Diagnosis and typing of systemic amyloidosis: The role of abdominal fat pad fine needle aspiration

Department of Pathology, The Methodist Hospital, Houston TX.
CytoJournal 01/2010; 6(1):24. DOI: 10.4103/1742-6413.58950
Source: PubMed


Systemic amyloidosis (SA) has a broad nonspecific clinical presentation. Its diagnosis depends on identifying amyloid in tissues. Abdominal fat pad fine needle aspiration (FPFNA) has been suggested as a sensitive and specific test for diagnosing SA.
Thirty-nine FPFNA from 38 patients (16 women and 20 men, age range 40-88 years) during a 15-year period were reviewed. Smears and cell blocks were stained with Congo red (CR). A panel of antibodies (serum amyloid protein, serum amyloid A, albumin, transthyretin, kappa light chain and lambda light chain) was used on six cell blocks from five patients. The FNA findings were correlated with clinical and histological follow-up.
FPFNAs were positive, confirmed by CR in 5/39 (13%), suspicious in 1/39 (3%), negative in 28/39 (72%), and insufficient for diagnosis in 5/39 (13%) of cases. In all the positive cases, SA was confirmed within 2-16 weeks. Among the 28 negative cases, SA was diagnosed in 21, the rest were lost to follow-up. Among the insufficient cases, SA was diagnosed in four and one was lost to follow-up. Specificity was 100%, whereas sensitivity was 19%. SA typing using cell block sections was successful in three, un-interpretable in one, and negative in two cases.
FPFNA for SA is not as good as previously reported. This may be due to different practice setting, level of experience, diagnostic technique, or absence of abdominal soft tissue involvement. A negative result of FPFNA does not exclude SA. Immune phenotyping of amyloid is possible on cell block.

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Available from: Donna J Lager, Apr 29, 2015
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    • "Typical sources include abdominal fat-pad, kidney, rectal, gingival mucosa, or bone marrow aspirate. Currently, most samples are obtained from an abdominal fat-pad [2, 5]. Previously, gingival or rectal specimens were commonly obtained [5]. "
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    ABSTRACT: A histologic diagnosis of amyloidosis requires acquiring tissue containing amyloid fibrils from an affected organ or alternate site. The biopsy site and staining techniques may influence testing accuracy. We present a case in which systemic amyloidosis was suspected; however, biopsies of the bone marrow, an osteosclerotic bone lesion, arterial and venous vessels, and the fat pad were all negative for the diagnostic Congo red stain. An eventual renal biopsy demonstrated AL-amyloidosis, kappa light chain associated with extensive vascular interstitial, and glomerular, involvement. Choice of biopsy site, as well as staining and analysis of the tissue, can influence sensitivity and specificity of amyloid testing. Fat-pad biopsies are less invasive and offer reasonable sensitivity. Bone marrow samples are only diagnostic up to 63% of the time. A renal biopsy offers improved sensitivity and is generally safe in experienced hands, but is a more invasive procedure with increased number of relative contraindications and complications. The choice of the biopsy site should be based on considering the expected yield, accessibility of the site, and the risks associated with the procedure.
    12/2012; 2012(4). DOI:10.1155/2012/593460
    • "In a series of 151 patients, reported by Gertz et al., the subcutaneous fat aspirate was falsely negative in 28% of cases.[22] A recent study also reported lower sensitivity of fat pad aspiration for amyloid with Congo red stain.[16] Another study comparing EM, immuno- electron microscopy, and Congo red staining to evaluate abdominal fat pad specimens of suspected cardiac amyloidosis cases, reported detection of amyloid in 100% of cases by EM and in 93% cases by Congo red staining.[24] "
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    ABSTRACT: Fine-needle aspiration biopsy (FNA) of the abdominal fat pad is a minimally invasive procedure to demonstrate tissue deposits of amyloid. However, protocols to evaluate amyloid in fat pad aspirates are not standardized, especially for detecting scant amyloid in early disease. We studied abdominal fat pad aspirates from 33 randomly selected patients in whom subsequent tissue biopsy, autopsy, and/or medical history for confirmation of amyloidosis (AL) were also available. All these cases were suspected to have early AL, but had negative results on abdominal fat pad aspirates evaluated by polarizing microscopy of Congo Red stained sections (CRPM). The results with CRPM between four reviewers were compared in 12 cases for studying inter observer reproducibility. 24 cases were also evaluated by ultrastructural study with electron microscopy (EM). Nine of thirty-three (27%) cases reported negative by polarizing microscopy had amyloidosis. Reanalysis of 12 mixed positive-negative cases, showed considerable inter-observer variability with frequent lack of agreement between four observers by CRPM alone (Cohen's Kappa index of 0.1, 95% CI -0.1 to 0.36). EM showed amyloid in the walls of small blood vessels in fibroadipose tissue in four out of nine cases (44%) with amyloidosis. In addition to poor inter-observer reproducibility, CRPM alone in cases with scant amyloid led to frequent false negative results (9 out of 9, 100%). For improved detection of AL, routine ultrastructural evaluation with EM of fat pad aspirates by evaluating at least 15 small blood vessels in the aspirated fibroadipose tissue is recommended. Given the high false negative rate for CRPM alone in early disease, routine reflex evaluation with EM is highly recommended to avert the invasive option of biopsying various organs in cases with high clinical suspicion for AL.
    CytoJournal 06/2011; 8(1):11. DOI:10.4103/1742-6413.82278
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    ABSTRACT: Historically, heart, liver, and kidney biopsies were performed to demonstrate amyloid deposits in amyloidosis. Since the clinical presentation of this disease is so variable and non-specific, the associated risks of these biopsies are too great for the diagnostic yield. Other sites that have a lower biopsy risk, such as skin or gingival, are also relatively invasive and expensive. In addition, these biopsies may not always have sufficient amyloid deposits to establish a diagnosis. Fat pad aspiration has demonstrated good clinical correlation with low cost and minimal morbidity. However, there are no standardized protocols for performing this procedure or processing the aspirated specimen, which leads to variable and nonreproducible results. The most frequently utilized modality for detecting amyloid in tissue is an apple-green birefringence on Congo red stained sections using a polarizing microscope. This technique requires cell block preparation of aspirated material. Unfortunately, patients presenting in early stage of amyloidosis have minimal amounts of amyloid which greatly reduces the sensitivity of Congo red stained cell block sections of fat pad aspirates. Therefore, ultrastructural evaluation of fat pad aspirates by electron microscopy should be utilized, given its increased sensitivity for amyloid detection. This article demonstrates a simple and reproducible procedure for performing anterior fat pad aspiration for the detection of amyloid utilizing both Congo red staining of cell block sections and electron microscopy for ultrastructural identification.
    Journal of Visualized Experiments 10/2010; DOI:10.3791/1747 · 1.33 Impact Factor
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