Rare Disorders

Rare Disorders - HES/SM/HLH/Porphyrias

Rare Disorders HLH

How long should you wait during the induction for HLH before you switch to a salvage regimen if there is no evidence of improvement ?

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2 to 3 weeks

Rare Disorders HLH
Rare Disorders HLH

Does dexamethasone need to be tapered over the course of the 8-week treatment schedule per the HLH-94 protocol ?

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Yes

Rare Disorders HLH
Rare Disorders HLH

What percent of HLH patients will have neurologic involvement?

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33%

Rare Disorders HLH
Rare Disorders HLH

What is the prognosis and HLH patients who have progressive hypoxic failure?

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Very poor nearly 90% mortality

Rare Disorders HLH
Rare Disorders HLH

Is sCD25 the alpha or beta chain of IL-2R ?

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Alpha

Rare Disorders HLH
Rare Disorders HLH

Which antibody should be added to the preoperative regimen for adults undergoing stem cell transplant for HLH?

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Alemtuzumab

Rare Disorders HLH
Rare Disorders HLH

What can worsen the cytopenias in patients being treated with etoposide for HLH ?

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low albumin levels

Rare Disorders HLH
Rare Disorders HLH

Which agent could be added to the HLH treatment backbone if there are persistent neurologic symptoms despite treatment with steroids and etoposide?

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Intrathecal methotrexate

Rare Disorders HLH
Rare Disorders HLH

Should stem cell transplantation be considered in adults with an identified genetic cause of HLH in remission?

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yes

Rare Disorders HLH
Rare Disorders HLH

Can a stem cell transplant can be used if the patient is still actively hemophacytosing ?

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No

Rare Disorders HLH
Rare Disorders HLH

Are there prospective trials guiding the proper treatment of HLH in adults?

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No

Rare Disorders HLH
Rare Disorders HLH

Which chemotherapy agent is most active in HLH ?

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Etoposide (atop steroids)

Rare Disorders HLH
Rare Disorders HLH

Stem cell transplant should be considered with relapsed / refractory HLH cases except those with ?

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Rheumatologic disorder

Rare Disorders HLH
Rare Disorders HLH

What is the sensitivity and specificity of using a ferritin greater than 10000 ug/L as a cutoff for diagnosing HLH?

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90% sensitive and more than 95% specific

Rare Disorders HLH
Rare Disorders HLH

What are the listed variables in the HLH 2004 criterion?

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Fever splenomegaly cytopenias ( hgb <8 plt <100 ANC <1000) hypertriglyceridemia / hypofibrinogenemia as well as hemophagocytosis on the bone marrow / spleen / lymph nodes along with low / absent NK cell activity elevated ferritin (>500) and sCD25 (>2400)

Rare Disorders HLH
Rare Disorders HLH

What are some common infectious organisms associated with HLH?

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EBV and Mycobacterium

Rare Disorders HLH
Rare Disorders HLH

What is the most common subtype NHL associated seen with HLH?

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T-cell lymphoma

Rare Disorders HLH
Rare Disorders HLH

What is the most common malignancy associated with HLH?

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Non-Hodgkin’s lymphoma

Rare Disorders HLH
Rare Disorders HLH

Which autoimmune disease is HLH most commonly associated with?

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Adult onset still disease as well as lupus and juvenile arthritis

Rare Disorders HLH
Rare Disorders HLH

What defines macrophage activation syndrome?

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HLH in the context of autoimmune disease

Rare Disorders HLH
Rare Disorders HLH

What are the 2 common conditions during which secondary – acquired HLH occurs?

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In the setting of immunodeficiency or underlying malignant autoimmune or infection

Rare Disorders HLH
Rare Disorders HLH

Which inherited congenital immune deficiency syndromes can also develop HLH?

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LYST (Chediak – Higashi syndrome) as well as Hermansky-Pudk type 2 and Griscelli syndrome

Rare Disorders HLH
Rare Disorders HLH

What is the most common trigger with inherited HLH?

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Epstein-Barr virus

Rare Disorders HLH
Rare Disorders HLH

What happens with elevated levels of interferon gamma?

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Macrophage activation

Rare Disorders HLH
Rare Disorders HLH

Which cytokine mediates the normal inflammatory response during infection?

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Interferon gamma

Rare Disorders HLH
Rare Disorders HLH

Which genes are involved with inherited HLH ?

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Those regulating natural killer and T-cell granule mediated cytotoxic release

Rare Disorders HLH
Rare Disorders HLH

When does primary HLH first manifest?

