Metabolic Bone Diseases: A Case-Based Approach

270 Pages·2019·6.326 MB·English

by  Pauline M. Camacho

Metabolic Bone
Diseases
A Case-Based Approach
Pauline M. Camacho
Editor
123
Metabolic Bone Diseases
Pauline M. Camacho
Editor
Metabolic Bone Diseases
A Case-Based Approach
Editor
Pauline M. Camacho
Division of Endocrinology and Metabolism
Loyola University Medical Center
Maywood
IL
USA
ISBN 978-3-030-03693-5 ISBN 978-3-030-03694-2 (eBook)
https://doi.org/10.1007/978-3-030-03694-2
Library of Congress Control Number: 2019930837
© Springer Nature Switzerland AG 2019
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Contents
1 Osteoporosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
E. Michael Lewiecki
2 Primary Hyperparathyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Clare O’Connor, Joshua A. Levine, and Allison Hahr
3 Non-PTH-Mediated Hypercalcemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27
Farah Meah, Gregory Charnogursky, Ruchita Patel, Namratha
Reddy, and Lily Agrawal
4 Osteomalacia and Rickets . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43
Sumeet Jain and Pauline M. Camacho
5 Hypoparathyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55
Susan Karam and Allison Hahr
6 Pseudohypoparathyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67
Bart L. Clarke
7 Phosphorus Disorders: Hypophosphatemic Rickets . . . . . . . . . . . . . . . 83
Bart L. Clarke
8 Paget’s Disease of Bone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99
Alaleh Mazhari, Vinita Singh, Nicholas Emanuele, and Mary Ann
Emanuele
9 Hypophosphatasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 117
Rod Marianne Arceo-Mendoza, Anne Margarette Bacal, and Pauline
M. Camacho
10 Osteogenesis Imperfecta . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 123
Ruchita Patel and Pauline M. Camacho
11 Tumor-Induced Osteomalacia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 137
Mark Anthony Sandoval
v
vi Contents
12 Sclerotic Bone Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169
Sina Jasim, Robert Wermers, and Daniel L. Hurley
13 Fibrous Dysplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183
Anupam Kotwal, Jad G. Sfeir, and Daniel L. Hurley
14 Osteochondrodysplasias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 193
Jad G. Sfeir, Anupam Kotwal, and Daniel L. Hurley
15 Malignancies of the Bone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 245
Megan R. Crawford, Susan E. Williams, Leila Khan,
and Angelo Licata
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 263
Contributors
Lily Agrawal, MD Department of Medicine, Division of Endocrinology and
Metabolism, Edward Hines Jr. VA Hospital, Hines, Illinois, USA
Rod Marianne Arceo-Mendoza, MD Division of Endocrinology and Metabolism,
Loyola University Medical Center, Loyola University Osteoporosis and Metabolic
Bone Disease Center, Maywood, IL, USA
Anne Margarette Bacal, MD Division of Endocrinology and Metabolism, Loyola
University Medical Center, Loyola University Osteoporosis and Metabolic Bone
Disease Center, Maywood, IL, USA
Pauline M. Camacho, MD, FACE Division of Endocrinology and Metabolism,
Loyola University Medical Center, Loyola University Osteoporosis and Metabolic
Bone Disease Center, Maywood, IL, USA
Gregory Charnogursky, MD Department of Medicine, Division of Endocrinology
and Metabolism, Loyola Medicine, Maywood, IL, USA
Bart L. Clarke, MD Mayo Clinic, Rochester, MN, USA
Megan R. Crawford, DO Department of Endocrinology, Diabetes and Metabolism,
Cleveland Clinic Foundation, Cleveland, OH, USA
Mary Ann Emanuele, MD Department of Medicine, Division of Endocrinology
and Metabolism, Loyola University Medical Center, Maywood, IL, USA
Nicholas Emanuele, MD Endocrinology Section, Hines VA Hospital, Loyola
University of Chicago Stritch School of Medicine, Hines, IL, USA
Allison  Hahr, MD Division of Endocrinology, Metabolism and Molecular
Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Daniel L. Hurley, MD Department of Medicine and Division of Endocrinology,
Diabetes, Metabolism and Nutrition, Mayo Clinic College of Medicine, Mayo
Clinic, Rochester, MN, USA
vii
viii Contributors
Sumeet Jain, MD Division of Endocrinology and Metabolism, Loyola University
Medical Center, Maywood, IL, USA
Sina  Jasim, MD, MPH Department of Internal Medicine and Division of
Endocrinology, Metabolism and Lipid Research, Washington University School of
Medicine, St. Louis, MO, USA
Susan Karam, MD Department of Endocrinology, Metabolism and Molecular
