One-Time DNA Study for Vasculitis

The purpose of this study is to identify genes that increase the risk of developing
vasculitis, a group of severe diseases that feature inflammation of blood vessels. Results
of these studies will provide vasculitis researchers with insight into the causes of these
diseases and generate new ideas for diagnostic tests and therapies, and will be of great
interest to the larger communities of researchers investigating vasculitis and other
autoimmune, inflammatory, and vascular diseases.

Eligibility Criteria

Inclusion Criteria:

1. Diagnostic criteria for Giant Cell Arteritis Age at disease onset >50 years (required)

1. New onset or new type of localized pain in the head

2. Temporal artery abnormality (i.e. temporal artery tenderness to palpation or
decreased pulsation, unrelated to arteriosclerosis of cervical arteries)

3. ESR of >40mm in the first hour by the Westergren method

4. Abnormal artery biopsy (i.e. temporal artery biopsy showing vasculitis characterized
by a predominance of mononuclear cell infiltration or granulomatous inflammation,
usually with multinucleated giant cells)

5. Large Vessel Vasculitis (LVV) by angiogram or biopsy not explained by something else

Inclusion Criteria:

2. Diagnostic criteria for Takayasu's Arteritis

1. Age at disease onset <50 years

2. Claudication of extremities

3. Decreased brachial artery pulse (one or both arteries)

4. Blood pressure difference of >10mm Hg between the arms

5. Bruit over subclavian arteries or aorta

6. Arteriogram abnormalities compatible with TAK (includes conventional dye angiography
or MR angiography or CT angiography)

Inclusion Criteria:

3. Diagnostic criteria for Polyarteritis Nodosa Major criteria (not explained by other
causes) felt by investigator to be due to vasculitis

1. Arteriographic abnormality

2. Presence of granulocyte or mixed leukocyte infiltrate in an arterial wall on biopsy

3. Mononeuropathy or polyneuropathy

Minor criteria (not explained by other causes) felt by investigator to be due to

1. Weight loss > 4 kg

2. Livedo reticularis, cutaneous ulcerations, or skin nodules

3. Testicular pain or tenderness

4. Myalgias

5. Diastolic blood pressure > 90 mm Hg

6. Elevated BUN or serum creatinine levels

7. Ischemic abdominal pain

Isolated cutaneous Polyarteritis Nodosa 1. Biopsy-proven cutaneous PAN

Inclusion Criteria:

4. Diagnostic criteria for Granulomatosis with Polyangiitis (Wegener's) (GPA) and
Microscopic Polyangitis (MPA)

- Diagnosis of GPA or MPA. Widely accepted diagnostic criteria, as opposed to
classification criteria or definitions, have not been developed for GPA & MPA.

- For diagnosis of GPA meets at least 2 of the following 5 modified ACR criteria:

1. Nasal or oral inflammation with oral ulcers or nasal discharge with pus or blood

2. Abnormal chest radiograph with nodules, fixed infiltrates, or cavities

3. Urinary sediment with microhematuria or red cell casts

4. Granulomatous inflammation within the wall of an artery or in the perivascular
area on biopsy

5. Antineutrophil cytoplasmic antibody (ANCA) positive by enzyme immunoassay for
either PR3- or MPO-ANCA

- For diagnosis of MPA, meets the Chapel Hill Consensus Conference Definition for MPA:

1. Necrotizing vasculitis, with few or no immune deposits, that affects small
vessels (i.e., capillaries, venules, arterioles)

2. Necrotizing arteritis involving small- and medium-sized arteries may be present

3. Necrotizing glomerulonephritis is very common

4. Pulmonary capillaritis often occurs

Inclusion Criteria:

5. Diagnostic criteria for Eosinophilic Granulomatosis with Polyangiitis

1. Asthma

2. Peak peripheral blood eosinophilia of >10% of total WBC

3. Peripheral neuropathy attributable to vasculitis

4. Transient pulmonary infiltrates on chest imaging studies

5. Paranasal sinus abnormalities or nasal polyposis

6. Eosinophilic inflammation on tissue biopsy

If patients have 4 of the above 6 criteria but lack clearcut documentation of
small vessel vasculitis, they are also eligible for enrollment.

General Exclusion Criteria:

- Inability to give informed consent and to sign the consent form

- Enrolled in VCRC protocols 5502, 5503, 5504, 5505, 5506, 5522, or 5523

- Unwilling to provide blood for DNA collection

Principal Investigator

Peter Merkel, MD, MPH

Study Contact

Caitlin McMillian,

Estimated Completion Date

Wednesday, August 1, 2018 #