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During the first year of life

Rare Disorders HLH
Rare Disorders HLH

What are the 2 broad categories of HLH?

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Primary – familial and secondary -acquired

Rare Disorders HLH
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Rare Disorders HLH

What are some salvage regimens that have been reported in r/r HLH ?

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Alemtuzumab ATG infliximab daclizumab anakinra vincristine

Rare Disorders HLH
Rare Disorders HLH

Which severe CNS complication can occur in patients with HLH ?

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PRES

Rare Disorders HLH
Rare Disorders HLH

What are some triggers for PRES in HLH patients ?

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hypertension and cyclosporine

Rare Disorders HLH
Rare Disorders HLH

What should raise suspicion of refractory HLH?

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Worsening cytopenias as well as rising ferritin and sCD25 / sCD163 levels

Rare Disorders HLH
Rare Disorders HLH

Is infection or malignancy a more common driver of HLH ?

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Malignancy

Rare Disorders HLH
Rare Disorders HLH

Which malignancies commonly have HLH as a secondary feature ?

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NHL and acute leukemias

Rare Disorders HLH
Rare Disorders HLH

Which virus is the most common driver of HLH?

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EBV

Rare Disorders HLH
Rare Disorders HLH

Which cytokine drives macrophage hyperactivation in HLH ?

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Interferon – Gamma

Rare Disorders HLH
Rare Disorders HES

What acute therapies are available in steroid unresponsive patients with HES associated complications ?

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imatinib vincristine hydroxyurea and cyclophosphamide

Rare Disorders HES
Rare Disorders HES

What is the first-line treatment in an emergent complication in a patient with HES ?

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IV steroids

Rare Disorders HES
Rare Disorders HES

Which geographic region of the United States has the highest prevalence of strongyloides infection?

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Southeast

Rare Disorders HES
Rare Disorders HES

What are some urgent indications to treat patients with HES ?

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Cardiac complications such as CHF or MI CVA or other embolic phenomena or acute pulmonary complications

Rare Disorders HES
Rare Disorders HES

Which patients with HES can simply undergo observation ?

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Familial HES and HEus (hypereosinophilia of unknown significance)

Rare Disorders HES
Rare Disorders HES

What are the 3 stages of cardiac disease with HES ?

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necrosis thrombosis and fibrosis

Rare Disorders HES
Rare Disorders HES

Which variant of HES has the highest preponderance for cardiac complications?

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FIP1L1-PDGFRA HES

Rare Disorders HES
Rare Disorders HES

How common are cardiac complications in patients with HES ?

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5% but is the most lethal

Rare Disorders HES
Rare Disorders HES

What are some cardiac complications of FIP1L1-PDGFRA HES ?

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Arrhythmia chest pain fatigue EKG changes echocardiogram changes cardiomyopathy cardiogenic shock sudden cardiac death

Rare Disorders HES
Rare Disorders HES

What agents can be used in refractory non- FIP1L1-PDGFRA HES ?

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alemtuzumab JAK inhibitors methotrexate and CSA

Rare Disorders HES
Rare Disorders HES

How can patients with non- FIP1L1-PDGFRA HES be transitioned away from steroids?

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Utilize steroid sparing agents such as hydroxyurea or imatinib and possibly IFN if necessary

Rare Disorders HES
Rare Disorders HES

Which infectious organism should be treated prior to starting steroids in patients with non- FIP1L1-PDGFRA ?

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strongyloides should be trated with ivermectin

Rare Disorders HES
Rare Disorders HES

What is the primary treatment for non- FIP1L1-PDGFRA symptomatic HES ?

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steroids

Rare Disorders HES
Rare Disorders HES

Once patients are in a remission for HES should imatinib be continued?

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Yes it should be continued as maintenance

Rare Disorders HES
Rare Disorders HES

What is the difference between dosing of imatinib in HES versus CML ?

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in HES can be reduced to 100mg daily

Rare Disorders HES
Rare Disorders HES

When should imatinib be discontinued in patients with HES ?

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Unbearable symptoms even at lower doses or a lack of a response by 4 weeks

Rare Disorders HES
Rare Disorders HES

If urgent treatment is required but there is no definitive genetic evidence for HES which serum markers can serve as a surrogate?

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B12 and tryptase

Rare Disorders HES
Rare Disorders HES

Was the first-line therapy for FIP1L1-PDGFRA ?

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imatinib

Rare Disorders HES
Rare Disorders HES

What is the common fusion partner of PDGFRA HES ?

