Term
| Name common causes of acute vs chronic urticaria. |
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Definition
Acute:
foods, insect stings, meds, viral infxn, contact, transfusion reaction
Chronic: idiopathic, autoimmune, physical, urticarial vasculitis, infxn, cryopyrinopathies, |
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Term
| Connective Tissue Diseases and Urticaria |
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Definition
SLE: <10% of pts, mostly urticarial vasculitis
Sjogren's: mostly urticarial vasculitis
Cryoglobulinemia: hepatitis C |
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Term
Neoplasms and Urticaria
What is Schnitzler Syndrome?
What is the TX of Schnitzler's? |
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Definition
Cancer is an uncommon cause of hives. Cancers assoc with hives have included:
B-cell lymphomas, Hodgkin's and carcinomas (lung, colorectal, liver)
Schnitzler's Syndrome:
IgM monclonal paraproteinemia
Initially nonpruritic hives
Intermittent spiking fever
Arthralgias, bone pain, hyperostosis
Lymphadenopathy
TX: Anakinra |
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Term
| Parasites can be assoc with hives. Can you name any of these helminths? |
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Definition
Ascaris
Ancylostoma
Strongyloides
Filaria
Echinococcus
Schistosoma
Trichinella
Toxocara
Fasciola
Usually assoc'd with eosinophilia |
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Term
Cold Urticaria:
1. Describe clinical syndrome
2. What is the risk factor for severe disease?
3. What is the diagnostic test?
4. What is the drug of choice? |
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Definition
1. Hives on cold-exposed areas of body
2. Pts with oropharyngeal edema after cold drinks are at high risk for shock from swimming in cold water. BUMMER!
3. Ice cube test
4. Cyproheptadine (also H1 blockers work too) |
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Term
Describe the mediator(s) and immune mechanism of idiopathic cold urticaria.
Can it be passively transferred? |
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Definition
Histamine peaks 4-8 minutes after cold exposure.
It is antibody mediated and passively transferred. IgE, IgE, IgM |
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Term
| Name the 5 Cold Urticaria Syndromes |
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Definition
1. Idiopathic (most common)
2. Secondary forms: cold-dependent immunoglobulin diseases, eg cryolubulinemia, cold agglutinin disease, cryofibrinogenemia, paroxysmal cold hemoglobinuria, cold hemolysis
3. Delayed cold urticaria (9-18 hrs after cold exposure; not passively transferred)
4. Localized cold urticaria (predisposing factors: cold injury, IT injection site, insect bite)
5. Localized cold reflex urticaria (ice cube test only positive in the vicinity of the contact site) |
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Term
| Name the Ice Cube Test Negative Cold Urticaria Syndromes |
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Definition
1. cold-induced cholinergic urticaria (exercise in cold air)
2. Systemic cold urticaria (unrelated to exercise)
3. Cold-dependent dermographism
4. Familial cold autoinflammatory syndrome |
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Term
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Definition
Very rare
Test tube of water at 44C to arm for 5 minutes---> hives form in a few minutes |
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Term
Cholinergic Urticaria
1. Epidemiology
2. Triggers
3. Associated symptoms |
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Definition
1. Teens, young adults
2. Heat, exercise, stress
3. Other cholinergic sx: lacrimation, salivation, diarrhea. May also have wheezing. Sometimes no skin lesions are visible (cholinergic pruritis) |
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Term
Cholinergic urticaria
Describe mechanisms: neurogenic reflex and autologous sweat sensitivity |
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Definition
Nerogenic reflex: Placing hand in warm water with proximal tourniquet: no hives. Removing tourniquet leads to generalized hives.
Autologous sweat sensitivity: sweat causes basophil degranulation |
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Term
| Follicular vs Non-follicular Cholinergic Urticaria |
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Definition
Follicular: weak/no response to autologous sweat. No satellite wheals to acetylcholine skin test. Positive autologous serum skin test
Non-follicular: most common, hypersentivitiy to autolougous sweat, satellite wehals to acetylcholine skin test, negative autologous serum skin test |
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Term
| Cholinergic Urticaria: DX and TX |
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Definition
DX: Challenge by exercise or hot water (44C).
TX: hydroxyzine (drug of choice) |
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Term
| Cholinergic Urticaria with Hypotension: how does it contrast with Exercise-Induced Anaphylaxis? |
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Definition
Increase in core body temp > 0.7C causes histamine release, hives and anaphylaxis.
NOTE: Pts with EIAnwill not react upon passive heating. |
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Term
Delayed Pressure Urticaria (Angioedema)
1. Time course
2. Areas of involvement
3. DX
4. TX |
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Definition
1. Onset of sx 4-6 hrs after pressure stimulus
2. Hands, feet, buttocks most common. Often associated with non-pressure induced chronic urticaria.
3. Sandbag test (5-15 lb weight applied for 10-20 minutes
4. Corticosteroids. Usually unresponsive to H1 blockers |
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Term
Dermographism
1. Subtypes
2. Immune mechanisms
3. Associations |
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Definition
1.
