Rheumatology Flashcards
A 3-year-old boy presents in early spring with:
- Fever for 6 days
- Bilateral conjunctival injection
- A macular trunk rash that is more prominent in the perineum
- Red pharynx
- Dry fissured lips
- Edema of his hands
What is the diagnosis? What study should he have?
Kawasaki Disease; Echo
This boy has classic Kawasaki disease. It is more common in Asian Americans. Other findings can include strawberry tongue, desquamation of the fingers/toes, and significant cervical lymphadenopathy of at least 1.5 cm in diameter. Children with Kawasaki’s need an echo to evaluate for coronary artery aneurysms.
What type of ANA pattern is seen in children with mixed connective tissue disease?
Speckled ANA
MCTD is associated with the presence of a distinctive autoantibody, anti-U1 RNP. Labs show a high-titer speckled ANA, anti-U1 RNP antibodies, RF, and hypergammaglobulinemia. Diagnosis requires high-titer antibodies against U1 RNP autoantigen.
An 18-year-old male presents with:
- Fever
- Weight loss
- Migratory arthralgias of his hips and knees
- Cough and nasal stuffiness
- Occasional epistaxis
- “Saddle nose”
- Nodules throughout his lungs on CXR
- Elevated creatinine of 2.0 mg/dL
- Positive cytoplasmic ANCA (c-ANCA)
What is the most likely diagnosis?
Granulomatosis with Polyangiitis
(GPA [Formerly Wegener’s])
This boy has classic signs and symptoms of a “pulmonary-renal” syndrome. It can present in adolescence and affects males and females equally. The “saddle nose” is a nasal deformity seen in this disorder. In children, you can also see subglottic stenosis. Renal involvement is uncommon in children at presentation but eventually occurs in 60–70%. c-ANCA is found in > 90% of those with diffuse disease and is a big clue if found in an exam question.
A 14-year-old girl presents with:
- Recurrent parotitis
- Dry eyes
- Conjunctival inflammation
- Dryness of the mouth
- Laboratory positives:
- RF
- ANA
- Anti-Ro
What is the most likely diagnosis?
Sjögren Syndrome (SS)
Always suspect SS in a child with recurrent parotitis. Most cases will present with the recurrent parotitis and keratoconjunctivitis sicca (the dry eyes plus conjunctival inflammation). The laboratory may show any of the listed antibodies, so do not be fooled by seeing a positive ANA and going for sytemic lupus erythematosus (SLE). Remember: she does not have enough criteria for SLE. Also, she has nothing here to make you think of juvenile idiopathic arthritis (JIA), so the positive RF is not because of that.
A 13-year-old boy presents with:
- Sacroiliac joint tenderness
- Enthesitis at the left heel, extremely painful to palpation
- Morning pain and stiffness relieved with activity, and pain in the buttocks
- No fever or weight loss
- Laboratory:
- ESR 12 mm/hr
- HLA-B27 positive
What is the diagnosis?
Enthesitis-Related Arthropathies (ERA)
ERA includes many older groups of disorders such as juvenile spondyloarthropathy; seronegativity, enthesopathy, and arthropathy (SEA) syndrome; and HLA-B27–associated arthropathies. ERA usually affects older children, more commonly boys. By definition, ERA must meet 1 of these 2 diagnostic criteria:
- Arthritis and enthesitis or
- Arthritis or enthesitis with ≥ 2 of the following:
- History or presence of sacroiliac joint tenderness and/or inflammatory lumbosacral pain
- Presence of HLA-B27 antigen
- Onset of arthritis in a male > 6 years of age
- Acute symptomatic uveitis
- A 1st degree relative with ankylosing spondylitis, ERA, sacroiliitis with inflammatory bowel disease, or reactive arthritis
A 7-year-old child presents with:
- Fever to 103.0° F (39.4° C) on a daily basis in the evening
- Rash—described as macular, pink-to-salmon colored with discrete borders—that comes on with the fever
- Synovitis and arthritis of the left knee and the right wrist
- Severe myalgias
- No uveitis
- Hepatosplenomegaly
- Laboratory: WBC 30,000/µL, platelets 850,000/µL, ESR 56 mm/hr, anemia of chronic disease, RF negative, ANA negative
What is the diagnosis?
