Rheumatic Rarities

Contents

Foreword xiiiMichael H. Weisman

Preface xvJonathan Kay

Behcet’s Syndrome 245Gulen Hatemi, Yusuf Yazici, and Hasan Yazici

Behcet’s syndrome (BS) shows a peculiar distribution, with a much higherprevalence in countries along the ancient Silk Road compared with rest ofthe world. BS also seems to follow a more severe course in ethnic groupswith higher prevalence. Diagnosis depends on clinical findings. Criteriasets may not help in patients with less frequent types of involvement. Man-agement strategies should be modified according to the age and sex of thepatient and the organs involved. Being a serious health problem inendemic areas, BS also attracts global attention as a model to studyinflammatory diseases of unknown cause.

Relapsing Polychondritis 263Ratnesh Chopra, Nida Chaudhary, and Jonathan Kay

Relapsing polychondritis (RP) is a rare systemic autoimmune disease char-acterized by episodic, progressive inflammatory destruction of cartilage. Itcan occur as an overlap syndrome in patients with other rheumatologicconditions. The disease usually follows an indolent relapsing-remittingcourse, but occasionally it can progress rapidly and even cause death.Although auricular or nasal chondritis or peripheral arthritis without othersignificant organ involvement are usually treated with low-dose corticoste-roids, other more severe disease manifestations may require treatmentwith high-dose corticosteroids or other immunosuppressive agents. Bio-logical targeted therapies might prove to be effective treatments of thiscondition.

Extrapulmonary Manifestations of Sarcoidosis 277Deepak A. Rao and Paul F. Dellaripa

Sarcoidosis is a systemic disease characterized by the development ofepithelioid granulomas in various organs. Although the lungs are involvedin most patients with sarcoidosis, virtually any organ can be affected. Rec-ognition of extrapulmonary sarcoidosis requires awareness of the organsmost commonly affected, such as the skin and the eyes, and vigilancefor the most dangerous manifestations, such as cardiac and neurologicinvolvement. In this article, the common extrapulmonary manifestationsof sarcoidosis are reviewed and organ-specific therapeutic considerationsare discussed.

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Erdheim-Chester Disease 299Julien Haroche, Laurent Arnaud, Fleur Cohen-Aubart, Baptiste Hervier,Frederic Charlotte, Jean-Francois Emile, and Zahir Amoura

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans’ cell his-tiocytosis. Diagnosis of ECD is basedon the identification in tissuebiopsy ofhistiocytes, which are typically foamy and immunostain for CD681CD1a�.Central nervous system involvement is a major prognostic factor in ECD.Interferon alphamaybe thebest first-line therapy and significantly improvessurvival of ECD. The BRAFV600E mutation is found in more than 50% ofcases. Vemurafenib has been used for a small number of patients harbour-ing this mutation; inhibition of BRAF activation by vemurafenib was highlybeneficial in these cases of severe multisystemic and refractory ECD.

Whipple’s Disease 313Sergio Schwartzman and Monica Schwartzman

This article reviews the microbiology, pathophysiology, epidemiology, clin-ical manifestations, diagnostic testing, and treatment of Whipple’s dis-ease, an illness caused by Tropheryma whipplei and characterized bymultivariate clinical manifestations including an inflammatory arthropathy.Diagnosis is confirmed by tissue sampling with periodic acid-Schiff stain-ing and/or polymerase chain reaction. Clinical manifestations most fre-quently manifest in the gastrointestinal tract, musculoskeletal system,neurologic system, heart, and eyes, but can affect any site. Successfultherapy with appropriate antibiotics is potentially curable, but recurrencesmay occur.

Amyloidosis: A Clinical Overview 323Bouke P.C. Hazenberg

Amyloidosis is the name for protein-folding diseases characterized byextracellular deposition of a specific soluble precursor protein that aggre-gates in the form of insoluble fibrils. The classification of amyloidosis isbased on the chemical characterization of the precursor protein. Deposi-tion of amyloid is localized or systemic. The 4 main types of systemicamyloidosis are AL, AA, ATTR, and Ab 2M type. A schematic approachis proposed for the clinical management of systemic amyloidosis. Theimportance of typing amyloid with confidence, the usefulness of imagingtechniques, the principles of treatment, and the need for well-plannedtreatment monitoring during follow-up are discussed.

Localized Cutaneous Fibrosing Disorders 347Aaliya Yaqub, Lorinda Chung, Kerri E. Rieger, and David F. Fiorentino

This article acquaints the reader with disorders of the skin that might mimicsystemic sclerosis but whose pathology is localized to the skin and/or hasextracutaneous manifestations that are different than systemic sclerosis.These disorders include localized scleroderma (morphea), eosinophilicfasciitis, scleredema, scleromyxedema, nephrogenic systemic fibrosis,and chronic graft-versus-host disease. Particular emphasis is placed onclinical and histopathologic features that help the clinician differentiatebetween these disorders. Treatment options are briefly reviewed.

