Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.

The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed initiation of therapy may result in end-organ damage, such as chronic renal failure, hypertrophic cardiomyopathy, and stroke. Although some tools are available to identify undiagnosed patients, new comprehensive screening methods are needed. In this study, the outcomes of the cascade screening applied to three index cases with FD from 2 familes were investigated. In the pedigree analysis, 280 individuals were included; out of them, 131 individuals underwent genetic testing and cascade screening for FD. During the screening program, a total of 45 individuals were diagnosed, with a diagnostic ratio of 1:15. The average age at diagnosis for all individuals was 30.9 ± 17.7 years, and %25 were pediatric cases (mean age 9.5 ± 5.9 years). Thirty affected relatives were diagnosed from the two index cases in Family 1 and 15 individuals were diagnosed from one index case in Family 2. There were 13 consanguineous marriages observed among 2 pedigres, in two both spouses  were affected, leading to two homozygous affected daughters in one couple. In regions where there is a high prevalence of consanguineous marriages, implementing the cascade screening approach to identify all individuals at risk can be beneficial for patients with FD, specifically women and children.

Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

OBJECTIVES: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. METHODS: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 µmol/L/h. RESULTS: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 µmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 µmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). CONCLUSION: Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

Exogenously administered adenosine attenuates renal damage in streptozotocin-induced diabetic rats.

BACKGROUND: Diabetic nephropathy (DNP) is one of the most serious complications of diabetes mellitus (DM). In the present study, we investigated the potential of adenosine as a therapeutic candidate for preventing DNP. METHODS: Twenty-one adult male rats were included in the study. Fourteen rats were administered a single dose of 60 mg/kg streptozotocin (STZ) to induce diabetes. Seven rats served as normal control group. Diabetic rats were randomly divided into two groups: one group was treated with 1 mL/kg saline/day (DM + saline) and the other group was treated with 5 mg/kg/day adenosine (DM + adenosine) for 6 weeks. After 6 weeks, biochemical parameters including urea, creatinine, blood urea nitrogen (BUN), kidney injury molecule-1 (KIM-1) and tumor necrosis factor-α (TNF-α) were measured in plasma samples. Also, kidneys were removed for histopathological assessment. RESULTS: Both of plasma KIM-1 and TNF-α levels were significantly higher in DM + saline group compared to controls. However, treatment of diabetic rats with adenosine significantly decreased the plasma KIM-1 and TNF-α levels compared to DM + saline group. Significant histopathological changes were observed in diabetic rats whereas adenosine treatment effectively prevented these changes. CONCLUSIONS: The findings of the present study suggest that adenosine may be a useful therapeutic agent for preventing DNP.

Assessment of volume status and arterial stiffness in chronic kidney disease.

AIM: There is limited information about arterial stiffness in chronic kidney disease (CKD) which is an independent risk factor for cardiovascular events. Pulse wave velocity (PWV), augmentation index (AIx) are using to determine arterial stiffness. We aimed to study PWV, AIx, volume status in patients with stage 3B-5 CKD and continuous ambulatory peritoneal dialysis (CAPD). METHODS: Sixty-six stage 3B-5 CKD patients, 21 CAPD patients, 34 healthy controls were included. Pulse wave velocity, AIx, volume status was evaluated by Mobil-O-Graph®, and bioimpedance spectroscopy, respectively. RESULTS: The Median PWV was 7.5 m/s in CKD, 6.2 m/s in CAPD, 5.9 m/s in healthy controls, and while PWV was found to have increased significantly in CKD patients (p = 0.002), the Alx values were similar in all groups. The median extracellular fluid excess was higher in both the CKD and, CAPD patients when compared with healthy controls (1.26 and 1.21 L, respectively). Overhydration was more prevalent in CKD and CAPD patients (p < 0.001). Age, central systolic blood pressure, body mass index, fat mass, overhydration, CKD, eGFR were the major determinants of PWV. CONCLUSION: Increased PWV was found in stage 3B-5 CKD patients. Overhydration may contribute this increment.