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FIP1L1

Rare Disorders HES
Rare Disorders HES

Do patients with PDGFRA mutated HES have an indolent or aggressive clinical course?

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Aggressive

Rare Disorders HES
Rare Disorders HES

How common is the FIP1L1-PDGFRA variant in myeloid HES ?

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10-15%

Rare Disorders HES
Rare Disorders HES

What are the myeloproliferative HES variants ?

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PDGFRA/B FGFR1 and PCM1-JAK2

Rare Disorders HES
Rare Disorders HES

What defines hypereosinophilic syndrome?

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Eosinophil mediated organ damage not attributable to other causes

Rare Disorders HES
Rare Disorders HES

What complete blood count cut-off defines eosinophilia?

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1500 billion/L

Rare Disorders HES
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Rare Disorders HES

What are the 3 common target organs of hypereosinophilic syndrome?

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Skin lung and GI tract

Rare Disorders HES
Rare Disorders HES

Is there phase 3 data supporting the use of benralizuam in PDGFRA negative HES ?

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No, only phase 2

Rare Disorders HES
Rare Disorders HES

What is the target of benralizumab used in HES ?

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IL-5R alpha

Rare Disorders HES
Rare Disorders HES

Which phase 3 trial determined the utility of imatinib in FLIPI-PDGFRA driven HES ?

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None, only phase 2 data

Rare Disorders HES
Rare Disorders HES

Which patients were included in the mepolizumab phase 3 study for HES ?

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Non-FLIPI-PDGFRA patients dependent on steroids

Rare Disorders HES
Rare Disorders HES

Is there phase 3 data to support the use of mepolizumab in HES ?

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Yes

Rare Disorders HES
Rare Disorders

What is the target of mepolizumab?

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IL-5

Rare Disorders
Rare Disorders

In which portion of the United States should you consider the addition of an anti-parasitic alongside systemic treatment for HES?

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Southeast USA

Rare Disorders
Rare Disorders

Which fusion protein can be a driver for HES and CEL?

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FIP1L1-PDGFRA

Rare Disorders
Rare Disorders

Which antibody can be used to target eosinophil levels in patients with HES?

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Mepolizumab

Rare Disorders
Rare Disorders HES

What type of lung disease can be seen in patients with HES?

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Restrictive

Rare Disorders HES
Rare Disorders Mastocytosis Part 1

What is the value of a serum tryptase level in a patient with SM and suspected anaphylaxis?

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To help determine retrospectively if this was a true anaphylactic reaction

Rare Disorders Mastocytosis Part 1
Rare Disorders Mastocytosis

Which laboratory studies should be tested if SM patients are suspected of having anaphylaxis ?

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Serum tryptase

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What therapy can be considered for patients with SM with hymenoptera venom-induced anaphylaxis?

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Venom immunotherapy

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some of the problems with higher dose steroids in patients with systemic mastocytosis?

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Tachycardia and flushing

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What therapy can be considered in patients who have developed episodes of anaphylaxis or episodes with hemodynamic instability?

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Corticosteroids

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Is there a role for anti-leukotriene agents in systemic mastocytosis?

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Yes

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which patients with systemic mastocytosis should be equipped with an EpiPen?

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All of them

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which subtype of systemic mastocytosis has the highest incidence of anaphylaxis?

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Indolent systemic mastocytosis

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some complications that can be caused by mast cells in the bones?

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Lytic lesions and pathologic fractures

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some complications of the liver that can be caused by mast cell invasion?

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Hepatomegaly ascites and elevated liver enzymes

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some of the available support of agents for mastocytosis ?

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Histamine receptor 1 and 2 antagonist proton pump inhibitors cromolyn steroids bisphosphonates allergen immunotherapy epinephrine injections

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which subtypes of systemic mastocytosis should only be treated with supportive medications?

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Smoldering and indolent

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the 2 patterns of hematologic manifestations of systemic mastocytosis?

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Cytopenias or leukocytosis/thrombocytosis if a SM-AHN subtype is suspected

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is an important connection between patients with systemic allergies and mastocytosis?

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They can have an exaggerated anaphylactic reaction

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What can account for the excessive bleeding associated with systemic mastocytosis?

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heparin release from granules

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

When would you ever see mast cells in circulation?

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Only with mast cell leukemia

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What can trigger an anaphylaxis reaction in patients with systemic mastocytosis?

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Hymenoptera stings

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some common triggers for mediator release?