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Retroperitoneal Fibrosis 365Paul J. Scheel Jr and Nancy Feeley

Retroperitoneal fibrosis (RPF) is a condition characterized by the presenceof inflammation and fibrosis in the retroperitoneal space, for which nostandard diagnostic criteria exist. Historically, treatment has focused onrelieving the obstruction with percutaneous or cystoscopic assisted place-ment of ureteral stents followed by more definitive resolution of uretericobstruction with open or laparoscopic ureterolysis. However, over thepast several years management has shifted from primarily a surgicalapproach to an immunosuppressive-based therapy aimed at modulationof the immune system. This review focuses on the recent advances inthe classification, epidemiology, pathophysiology, pathology, imaging,and treatment of RPF.

Hypertrophic Osteoarthropathy:What a Rheumatologist Should KnowAbout thisUncommon Condition 383Carlos Pineda and Manuel Martınez-Lavın

This article presents an updated overviewof hypertrophic osteoarthropathyand digital clubbing for the practicing rheumatologist. Discussion includesa brief historical perspective, its definition, incidence and prevalence, clas-sification, pathology and pathophysiology, clinical manifestations, demo-graphics, findings on physical examination, imaging techniques for itsdetection, differential diagnosis, and treatment modalities.

SAPHO Syndrome 401Sueli Carneiro and Percival D. Sampaio-Barros

SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulo-sis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifesta-tions often do not occur simultaneously and there are no validateddiagnostic criteria, the diagnosis can be difficult. Clinical and imaging in-vestigation is necessary to establish the many differential diagnoses ofSAPHO syndrome. The etiopathogenesis involves infectious (probablyPropionibacterium acnes), immunologic, and genetic factors. Treatmentis based on information gathered from case reports and small series,and is related to specific skin or articular symptoms.

Joint Hypermobility Syndrome 419Asma Fikree, Qasim Aziz, and Rodney Grahame

Although perceived as a rare condition, joint hypermobility syndrome iscommon. Its prevalence in rheumatology clinics is extremely high. Earlyestimates suggest that it may be the most common of all rheumatologicconditions. The problem lies in the general lack of awareness of the syn-drome, its means of recognition, and the resultant failure to diagnose itcorrectly when present. It is a worldwide problem. This article providesan overview of hypermobility and hypermobility syndrome, stressing itsmultisystemic nature and the negative impact that it may have on qualityof life, with particular reference to gastrointestinal involvement.

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Mucopolysaccharidoses and Other Lysosomal Storage Diseases 431Christina Lampe, Cinzia Maria Bellettato, Nesrin Karabul, and Maurizio Scarpa

Mucopolysaccharidosis and other lysosomal storage diseases are rare,chronic, and progressive inherited diseases caused by a deficit of lyso-somal enzymes. Patients are affected by a wide variety of symptoms.For some lysosomal storage diseases, effective treatments to arrest dis-ease progression, or slow the pathologic process, and increase patientlife expectancy are available or being developed. Timely diagnosis is cru-cial. Rheumatologists, orthopedics, and neurologists are commonly con-sulted due to unspecific musculoskeletal signs and symptoms. Pain,stiffness, contractures of joints in absence of clinical signs of inflammation,bone pain or abnormalities, osteopenia, osteonecrosis, secondary osteo-arthritis or hip dysplasia are the alerting symptoms that should induce sus-picion of a lysosomal storage disease.

Noninflammatory Myopathies 457Alan N. Baer and Robert L. Wortmann

The noninflammatory myopathies are a diverse group of diseases, some ofwhich may mimic the autoimmune-mediated idiopathic inflammatorymyopathies in their clinical presentation. They include certain metabolic,toxic, and infectious myopathies, as well as muscular dystrophies. Inaddition to muscle weakness, these forms of myopathy may presentwith exercise intolerance and muscle pain. Special testing techniquesare often required to establish the diagnosis. This review focuses on thosenoninflammatory myopathies that should be included in the differentialdiagnosis of idiopathic inflammatory myopathy.

Lipid-Associated Rheumatologic Syndromes 481Eyal Kedar and Gregory C. Gardner

Rheumatologic manifestations of hyperlipidemia and lipid-associatedarthritis are rarely seen in the rheumatologist’s office. On the other hand,a rheumatologist may be the clinician who identifies and initiates propertherapy for disorders related to hyperlipidemia when the musculoskeletalmanifestations of these syndromes are recognized. In this article boththe joint and tendon manifestations are reviewed, including the lesserknown lipid liquid crystal form of arthritis. The relationship between goutand hyperuricemia is briefly discussed, as are the autoimmune manifesta-tions of lipid-lowering therapy.

Index 495