Malnutrition due to bisphosphonate-related osteonecrosis of the jaw in a chronic dialysis patient: case report.

Adequate nutrition is imperative for a successful outcome in dialysis patients. Excellent oral hygiene and an efficient mastication can help to correct several metabolic and endocrine disturbances as well as delay initiation of dialysis in patients with chronic renal failure. However, concerns exist about the risk of malnutrition and protein depletion. On the other hand, intravenous bisphosphonates are the current standard of care for the treatment of hypercalcemia of malignancy and for the prevention of skeletal complications associated with bone metastases. Recently, retrospective case studies have reported an association between long-term bisphosphonate therapy and osteonecrosis of the jaws. This complication occurs either spontaneously or after minor dento-alveolar surgery including extraction of teeth. A malnourished dialysis patient who showed the typical clinical features of bisphosphonate-related osteonecrosis of the jaw (BRONJ) without any obvious radiological changes in his panoramic radiograph is reported. To minimize the risk of BRONJ, patients initiated on bisphosphonates should optimize routine dental care and have their baseline oral health evaluated by both clinical and radiographic examinations before initiation of bisphosphonate therapy.

Evaluation of the ischemia modified albumin levels in familial Mediterranean fever patients.

BACKGROUND: Familial Mediterranean fever (FMF) is an autoimmune disease with periodic fever attacks recurring with mutations in the MEFV gene and chronic inflammation. The new molecule which is formed as a result of the chemical changes made by oxidative free radicals in the albumin molecule during ischemic events is called ischemia modified albumin (IMA). AIM: The aim of this study is to evaluate the IMA levels as a predictor of the cardiovascular risk factor in FMF patients in the attack-free period and to evaluate the relationship between IMA and inflammation markers. METHODS: Forty FMF patients without any additional disease, non-smokers, and in their attacks-free period, 40 ankylosing spondylitis patients whose disease activity criteria is less than 4 from Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and 39 healthy adults were included in the cross-sectional analytical research. RESULTS: The value of IMA was statistically significantly higher in the AS group compared to the control group (p = 0.01). The positive correlations between IMA and ESR, LDL, total cholesterol, triglyceride, CRP, and fibrinogen were statistically significantly determined in FMF patients (respectively; r = 0.594; p < 0.001, r = 0.382; p = 0.015, r = 0.335; p = 0.034, r = 0.363; p = 0.021, r = 0.597; p < 0.001, r = 0.656; p < 0.001). The positive correlations between IMA and ESR, CRP were found in AS patients (respectively; r = 0.383; p = 0.015, r = 0.382; p = 0.015). CONCLUSION: IMA can be used as a predictor similar to cardiovascular risk factors and it is a precious marker for inflammation. The use of IMA in these fields and the multi-centred and comparative studies about predictability of it may contribute to science.

Which is the best choice for Helicobacter pylori eradication? Dual therapy or quadruple therapy?

Introduction: Standard triple therapy used to be the first-line treatment for Helicobacter pylori (Hp) infection, but today it is a treatment regimen with a low eradication rate due to increasing resistance to the antibiotics included in the triple therapy.Aim: To compare the eradication rates of dual treatment regimens and quadruple treatment regimens. Material and methods: Patients over 18 years of age, who were indicated to undergo upper gastrointestinal system (GIS) endoscopy for any reason, had their upper gastrointestinal endoscopy performed, were detected to have Hp as a result of the histopathological evaluation of the biopsy material, and in whom eradication control was also performed by histopathological evaluation, were included in the study. These patients were divided into 4 groups, each containing 50 people. Results: Considering the eradication rates of Hp-positive patients according to different treatment options, 78% (n = 39) of the patients in Group 1 were eradicated after the treatment while 66% (n = 33) of the patients in Group 3, 58% of the patients in Group 2 (n = 29), and 58% (n = 29) of the patients in Group 4 had Hp negative results after treatment. When high-dose dual treatments were compared, the highest eradication rate was obtained with rabeprazole, but no statistically significant difference was detected (p = 0.11). Conclusions: This is the first study to include dual therapies consisting of 3 different PPIs at the same time. The low eradication rates obtained in our study suggest that the determination of individualized treatment strategies in which CYP2C19 polymorphism is detected may result in higher eradication rates.