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Medications including antibiotics and narcotics physical exertion temperature swings surgical intervention stress variety of infections alcohol

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Is a DEXA required in all patients diagnosed with systemic mastocytosis?

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Yes

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is the most common manifestation of systemic mastocytosis in adults?

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Urticaria pigmentosa AKA maculopapular cutaneous mastocytosis (MPCM)

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some effects on the bone marrow from mastocytosis?

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Myelosuppression

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some organ infiltration based side effects of mastocytosis in the lymphatic system and spleen?

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Lymphadenopathy and splenomegaly

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some organ infiltration based gastrointestinal side effects of mast cells?

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Ulcers and liver enzyme elevation

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some mastocytosis mediator release neurologic symptoms?

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Anxiety headache mood changes and somnolence

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some mastocytosis mediator release cardiovascular symptoms?

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Vasodilation tachycardia hypotension

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some mastocytosis mediator release musculoskeletal symptoms?

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Arthritic pain osteoporosis osteopenia

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some mastocytosis mediator released signs/symptoms of the gastrointestinal tract?

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Nausea bloating diarrhea

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are some mastocytosis mediator released signs/symptoms of the skin?

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Flushing and pruritus

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the 2 mastocytosis symptom categories?

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Mediator release or organ infiltration based

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the 2 rare mast cell tumors?

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Mast cell sarcoma and extracutaneous mastocytoma

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the 4 subtypes of systemic mastocytosis?

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Indolent (smoldering and isolated bone marrow) systemic mastocytosis with an associated hematologic neoplasm aggressive systemic mastocytosis and mast cell leukemia

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the different subtypes of cutaneous mastocytosis?

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Urticaria Pigmentosa (Monomorphic polymorphic plaque-form and and nodular-form) diffuse cutaneous mastocytosis mastocytoma and telangiectasia macularis eruptiva perstans

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which pathway is activated downstream of cKIT ?

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PI3K AKT

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which mutation is most common with systemic mastocytosis?

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D816V

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What percentage of adults with systemic mastocytosis harbor a KIT mutation ?

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95%

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is another name for cKIT ?

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CD117

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which ligand naturally binds cKIT ?

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Stem Cell Factor

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which natural anticoagulant is released from mast cells?

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Heparin

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the 2 general categories of mastocytosis?

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Cutaneous mastocytosis and systemic mastocytosis

Rare Disorders Mastocytosis
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Rare Disorders Mastocytosis Part 1

Which subtype of mastocytosis is most common in adults?

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Systemic is seen in more than 90% cases

Rare Disorders Mastocytosis Part 1
Rare Disorders Mastocytosis Part 1

Is there any phase 3 data to support the use of any particular TKI in systemic mastocytosis ?

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No

Rare Disorders Mastocytosis Part 1
Rare Disorders Mastocytosis Part 2

What is the role of brentuximab vedotin in CD30 expressing SM ?

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None as a single agent as no responses have been reported

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis

If patients with advanced SM qualify for transplant what bridge can be used?

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midostaurin or cladribine

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

If an urgent improvement of leukocytosis is required and advanced SM which readily available agent can be used?

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Hydroxyurea

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

If midostaurin and imatinib are not options for advanced SM which TKI can be used ?

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Nilotinib as dasatinib is even less efficacious

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What prophylaxis should be used in patients utilizing cladribine?

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Pneumocystis prophylaxis

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What have been reported objective response rates with midostaurin in patients with advanced SM ?

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60-70%

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What types of objective responses can be seen with midostaurin ?

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Improvement in liver function cytopenias bone marrow mast cell burden lower tryptase levels and decrease KIT allele burden

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which therapy is preferable in patients who need rapid debulking with aggressive SM ?

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cladribine

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which therapy is the preferable first-line agent for patients with aggressive SM ?

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midostaurin

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

When can imatinib be used in SM ?

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if there is no D816V mutation

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

In patients with SM-AHN which disease takes precedence?

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Both can take precedence depends on the clinical context

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Should patients with SM-AHN be referred to a transplant specialist early on?

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Yes

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

How can the B – findings and C- findings be used to distinguish indolent smoldering and aggressive SM ?

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Aggressive – at least 1 C Smoldering 2 or more B without C and Indolent 1 or fewer B and no C

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What defines mast cell leukemia?

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Bone marrow biopsy with diffuse infiltration and the aspirate with at least 20% mast cells

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the C- findings of systemic mastocytosis ?