Systemic Juvenile Idiopathic Arthritis (sJIA)
This is sJIA. The peak age at onset is 2 years of age, with boys and girls equally affected. (Our 7-year-old is not typical but is entirely plausible.) The salmon rash is classic and typically appears with the daily fevers that more commonly occur in the evening. These children may also have diquotidian (twice daily) fever and myalgia. Synovitis must be present to make the diagnosis, although it may not appear initially. Arthritis can be in a few or in multiple joints (more typically), so do not let the low number of joints here fool you. Uveitis is not common, unlike in oligoarticular JIA (oJIA). Hepatosplenomegaly, weight loss, and fatigue are common. The laboratory findings listed are classic for sJIA. The negative ANA helps distinguish this from systemic lupus erythematosus (SLE). You must consider bone and joint infection or hematologic malignancy.
A 4-year-old boy presents in winter after a URI with:
- A rash on the buttocks and lower extremities that began as small wheals and red maculopapules that have become petechial and purpuric
- Periarthritis of the knees and ankles
- Colicky abdominal pain
- Laboratory:
- WBC 25,000/µL
- ESR 58 mm/hr
- Platelets normal
- PT/PTT normal
- Urine with 3–5 RBC/HPF
What is the most likely diagnosis?
Henoch-Schönlein Purpura
(HSP; Anaphylactoid Purpura)
HSP commonly presents with the described rash, periarthritis, colicky abdominal pain, and microscopic hematuria. The WBC and ESR are commonly elevated, whereas platelets and coagulation studies are normal. (IgA levels are also often elevated.)
A 5-year-old girl presents with:
- Morning stiffness that improves with movement later in the morning
- Decreased willingness to play
- No fever
- No joint pain
- Evidence of swelling in left knee and left ankle
- Laboratory: WBC normal, Hgb/Hct normal, platelets mildly elevated, positive ANA (1:160), negative RF, ESR 22 mm/hr
What is the diagnosis? What is the significance of the positive ANA?
Oligoarticular Juvenile Idiopathic Arthritis (oJIA), Additional Risk Factor for Uveitis
This is a classic presentation for oJIA. These patients are usually females 1–5 years of age who present with nonspecific complaints of morning stiffness; decreased willingness to play; and an increased need for assistance with dressing, eating, and bathing. They have no fever and 25% have no joint pain initially, despite some joint swelling. Lab results are typically normal. A mildly elevated platelet count and/or ESR may be the only inflammatory labs seen. Know that oJIA, polyarticular JIA, and positive ANA are independent risk factors for uveitis. This patient has both oJIA and positive ANA.
A 17-year-old girl presents with:
- Recurrent buccal aphthous ulcers
- Painful recurrent genital aphthous ulcers
- Anterior uveitis and papilledema
- Erythema nodosum
- A positive pathergy test
What is the most likely diagnosis?
Behçet Disease
The girl has the classic triad of painful, recurrent oral and genital lesions and inflammatory eye disease. The key finding is buccal aphthous ulcers, which are found in nearly 100% of patients. Erythema nodosum and necrotic folliculitis are common. A pathergy test (prick the skin with a needle, and in 48 hours you see a pustule or papule surrounded by redness) may be positive with Behçet’s.
A newborn presents with:
- Congenital complete heart block
- Macular rash on the scalp and face
Which 2 antibodies did the mother likely have that have affected this newborn?
