This case study is interpersed with medical algorithms to illustrate how they can be utilized in clinical practice to help physicians obtain quick, reliable results.
Donald is a 45-year-old obese male who started noticing that his abdomen was becoming distended. He had a history of hypertension, sleep apnea, and worsening shortness of breath. There was no history of chronic fever, inflammatory or autoimmune disorders. His family history was unremarkable. In addition to the increasing girth, he had some nausea after eating and recently noted swelling of the ankles.
Evaluation: Abdominal Ascites Symptoms
The initial evaluation included an ultrasound and a CT scan of the abdomen and these showed the presence of ascites. The liver was also firm on palpation and the diagnosis of cirrhosis was made clinically. However, the exact cause for the cirrhosis was uncertain. He denied alcohol use (but many alcoholics do). He had risk factors for metabolic syndrome which can lead to non-alcoholic steatohepatitis (NASH) and cirrhosis. He has several tattoos, the first one received over 20 years ago when he was in the military. He got his most recent tattoo 3 months ago. There is also a lot of hepatitis C in his community.
The Child-Pugh Score for Grading Hepatic Cirrhosis
Model for Predicting Cirrhosis in a Patient with Viral Hepatitis C
Assessment Tool for Predicting the Risk of a Hepatitis C Viral Infection
International Diabetes Foundation (IDF) Definition of Metabolic Syndrome
HAIR Score for Predicting Nonalcoholic Steatohepatitis in a Severely Obese Patient
Prognostic Score for a Patient with Alcoholic Hepatitis (ABIC Score)
Glasgow Alcoholic Hepatitis Score (GAHS)
Because of the uncertainty as to cause it was decided to perform a percutaneous liver biopsy. The liver biopsy showed extensive amyloid deposits.
Diagnosis
A bone marrow biopsy showed a mild increase in plasma cells. FISH studies showed an abnormal plasma cell clone. Extensive amyloid was noted in the core biopsy. The diagnosis of a plasma cell neoplasm was made.
International Staging System of the International Myeloma Working Group for Multiple Myeloma
Because of the diagnosis of amyloidosis, additional studies were performed. The heart was enlarged with reduced LVEF. The kidneys were enlarged and there was mild proteinuria.
ECG and Imaging Findings in Cardiac Amyloidosis
Renal Amyloid Prognostic Score (RAPS)
Discussion
Amyloidosis is often a systemic disorder with deposits of the abnormal protein in multiple organs. It can occur with a variety of disorders including plasma cell neoplasm (myeloma), chronic inflammation, and familial causes.
Clinical Findings That Should Alert the Clinician to the Possibility of Amyloidosis
The prognosis depends on the extent of end-organ involvement and progression to organ failures. In this patient the status of the plasma cell neoplasm is also important.
Score for Predicting Survival for a Patient with Primary Systemic (AL) Amyloidosis
Staging System for Primary Systemic Amyloidosis Based on Cardiac Troponin and pro-BNP Serum Levels
Revised Prognostic Staging System for a Patient with Light Chain (Primary Systemic) Amyloidosis
Criteria of the Chronic Leukemia-Myeloma Task Force for Evaluating the Response of Multiple Myeloma to Therapy
Model for Predicting Risk of Progression in a Patient with Asymptomatic Multiple Myeloma
Take-Home Points
- Amyloidosis often mimics more-common diseases.
- Early diagnosis can help prevent further organ damage, which can be achieved with the use of medical algorithms and clinical expertise.
- Medical algorithms, if used strategically and appropriately, can be instrumental in the diagnosis, assessment and disease management of amyloidosis and nearly any other medical condition.
The medical algorithms highlighted in this case study are available at The Medical Algorithms Company and also on the apervita health analytics platform.
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About the Authors
Umang Jain is the Health Innovations Fellow at Apervita. He is passionate about medicine, research, and business. He is a fourth year medical student at Northwestern University’s Feinberg School of Medicine and will pursue Emergency Medicine residency. Umang’s scholarly interests include surgical outcomes research, in which he is published in the fields of ENT, orthopedic, plastic, cardiac, and urologic surgery. He has also participated in research in neurodegenerative disease at MIT and Boston University. Umang’s business experience stems from his work at the Institute of Healthcare Improvement (IHI) in Boston, MA. He worked closely with Dr. Donald Berwick, Administrator of Medicare and Medicaid Services (CMS) and Sir Nigel Crisp, the former Chief Executive of UK’s National Health Service, on engaging in evidence-based healthcare improvement interventions on a global scale. Umang was also an intern at Senticare Inc. and Personica, where he evaluated EHRs and in-home health monitoring equipment.
Dr. Chad Rudnick, MD, FAAP is a board-certified pediatrician in Boca Raton, FL. He is the Medical Director of The Medical Algorithms Company. A proponent of incorporating medical technology into his practice, Dr. Rudnick uses telemedicine and medical algorithms from The Medical Algorithms Company in his daily practice to better serve his patients and their families. An accomplished medical writer, he maintains a popular pediatric blog, All Things Pediatric, and has written for numerous online and print publications including KevinMD.com.
John Svirbely, MD is a founder and Chief Medical Officer of The Medical Algorithms Company and the primary author of its medical algorithms. John is a co-founder of the Medical Algorithms Project and has developed its medical content for nearly 20 years. He has a BA degree from the Johns Hopkins University and his MD from the University of Maryland. He is a board-certified pathologist with a fellowship in medical microbiology and biomedical computing at Ohio State University. Currently he is in private practice in Cincinnati, Ohio. He has authored multiple books and articles on medical algorithms.