Simple (non-pruritic, affects 2-5% of population)
Symptomatic (pruritic)
2. Can be passively transferred and some pts have elevated baseline histamine
3. Psych stressors, antibiotics, contact dermatitis, other physical urticarias, mastocytosis |
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Term
Solar Urticaria
1. Clinical features
2. Pathogenesis: Type 1 vs Type 2
3. DX |
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Definition
1. exposure to UV radiation causes hives, burning and itching in 5-10 minutes. Dermographism common. Systemic sx have been reported. Another BUMMER!
2. IgE to circulating photoallergen (chromophore activated by light)
Type 1: IgE to abnl chromophore
Type 2: IgE autoantibody to normal chromophore
3. Phototesting with variable light sources |
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Term
Aquagenic Urticaria
1. Clinical features
2. DX |
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Definition
1. Very rare. Familial and localized forms exist. Lesions look like cholinergic urticaria. Systemic sx (headache and resp sx) may occur. Assoc'd with dermographism.
2. Water compress at 35C applied to the skin. |
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Term
Vibratory Angioedema
1. Clinical Features
2. DX |
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Definition
1. Rare. Familial and non-familial forms. Local pruritus, erythema, swelling within minutes of stimulus. Resolves in 24 hrs.
2. Forearm on vortex mixer for 5 minutes |
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Term
Chronic Autoimmune Urticaria
Name the antibodies and role of C5a
How to test for this? |
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Definition
Up to 40% of CIU has autoimmune cause.
Thyroid autoantibodies > 20% of pts
anti-thyroid peroxidase > anti-thryoglobulin antibody
IgG or IgM against high-affinity IgE receptor alpha chain. (Rarely anti-IgE antibodies)
C5a agument histamine release by IgE
Testing: autologus serum or plasma skin test and basophil histamine release |
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Term
| Name 3 hereditary urticaria or angioedema syndromes |
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Definition
1. Hereditary vibratory angioedema
2. Factor I deficiency
3. Hereditary Angioedema |
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Term
Factor I Deficiency (C3b inactivator)
1. Inheritance pattern
2. Skin manifestations
3. Which complement component is decreased? |
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Definition
!. Autosomal recessive
2. May present with urticaria
3. C3 |
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Term
Angioedema
1. How often is is assoc w/urticaria?
2. Does presence of angioedema help with diagnosis or classification of urticaria?
3. What etiologies should you consider for angioedema without urticaria? |
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Definition
1. 50% of cases
2. No
3. Consider bradykinin-mediated causes, namely C1-esterase inhibitor deficiency syndromes or ACE-inhibitor angioedema. |
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Term
ACE-inhibitor Angioedema
1. Who is most ocmmonly affected?
2. Is onset usually immediate or delayed?
3. What is the mediator?
4. Can affected pts use angiotensin receptor blockers (ARBs)?
5. What is the most common area of involvement? |
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Definition
1. African-Americans
2. Delayed (mean 1.8 yrs)
3. Des-Arg bradykinin (ACE activates bradykinin and angiotensin I)
4. Usually, but there are case reports of angioedema with ARBs too.
5. Usually above neck |
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Term
C1-inhibitor (serpin family)
1. Name 6 things it significantly inhibits in the complement, coagulation and contact systems. |
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Definition
1. C1s (classical pathway)
2. C1r (classical pathway)
3. MASPs (lectin pathway)
4. Factor XIa (coagulation)
5. Factor XIIa (contact system)
6. kallikrein (contact system) |
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Term
HAE:
1. inheritance pattern
2. clinical features
3. Associated conditions |
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Definition
1. Autosomal dominant
2. Sx progress over 24-48 hrs and resolve over the next 48 hours. No urticaria or pruritus. May cause severe GI pain, N/V/D.
3. SLE, erythematous mottling, erythema multiforme, erythema marginatum |
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Term
| What is the major mediator in HAE? |
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Definition
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Term
Acquired Angioedema
1. How does age of onset compare to HAE?
2. What are the mechanisms of Type 1 and Type 2 and how are C1-inhibitor levels affected? |
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Definition
1. Later (acquired usually starts during/after 4th decade)
2. 2 mechanisms:
Type 1: Paraneoplastic. Increased consumption of C1-inhibitor (cancer consumes C1-inh so C1-inh is low). B cell lymphoproliferative disease and monoclonal gammopathy of unknown significance (MGUS)
Type 2: Autoimmune. Activation of classical complement (autoantibodies impair C1-inh fxn so C1-inh levels can be low or normal) |
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Term
Labs in HAE and Acquired AE
Know how C1-inh level, C1-inh fxn, C1q, C4 and C3 are affected. |
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Definition
HAE-I: low C1-inh level, fxn, C4. Normal C1q, C3.
HAE-II: Nl or increased C1-inh level but decreased fxn. Low C4. Nl C1q, C3.
HAE-III: all parameters are normal
AAE-I: low C1-inh level, fxn, C1q, C4. Normal or low C3.