Medicine, Northwestern Memorial Hospital, Chicago, IL, USA
Leila  Khan, MD Department of Endocrinology, Diabetes and Metabolism,
Cleveland Clinic Foundation, Cleveland, OH, USA
Anupam Kotwal, MBBS Department of Medicine and Division of Endocrinology,
Diabetes, Metabolism and Nutrition, Mayo Clinic College of Medicine, Mayo
Clinic, Rochester, MN, USA
Joshua A. Levine, MD, PhD Division of Endocrinology, Metabolism and Molecular
Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
E. Michael Lewiecki, MD, FACP, FACE New Mexico Clinical Research &
Osteoporosis Center, Albuquerque, NM, USA
Angelo Licata, MD, PhD Department of Endocrinology, Diabetes and Metabolism,
Cleveland Clinic Foundation, Cleveland, OH, USA
Alaleh Mazhari, DO Department of Medicine, Division of Endocrinology and
Metabolism, Loyola University Medical Center, Maywood, IL, USA
Farah  Meah, DO Department of Medicine, Division of Endocrinology and
Metabolism, Edward Hines Jr. VA Hospital, Hines, Illinois, USA
Clare O’Connor, MD Division of Endocrinology, Metabolism and Molecular
Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL,
USA
Ruchita Patel, DO Department of Medicine, Division of Endocrinology and
Metabolism, Loyola University Medical Center, Maywood, IL, USA
Namratha Reddy, MD Department of Medicine, Loyola University Medical
Center, Maywood, Illinois, USA
Mark Anthony Sandoval, MD, FPCP, FPSEDM Department of Physiology and
Section of Endocrinology, Diabetes and Metabolism, Department of Medicine,
College of Medicine and Philippine General Hospital, University of the Philippines
Manila, Manila, Philippines
Jad  G.  Sfeir, MD Department of Medicine and Division of Endocrinology,
Diabetes, Metabolism and Nutrition, Mayo Clinic College of Medicine, Mayo
Clinic, Rochester, MN, USA
Contributors ix
Vinita Singh, MD Department of Medicine, Division of Endocrinology and
Metabolism, Loyola University Medical Center, Maywood, IL, USA
Robert Wermers, MD Department of Medicine and Division of Endocrinology,
Diabetes, Metabolism and Nutrition, Mayo Clinic College of Medicine, Mayo
Clinic, Rochester, MN, USA
Susan E. Williams, MS, RD, MD Department of Endocrinology, Diabetes and
Metabolism, Cleveland Clinic Foundation, Cleveland, OH, USA
Chapter 1
Osteoporosis
E. Michael Lewiecki
Case Presentation and Discussion
A 58-year-old woman has a screening bone density test with dual-energy X-ray
absorptiometry (DXA) that shows a T-score of −2.9 at the left femoral neck. She is
generally healthy except for episodic diarrhea and constipation, which has been
attributed to irritable bowel syndrome and treated with a high-fiber diet. She has a
family history osteoporosis (mother with hip fracture at age 82 years). She has no
known fracture and has never received pharmacological therapy to reduce fracture
risk. A diagnosis of osteoporosis is made, and she is started on treatment with a
generic oral bisphosphonate. Eighteen months later she has a repeat bone density
test at the same facility using the same instrument. She is reported to have a decrease
in bone mineral density (BMD) compared with the baseline study. Detailed discus-
sion suggests she is taking medication regularly and correctly with no recognizable
adverse effects. What should be done now?
Before starting treatment for osteoporosis, every patient should have a laboratory
evaluation for factors contributing to skeletal fragility, to guide the management plan,
and assure the safety of proceeding with treatment. As examples, a finding of severe
chronic kidney disease would lead to avoidance of bisphosphonates for treatment, and
a finding of a monoclonal antibody might necessitate referral to an oncologist. In this
patient, a thorough baseline evaluation was not done. Laboratory studies now revealed
several abnormalities of importance. A 24-h urine collection showed low calcium of
35 mg while having an adequate calcium intake and normal renal function. Subsequently
testing show high levels of celiac antibodies. A diagnosis of celiac disease was con-
firmed by small bowel biopsy. She was placed on a gluten-free diet and maintained on
the same oral bisphosphonate. A follow-up bone density test 1 year later showed sub-
stantial improvement in BMD consistent with a beneficial effect of therapy.
E. Michael Lewiecki (*)
New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA
© Springer Nature Switzerland AG 2019 1
P. M. Camacho (ed.), Metabolic Bone Diseases,
https://doi.org/10.1007/978-3-030-03694-2_1