Can Ischemia Modified Albumin (IMA) Levels Be a Predictor of Acute Pancreatitis?

BACKGROUND: We aimed to evaluate the value of ischemia modified albumin (IMA) as a prognostic marker in acute pancreatitis (AP) patients, determine whether it is efficient in assessing the disease severity or not, and to estimate the correlation between IMA and the inflammatory markers, prognostic markers and scoring systems routinely used in clinical practice. METHODS: 100 adult patients (18 years and older) who have been hospitalized and evaluated with AP diagnosis in Tepecik Training and Research Hospital,, Department of Gastroenterology, between April 1, 2017 and April 1, 2018 have been enrolled in the study. Patients have been stratified disease etiology (biliary or non-biliary). The non-biliary group has been divided into subgroups as alcoholic, lipemic, or idiopathic. Disease severity has been categorized as mild, moderate, or severe pancreatitis according to the Atlanta classification. Ranson, Harmless Acute Pancreatitis Score (HAPS), Bedside Severity Index for Acute Pancreatitis (BISAP) scores have been determined for each patient. Patients have been grouped as necrotizing or edematous according to the Atlanta classification. RESULTS: According to our findings, IMA has been found to be correlated with disease severity, Ranson and BISAP scores, and procalcitonin levels. We have observed that some laboratory parameters including blood urea nitrogen and hematocrit levels and HAPS scoring system are not correlated to IMA. CONCLUSION: Our study is the first study to compare multiple prognostic factors with IMA in AP patients. In our study, the association between IMA and AP has been evaluated in the context of prognostic scoring and disease severity.

Effects of atorvastatin on development of peritoneal fibrosis in rats on peritoneal dialysis.

RATIONAL: Peritoneal sclerosis is one of the important complications of long-term peritoneal dialysis (PD). In this study, efficacy of atorvastatin on peritoneal histology and functions in non-uremic rats on PD was tested. OBJECTIVES: Twenty-two non-uremic Wistar albino rats were randomized into three groups: Sham (intraperitoneal saline), peritoneal dialysis (PD, intraperitoneal 3.86% dextrose containing PD solution), and treatment (TX, intraperitoneal 3.86% dextrose containing PD solution plus atorvastatin added into drinking water). At the end of a 4-week period, 1 h peritoneal equilibration test was performed. Serum lipids and certain cytokines, mediators, markers, and antioxidant enzyme activities in serum and dialysate were studied. Peritoneal thickness was measured and peritoneal inflammation, fibrosis, and vascular proliferation were scored in histological sections. MAIN FINDINGS: In histological examinations, inflammation, fibrosis, and vascular proliferation were significantly more frequent in PD group than Sham group and it seemed to decrease significantly when atorvastatin was used in conjunction with PD. Additionally, peritoneum was significantly thicker in PD group when compared to that of Sham and TX groups. Serum parameters did not significantly differ between groups. On the other hand, dialysate glutathione reductase (GR) activity and TGF-ß were significantly lower in TX group than that of the PD group, whereas dialysate IL-6 level was higher in TX group. PRINCIPAL CONCLUSIONS: In our study, atorvastatin use appeared to diminish structural changes in peritoneum. Decreased expression of TGF-ß in dialysate may be one of the possible underlying mechanisms.

Serum iron and vitamin B 12 deficiency could indicate celiac disease by flexible spectral imaging color enhancement.