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1- Cytopenias including absolute neutrophil count less than 1000 hemoglobin less than 10 g/dL platelets less than 100 billion / L 2-hepatomegaly with the liver dysfunction 3-skeletal involvement with lytic lesions or pathologic fractures 4-splenomegaly or hypersplenism 5-malabsorption with weight loss or gastrointestinal mast cell infiltrates

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the B- findings of systemic mastocytosis?

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1- Bone marrow biopsy with more than 30% filtration by mast cells and or serum tryptase level greater than 200 mg/mL 2-evidence of dysplasia or myeloproliferation without a definitive diagnosis of SM-AHN 3-hepatosplenomegaly without evidence of organization

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What are the four minor criteria for diagnosing systemic mastocytosis?

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1-At least 25% of the mast cells should be spindle-shaped immature or have atypical morphology 2- KIT mutation 3-CD25 expression on MC 4-serum tryptase exceeds 20 ng/mL persistently

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

How is systemic mastocytosis diagnosed?

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1 major and 1 minor criteria

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

How can patients with indolent systemic mastocytosis be monitored?

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Yearly complete blood count metabolic panel and serum tryptase follow-up and should patients with smoldering systemic mastocytosis be monitored?

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which agents can be used in systemic mastocytosis with gastrointestinal symptoms?

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H2 antihistamines proton pump inhibitors and cromolyn sodium

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which cytoreductive agents can be used in SM still have persistent anaphylaxis despite treatment with steroids antihistamine agents and omalizumab?

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Cytoreductive agents including midostaurin and cladribine

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is the mechanism of omalizumab?

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Blocks IgE binding to mast cells

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Which antibody therapy can be used in patients with SM?

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Omalizumab

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

If patients with SM are still having trigger attacks besides maximal doses of anti-HmR1/2 and antileukotriene therapy what other treatment can be started?

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Glucocorticoids

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is the main role of antihistamines for patients with SM ?

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Reduce flushing and itching

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

Is there reduced fertility with systemic mastocytosis?

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No

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What common over-the-counter medications can trigger mast cell release?

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ASA and NSAIDs

Rare Disorders Mastocytosis
Rare Disorders Mastocytosis

What is the best primary prevention for anaphylaxis?

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Avoid triggers

Rare Disorders Mastocytosis
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Rare Disorders Mastocytosis Part 2

What is a major criteria for systemic mastocytosis?

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Multifocal and dense infiltrates of mast cells in the bone marrow (more than 15 MC in aggregates)

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

Which FLT3 inhibitor has shown high ORR in systemic mastocytosis ?

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Midostaurin

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

Which mutation confers resistance to imatinib in patients with systemic mastocytosis?

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cKIT D816V

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

Which serum test can help corroborate a diagnosis of mastocytosis?

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Tryptase

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

Which cell surface markers are positive on mast cells?

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CD 2,25,117

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

What is another name for cKIT?

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CD117

Rare Disorders Mastocytosis Part 2
Rare Disorders Mastocytosis Part 2

Which TKI can be considered if a patient with SM has a cKIT D816V mutation ?

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Nilotinib

Rare Disorders Mastocytosis Part 2
Rare Disorders Porphyria Part 1

Which sex hormone is a common trigger for AIP?

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Progesterone

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

Does inherited AIP have high or low penetrance?

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low

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

What is the inheritance pattern of AIP ?

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Autosomal Dominant

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

What defines a protoporphyria?

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Immediate sensitivity to sunlight without blistering

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

Which enzyme is mutated in EPP ?

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Ferrochelatase

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

Which blistering cutaneous porphyria respond well to phlebotomy and hydroxychloroquine?

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None – only PCT

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria

What are 2 treatment options to treat PCT ?

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Phlebotomy and low-dose hydroxychloroquine

Rare Disorders Porphyria
Rare Disorders Porphyria

What is the best way to minimize cutaneous blistering in patients with underlying porphyria ?

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Minimize sunlight exposure

Rare Disorders Porphyria
Rare Disorders Porphyria

Do HCP and VP both cause neurovisceral and blistering cutaneous complications ?

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Yes but cutaneous more common

Rare Disorders Porphyria
Rare Disorders Porphyria

What is VP usually misdiagnosed as ?

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PCT

Rare Disorders Porphyria
Rare Disorders Porphyria

Are there neurovisceral complications in patients with PCT ?

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Very rare – essentially absent

Rare Disorders Porphyria
Rare Disorders Porphyria

What is an easy way to make a diagnosis of AHP in a patient without any symptoms?