Anti-SSA (Anti-Ro) and Anti-SSB (Anti-La) Antibodies
This newborn has neonatal lupus as a result of transplacentally acquired maternal antibodies, specifically anti-SSA (anti-Ro) and anti-SSB (anti-La). In mothers with these antibodies, the risk of this happening is < 5–10%, but it is significant enough that the mother and fetus should be followed throughout pregnancy. Postpartum, monitor the infant up to 12 months of age.
A 16-year-old African American girl presents with:
- Pericarditis
- Oral ulcers
- Hemolytic anemia
- Red cell casts on U/A
What is the most likely diagnosis?
Systemic Lupus Erythematosus (SLE)
The patient meets 4 out of 11 of the American College of Rheumatology’s SLE criteria. Pericarditis occurs in 25–35% of patients and is associated with pleuritic disease as well. Oral erosions can occur and are usually painless. Pancytopenia is also common; up to 75% of patients are found to have 1 or more cytopenias, including hemolytic anemia.
A 17-year-old boy with a history of Crohn disease presents with:
- Sacroiliac pain and arthritis
- He is not having a gut flare.
- He is known to be HLA-B27 positive.
What is the diagnosis of his arthritis?
Arthritis with Inflammatory Bowel Disease (IBD)
Arthritis occurs in 25% of patients with IBD (Crohn’s or ulcerative colitis). The arthritis has the following characteristics:
- If peripheral joints are affected (more commonly):
- Equally common in boys and girls
- Not associated with HLA-B27
- Presents with gut flares
- If axial in nature:
- More common in boys
- Associated with HLA-B27
- Not associated with gut flares
A 15-year-old girl presents with:
- Multiple areas of pain (sometimes sharp and sometimes dull) that have occurred for the last year or so
- Stiffness in the morning that improves with minimal activity
- Sleep that is not restful
- Fatigue
- On physical examination, you find the following tender areas on digital palpation:
- Bilateral trapezius muscle midpoint
- Bilateral supraspinatus at the origin of the scapula near the medial border
- Bilateral lateral epicondyle 2 cm distal to the epicondyle
- Bilateral gluteal area in the upper outer quadrants
- Bilateral medial fat pad of the knee
What is the most likely diagnosis?
Fibromyalgia
This is the classic presentation for fibromyalgia. For adults, newer diagnostic criteria have been developed that do not involve the trigger points described, but as of this publication, these have not been validated in children. For the exam, look out for an adolescent girl with these findings.
A 6-year-old girl presents with:
- A faint purple-to-red discoloration of her eyelids (Her parents initially thought it was play makeup.)
- Exposure to sunlight makes the discoloration of the eyelids worse.
- Arthralgias
- Symmetric proximal muscle weakness
- Laboratory:
- CK elevated
- LDH elevated
What is the most likely diagnosis?
Juvenile Dermatomyositis (JDM)
For diagnosis, you need the heliotrope rash (the eyelid findings with photosensitivity) or Gottron papules; these must be present. Other needed findings include the symmetric proximal muscle weakness along with elevated CK, aldolase, LDH, or transaminases. Having muscle weakness and these lab abnormalities puts you in the “probable” category, which you would follow up with MRI and/or muscle biopsy.
A 12-year-old girl with a history of Salmonella diarrhea 2 weeks ago presents with:
- Fever
- Conjunctivitis
- Oral ulcers
- White blood cells seen in her microscopic urine test
- Arthritis of her left knee and left hip
What is the diagnosis?
Reactive Arthritis
Reactive arthritis occurs 1–4 weeks after a GI infection with Yersinia, Shigella, Salmonella, or Campylobacter, or after a GU infection caused by Chlamydia or Mycoplasma. Other organisms, such as Clostridium difficile and Giardia, can also trigger the illness. The classic triad (not typically seen in younger children) of urethritis, conjunctivitis, and arthritis has the mnemonic, “can’t pee, can’t see, can’t climb a tree.” Urethritis occurs even if the infectious trigger was GI in origin; urinalysis may show a sterile pyuria.