INTRODUCTION Celiac disease (CeD) is an autoimmune disease that can be delayed in diagnosis due to the presence of atypical and asymptomatic cases in adulthood. Herein we aimed to study the frequency of CeD and evaluate whether magnified endoscopy and magnified/FICE (flexible spectral imaging color enhancement) techniques contribute to the diagnosis in patients with serum iron and vitamin B12 deficiency. METHODS We evaluated 50 adult patients (10 males and 40 females) who had serum iron and vitamin B12 deficiency, prospectively. All the patients had undergone upper gastrointestinal system endoscopy by the same endoscopist. The second part of the duodenum was evaluated with white light, magnified, and magnified/FICE endoscopy. Biopsy specimens were evaluated by the same pathologist. The specimens diagnosed as CeD were classified according to the Modified Marsh-Oberhuber criteria. RESULTS 10 of 50 patients (20%) were diagnosed as CeD. The average age was 41±11 years (20-67 years). Thirty percent of CeD diagnosed patients had typical CeD symptoms. Six of 10 patients (60%) who were diagnosed as CeD had typical endoscopic images under white lighted endoscopy. All of these 10 patients (100%) showed villous irregularity, partial villous atrophy, or total villous atrophy consistent with CeD with magnified and magnified/FICE endoscopy. CONCLUSION The practical use of magnified/FICE endoscopy allows us to differentiate mucosal abnormalities of the duodenum and minimize false-negative results that indicate normal mucosal findings with conventional endoscopy.

Evaluation of fibrosis in chronic hepatitis C patients treated with direct-acting antivirals.

Background and Aim: This study is an evaluation of liver fibrosis measurements determined using transient elastography and aspartate aminotransferase-to-platelet ratio index (APRI) scores of patients diagnosed with chronic hepatitis C (CHC) who were treated with direct-acting antivirals (DAAs). Materials and Methods: The liver fibrosis measurements recorded using transient elastography, APRI scores, and the biochemical data from before and after treatment of 40 patients with CHC who were treated with DAA were reviewed. Patients who received paritaprevir+ritonavir/ombitasvir+dasabuvir were included in Group 1 (n=20), and patients who received sofosbuvir+ledipasvir±ribavirin in Group 2 (n=20). Results: The mean liver fibrosis measurement of the patients was 15.73±10.63 kPa (min-max: 5.20-45.00 kPa) before treatment and 2.56±8.84 kPa (min-max: 4.30-42.00 kPa) after treatment. There was a significant improvement in liver fibrosis with a regression of 20.16% at the end of treatment compared with the start (p=0.001) with no significant difference between treatment groups (p=0.542). The highest regression rate of 75% was seen in patients with F2 fibrosis at the end of treatment. Significant regression was also found in patients with F3 fibrosis, with a rate of 57.2%, and in those with F4 fibrosis, with a rate of 17.6% (p=0.035). Significant reduction was also observed in the APRI scores of patients at the end of treatment compared with the start of treatment (p<0.001), with no significant difference between treatment groups (p=0.328). Conclusion: Noninvasive assessments of CHC patients treated with DAA revealed regression in liver fibrosis measurements and APRI scores and significant improvements were seen in the stage of fibrosis in the early phases following treatment.

Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease?

BACKGROUND: It is known that secondary hyperparathyroidism (SH) and particularly skeletal changes is a severe condition in chronic kidney disease (CKD). Sagliker syndrome (SS) is a very prominent feature in CKD including uglifying human face appearances, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems. METHODS: In the last 8 years we have confronted 36 extremely incredible SS cases in CKD by performing an international study in Turkey, India, Malaysia, Romania and Egypt. RESULTS: In addition to the uglifying human face appearance, we found extremely severe X-ray and tomographical, pantomographical, histo-pathological changes in the head and whole body. Finally, we compared previous face pictures with recent ones. Just a few years earlier they had been pretty and good-looking young boys and girls. By investigating their history, we understood they had not received proper therapy and were in the late-irreversible period. CONCLUSION: SS is a serious and severe complication of CKD. Late and improper treatment leads to abnormalities throughout skeleton particularly in the skull and face. Changes particularly in children and teens become irreversible-disastrous for appearance and psychological health. Appropriate treatment must begin as early as possible in specialized centers. It is possible that SS patients may survive long-term with dialysis, but with all those particular changes could anyone claim this type of life would continue in an acceptable way without extending their height, correcting all the changes in the skull and face, remodeling new faces and most particularly convincing the patients to deal with all those tragi-dramatic psychological problems?

