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Table 12 Rare infectious/parasitic diseases

From: Rare diseases: What rheumatologists need to know?

Disease

Etiology

Transmission

Clinical features

Laboratory tests

Treatment

Whipple disease

T. whipplei

Exposure to contaminated soil

Weight loss, diarrhea, fever, lymphadenopathy, skin hyperpigmentation, arthritis, heart failure, CNS involvement (oculomasticatory myorhythmia or oculo-facio-skeletal myorhythmia)

PAS test from duodenal/jejunal biopsy tissue; Positive T. whipplei PCR in stools, CSF, or saliva

Ceftriaxone or Meropenem 2 weeks, co-trimoxazole or doxycycline with hydroxychloroquine for 1 year. Corticosteroids with IRIS present

Lyme disease

B. burgdorferi

Tick-borne (I. scapularis or I. pacificus) in USA, Europe, and Asia

Erythema migrans (bull- eye pattern), arthritis, myocarditis, peripheral nervous system, facial palsy, meningoencephalitis, chronic fatigue syndrome; Autoimmune and allergic diseases development

ELISA IgM and IgG for B. burgdorferi, western blot IgM and IgG for B. burgdorferi

Ceftriaxone intravenously for severe features. Doxycycline or amoxicillin for mild features

Baggio-Yoshinari syndrome¶

B. burgdorferi sensu stricto spirochetes

Tick-borne (A. cajennense or R. sanguineus or D. nitens) in Brazil

Erythema migrans (bull-eye pattern), arthritis, myocarditis, peripheral nervous system, facial palsy, meningoencephalitis, chronic fatigue syndrome; Autoimmune and allergic diseases development

ELISA IgM and IgG, western blot IgM and IgG for B. burgdorferi adopted in LIM-17 HCFMUSP standardization

Ceftriaxone intravenously for severe features. Doxycycline or amoxicillin for mild features

Garin-Bujadoux-Bannwarth syndrome

B. garinii

Tick-borne (I. scapularis) in Europe.

Painful radiculitis, peripheral motor deficits, lymphocytic meningoencephalitis, and facial palsy

Increase of lymphocytes and protein in CSF. ELISA IgM and IgG for B. burgdoferi, western blot IgM and IgG for B. burgdorferi (lack of standardization)

Ceftriaxone intravenously

Acrodermatitis chronica atrophicans

B. afzelii

Tick-borne (I. scapularis) in Europe

Extensive skin atrophy with a shiny appearance or “cigarette paper skin”; Peripheral neuropathy and/or arthropathy

ELISA IgM and IgG for B. burgdorferi, western blot IgM and IgG for B. burgdorferi (lack of standardization)

Doxycycline or amoxicillin or ceftriaxone.

  1. A. cajennense Amblyomma cajennense, B. afzelli Borrelia afzelii, B. burgdorferi Borrelia burgdorferi, B. garinii Borrelia garinii, Baggio-Yoshinari syndrome¶ also known as Brazilian Lyme disease-like illness, CNS central nervous system, CSF cerebrospinal fluid, D. nitens Dermacentor nitens, LIM-17 HCFMUSP Laboratórios de Investigação Médica 17 Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, PAS periodic acid-Schiff, PCR polymerase chain reaction, ELISA enzyme-linked immunosorbent assay, I. scapularis Ixodes scapularis, I. pacificus Ixodes pacificus, IgG immunoglobulin G, IgM immunoglobulin M, R. sanguineus Rhipicephalus sanguineus, T. whipplei Tropheryma whipplei