AAE-II: Low or normal C1-inh level, C1q, C3. Low C1-inh fxn, C4. |
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Term
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Definition
1. Treat underlying disease
2. Antifibrinolytics
3. C1-inh concentrate: may require higher doses and be more resistant to treatment than for HAE
NOTE: AAE is frequently resistant to androgens. |
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Term
| Name the autoinflammatory syndromes (there are 10 of them!) |
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Definition
CAPS
Familial Mediterranean Fever
Hyper IgD Syndrome
TRAPS
PGA
PAPA
Majeed syndrome
Cherubism
FCAS2
DIRA |
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Term
NALP3 Inflammasome
1.What is it?
2. What does it cause?
3. What are its triggers? |
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Definition
1. NALP3 is a pathogen recognition receptor of the NLR receptor family. It forms complexes called inflammasomes.
2. Increased caspase-1 mediated IL-1 beta processing and secretion.
3. "Danger signals": microbial components, crystalline structures (asbestos, silica), uric acid, ATP, DNA and RNA fragments |
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Term
Cryopyrin Associaed Periodic Syndromes (CAPS)
1. What is the mutation and what disorders does it cause?
2. What is the inheritance pattern?
3. What are the skin manifestations? |
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Definition
1. Mutation in NLRP3 (aka CIAS1--cold-induced autoinflammatory syndrome 1 gene). The mutation causes Familial cold autoinflammatory syndrome, Muckle-Wells syndrome, NOMID
2. All autosomal dominant
3. urticarial-like rash (burns/stings but doesn't itch) with neutrophilic dermal infiltrate |
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Term
Familial Cold Urticaria aka Familial Cold Autoinflammatory Syndrome (FCAS)
1. What is the mutation?
2. What are the clinical manifestations?
3. Is the ice cube test negative or positive? |
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Definition
1. Mutation in cold-induced autoinflammatory syndrome 1 gene (CIAS1)
2. Symptoms upon cold exposure last 12-48 hrs. Burning papular lesions (pseudourticaria), fever, chills, arthralgias, myalgias, conjunctivitis, headache, leukocytosis
3. negative |
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Term
Muckle-Wells Syndrome
1. What is the mutation?
2. What are the clinical manifestations? |
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Definition
1. Mutations in CIAS1
2. Fever, pseudourticaria (burning papular lesions), arthritis (usually continuous and not triggered by cold), conjunctivitis, episcleritis, optic disc edema, renal amyloidosis, deafness |
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Term
Neonatal-onset multisystem inflammatory disease (NOMID)aka chronic infantile neurologic cutaneous articular syndrome
1. What is the gene mutation?
2. Clinical features |
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Definition
1. Most kids have mutations in CIAS1.
2. Pseudourticaria (burning, papular lesions) in first 6 wks of life), bony overgrowth, CNS manifestations (chronic aseptic meningitis, mental retardation, cerebral atrophy, chronic papilledema, sensorineural hearing loss |
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Term
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Definition
IL-1 receptor antagonist: anakinra
Also long-acting IL-1 inhibitors: rilonacept, canakinumab |
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Term
Familial Mediterranean Fever
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical features |
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Definition
1. Mutation in pyrin
2. Auto recessive
3. Erysipeloid erythema, abd pain, arthritis, pleuritis, amyloidosis |
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Term
Hyper IgE Syndrome
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical manifestations |
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Definition
1. Mutations in mevalonate kinase
2. Auto recessive
3. Maculopapular rash, abd pain, cervical adenitis |
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Term
TNF Receptor Associated Periodic Syndrome (TRAPS)
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical features |
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Definition
1. Mutation in TNFRSF1A
2. Auto dominant
3. Fever, abd pain, pleurisy, migrating erythema, periorbital edema, conjunctivitis, amyloidosis |
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Term
Pediatric Granulmatous Arthritis (PGA)aka Blau Syndrome, early onset sarcoidosis
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical features |
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Definition
1. Mutation in CARD15 (NOD2)
2. Auto dominant
3. Fever, granulomatous arthritis, uveitis, erythmatous papular rash, camptodactyly (permanently bent fingers) |
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Term
Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA)
1. what is the mutation?
2. What is the inheritance pattern? |
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Definition
1. Mutation in CD2BP1
2. auto dominant |
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Term
Majeed Syndrome
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical manifestations |
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Definition
1. Mutations in LPIN2
2. Auto recessive
3. Bones, periosteum, anemia |
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Term
Cherubism
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical features |
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Definition
1. Mutation in SH3BP2
2. Auto dominant
3. Jaws, eyes |
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Term
FCAS2
1. What is the mutation?
2. What is the inheritance pattern?
3. clinical features |
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Definition
1. Mutation in NLRP12
2. Auto dominant
3. Skin, hearing, joints, apthous ulcers |
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Term
Deficiency of IL-1Ra (DIRA)
1. What is the mutation?
2. What is the inheritance pattern?
3. Clinical features |
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Definition
1. Mutation in IL1RN
2. Auto recessive
3. Pustulosis, multifocal osteomyelitis, similar to NOMID but no CNS or inner ear involvement |
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