International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients.

OBJECTIVE: It is known that skeletal changes due to secondary hyperparathyroidism (SH) can be severe in chronic kidney disease (CKD). Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems. DESIGN, SETTING, PATIENTS: In the past 8 years, we have encountered 40 cases of SS in SH and CKD by performing an international study in Turkey, India, Romania, Egypt, Maleysia, Tunis, and China. RESULTS: The medical history of these patients showed that they did not receive proper therapy. Changes, particularly in children and teenagers, become irreversible, which was disastrous for the patients both aesthetically and psychologically. CONCLUSION: Treatment must begin early and be the appropriate treatment given in centers with sophisticated skills. Otherwise, the inability to correct all the changes in the skull and face, to remodel a new face, to extending the height, and, most important, to convince the patients to face the dramatic psychological problems can be catastrophic for those patients.

Color Doppler US evaluation of feeding artery after balloon angioplasty of the drainage vein in dysfunctional hemodialysis AVF.

PURPOSE: The aim of this study was to investigate flow rate and resistive index (RI) parameters of the feeding artery after balloon angioplasty of the drainage vein in dysfunctional hemodialysis arteriovenous fistula (AVF) due to venous stenosis/thrombosis. METHODS: A cohort of 10 patients with native dysfunctional hemodialysis AVF was evaluated prospectively. Three of the 10 patients had a thrombosed drainage vein, and the remaining seven patients had a stenotic drainage vein. Flow rate and RI of the feeding artery of AVF were calculated by Color Doppler ultrasound (CDU) before and after balloon angioplasty and in the follow-up period. The flow rates and RI values before and after angioplasty and in the follow-up were compared. RESULTS: Increased flow rate and decreased RI values were detected after balloon angioplasty in all patients. We detected restenosis or thrombosis of drainage vein in six of the patients in the follow-up period. Decreased flow rate and increased RI values compared with previous measurements were calculated in these patients. CONCLUSIONS: Increased flow rate and decreased RI in the feeding artery of native dysfunctional AVF were demonstrated in patients who underwent balloon angioplasty on the stenotic vein. If restenosis develops in the follow-up period, the previous high resistance flow pattern is observed again. Feeding artery flow parameters as calculated by CDU can be used as a simple indicator of possible drainage vein problems of native AVF.

The relationship between malnutrition and quality of life in haemodialysis and peritoneal dialysis patients.

BACKGROUND: One of the most important factors affecting the quality of life of chronic kidney disease (CKD) patients is nutrition. Prevention of malnutrition increases patients' quality and length of life. In this study, we aimed to determine the frequency of malnutrition, quality of life, and the relationship between them in patients with end-stage renal disease (ESRD). METHOD: The study was conducted with a total of 60 CKD patients including 50 haemodialysis patients and 10 peritoneal dialysis patients. Patients' data associated with socio-demographics, body mass index (BMI), waist circumference, triceps skin-fold thickness (TSFT), pre-dialysis systolic and diastolic blood pressure, Kt/V and urea reduction ratio (URR) values, laboratory parameters, Mini-Nutritional Assessment-Short Form (MNA-SF) and European Quality of Life 5-Dimensions (EQ5D) scale were recorded. FINDINGS: Of the total 60 patients; 27 were male (45%), 33 were female (55%), 83.3% were receiving haemodialysis treatment (HD), and 16.7% were receiving peritoneal dialysis treatment (PD). The mean MNA-SF score was 10.4 ± 2.8 in the HD group and 10.5 ± 2.9 in the PD group; there was no difference between the scores of the HD and PD groups. The mean EQ5D score was 0.60 ± 0.29 in the HD group and 0.68 ± 0.33 in the PD group, no significant difference was found between the HD group and the PD group. The quality of life was found lower in malnourished group (p=0.001). CONCLUSION: The quality of life needs to be increased by early diagnosis and treatment of malnutrition in patients at risk.

