼성서울병원 홍성노 교수님께 해설을 부탁드렸습니다. 자세한 설명을 보내주셨습니다. 감사합니다. 일부를 옮깁니다. 꼭 PDF file을 열어서 전부 읽어보시기 바랍니다.

PDF 0.6 M

환자의 병력등을 고려하면 amyloidosis 가능하며, 병력을 모른다면 부종을 동반한 점막에 다양한 형태의 미란/궤양이 혼재해서 infectious/ ischmic colitis로 진단될 수 있습니다. 동일 환자의 sigmidoscopy 사진 중 아래와 같은 submucoal hematoma가 관찰됩니다.

한 연구에서는 GI bleeding을 동반한 AL amylodosis의 전형적 내시경 소견으로 발표된 바 있습니다. James DG. Clinical recognition of Al type amyloidosis of the luminal gastrointestinal tract. Clin Gastroenterol Hepatol 2007

RESULTS: Nineteen patients with systemic AL amyloidosis of the luminal gastrointestinal tract were identified. Gastrointestinal symptoms or signs related to amyloid involvement were noted in 95% of patients; abdominal pain, change in bowel habits, overt gastrointestinal bleeding, and complaints related to altered motility were the predominant presentations. Endoscopic abnormalities were found in nearly three fourths of patients, including ulcerations and submucosal hematomas. When gastrointestinal bleeding was the presenting symptom, submucosal hematomas were a common finding during endoscopic evaluation.

CONCLUSIONS: AL type amyloidosis of the luminal gastrointestinal tract is a rare disease that presents with common, nonspecific complaints. The endoscopic detection of a submucosal hematoma in the setting of gastrointestinal bleeding in patients with plasma cell dyscrasias should raise suspicion for the disease.


[References]

1) EsoTODAY - Esophageal diseases

2) SmallTODAY - Small bowel diseases

3) ColonTODAY - Colorectal diseases

4) Dr. Sinn's LiverTODAY - Liver diseases

5) EndoTODAY Quiz 대장 아밀로이드증

6) EndoTODAY 위 아밀로이드증

© 일원내시경교실 바른내시경연구소 이준행. EndoTODAY Endoscopy Learning Center. Lee Jun Haeng.