The effect of hemodialysis on the body composition and cardiovascular disease markers in recently diagnosed end stage renal disease patients.

AIM: Uremic toxins and excess fluid contributes to increased cardiovascular (CV) risk. We aimed to determine the body fluid status in patients who are just starting hemodialysis (HD) and to determine the effects of excess fluid removed by HD on the CV system. METHODS: A total of 52 patients with chronic kidney disease (CKD) who had just started HD were included. Before the HD, the left atrial diameter was measured, the volumes were calculated, the pulse wave velocity (PWV) and the augmentation index (AIx) were measured, the bioimpedance analysis (BIA) was performed, the blood was taken for brain natriuretic peptide (BNP). When patients reached their dry weight with HD, the same measurements were repeated. RESULTS: Measurements were made to determine the volume status, and all parameters except the fat tissue index decreased significantly after HD. With the removal of fluid by HD, there was an average weight reduction of 4.38 kilograms. Positive correlations between PWV and age and cardiothoracic ratio (CTR) before HD were determined. Negative correlations were found between PWV and lean tissue mass (LTM) and intracellular water (ICW) before HD. At the end of the last HD, PWV was positively correlated with age, CTR, central pulse pressure Correlation between pulse wave velocity and LTI was negative. CONCLUSIONS: HD significantly improves PWV in patients reaching dry weight. Reduction of fluid excess by ultrafiltration in HD patients may reduce CV mortality by reducing arterial stiffness.

Acute kidney injury after near drowning: The way from the beach to hemodialysis.

Acute kidney injury (AKI) occurs in many different situations and may have a variable prognosis influenced by clinical setting, underlying cause, and comorbidity. This is important because of the high mortality and morbidity risk affecting many people around the world. Near-drowning related AKI requiring hemodialysis is very seldom reported in literature. Although cardiovascular and respiratory disorders are more frequently seen after this entity, we aimed to emphasize this rare but dangerous complication in near-drowning patients.

Fludarabine Treatment of Patient with Chronic Lymphocytic Leukemia Induces a Digital Ischemia.

We report a 63-year-old man with a history of chronic lymphocytic leukemia (CLL) who presented with asymmetrical Raynaud's phenomenon of sudden onset which progressed to acral gangrene rapidly in a week. These symptoms began approximately one week after the fourth cycle of fludarabine and cyclophosphamide chemotherapy and were accompanied by pain, numbness, and cyanosis in the fingers of his right hand except the first finger. Fludarabine may play a role in acral vascular syndrome. The treatment with fludarabine in patients with evolving digital ischemia should be carried out with caution.

Quantitative serum free light chain assay in the diagnostic evaluation of AL amyloidosis.

We compared a new serum immunoassay for quantitation of serum free light chains (FLC) with the conventional tests for clonal immunoglobulin production: bone marrow immunohistochemistry, serum immunofixation electrophoresis, and urine immunofixation electrophoresis. Serum samples from 169 patients with AL amyloidosis and 20 controls were examined. Elevated levels of kappa-FLC and lambda-FLC were found in 94% and 93% of patients with the respective clonal disease. However, false positive elevations of kappa-FLC and lambda-FLC were found in 30% and 44% of patients with clonal disease of the other light chain subtype. We found that the FLC level was a reliable test for the diagnosis of clonal disease when the FLC kappa:lambda ratio was abnormal and was comparable to the conventional tests in patients with AL amyloidosis. After a histologic tissue diagnosis of amyloidosis, determining the type as AL amyloidosis relies on a panel of hematologic tests to determine light chain clonality and the exclusion other forms of amyloidosis.