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It is very challenging because a spot urine stool and serum testing is required during an acute attack

Rare Disorders Porphyria
Rare Disorders Porphyria Part 1

When should treatment for an acute porphyria attack be delayed until testing corroborates a diagnosis?

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never

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

Which AHP produces severe blistering cutaneous lesions?

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VP

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 1

Which of the acute hepatic porphyrias is the rarest ?

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ADP

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria

Which cutaneous complications can occur in AIP ?

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none

Rare Disorders Porphyria
Rare Disorders Porphyria

Is there any utility in stool porphyrin evaluation?

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Yes

Rare Disorders Porphyria
Rare Disorders Porphyria

Which is the most common type of AHP?

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AIP

Rare Disorders Porphyria
Rare Disorders Porphyria

How can you test for acute AHP in patients have underlying chronic kidney disease?

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Check serum PBG

Rare Disorders Porphyria
Rare Disorders Porphyria

What is the cutoff for urine PBG ?

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10mg / g of urine creatinine

Rare Disorders Porphyria
Rare Disorders Porphyria

What is the treatment for a true acute porphyria attack ?

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Hemin

Rare Disorders Porphyria
Rare Disorders Porphyria

During a true acute attack of acute hepatic porphyria what should the urine PBG level be ?

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Substantially elevated

Rare Disorders Porphyria
Rare Disorders Porphyria

What is the first laboratory test for suspicious acute porphyria ?

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urine PBG and total porphyrins

Rare Disorders Porphyria
Rare Disorders Porphyria

What is a common demographic for a AHP patient ?

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Young female

Rare Disorders Porphyria
Rare Disorders Porphyria

What are some common triggers for AHP?

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Stress testing medications hormonal changes

Rare Disorders Porphyria
Rare Disorders Porphyria

Which central nervous system manifestations can be seen on MRI in patients with AHP ?

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A pattern resembling PRES

Rare Disorders Porphyria
Rare Disorders Porphyria

Which central nervous system manifestations can also be seen in AHP ?

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Agitation hallucinations seizures and insomnia

Rare Disorders Porphyria
Rare Disorders Porphyria

What are the 2 types of non-blistering porphyria?

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CLPX protoporphyria and X-linked therapy protoporphyria (XLP)

Rare Disorders Porphyria
Rare Disorders Porphyria

What are the 2 types of chronic blistering cutaneous porphyria?

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Hepato-erythropoietic porphyria (HEP) and congenital erythropoietic mercury (CEP)

Rare Disorders Porphyria
Rare Disorders Porphyria

What are the subsets of AHP ?

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AIP Variegate Porphyria (VP) ALA dehydratase porphyria (ADP) and hereditary protoporphyria (HCP)

Rare Disorders Porphyria
Rare Disorders Porphyria

Which porphyria is the second most common in adults?

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AIP

Rare Disorders Porphyria
Rare Disorders Porphyria

Which porphyria is the most common in adults?

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PCT

Rare Disorders Porphyria
Rare Disorders Porphyria Part 1

What are the 3 main clinical categories of porphyria?

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Acute Hepatic Porphyria (AHP) chronic blistering cutaneous (CBC) and acute non-blistering cutaneous (ANC)

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria

What is the most common neurovisceral manifestation of acute hepatic porphyria ?

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Abdominal pain

Rare Disorders Porphyria
Rare Disorders Porphyria

What are the second and third most common porphyrias ?

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AIP and EPP

Rare Disorders Porphyria
Rare Disorders Porphyria

Which enzyme is mutated in PCT ?

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Uroporphyrinogen Decarboxylase (UROD)

Rare Disorders Porphyria
Rare Disorders Porphyria

Which porphyria is the most common ?

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Purphyria Cutanea Tarda (PCT)

Rare Disorders Porphyria
Column1

Column1

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Column2

Column1
Rare Disorders Porphyria Part 1

Where is heme synthesis most active ?

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bone marrow and liver

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 2

What is the only utility of carbohydrate loading during an acute attack of AHP ?

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Temporizing measure until hemin is administered

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Which electrolyte abnormality may result in seizures in patients with AHPs ?

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Hyponatremia from SIADH

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Is hemochromatosis or iron deficiency more common in AIP ?

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Iron deficiency

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Is prophylactic hemin encouraged in patients with porphyria ?

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It remains a contentious issue

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

What is the mechanism of givosiran ?

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degradation of ALAS1 mRNA

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

What is a last resort treatment for patients with AIP with recurrent attacks not showing any response to hemin and maintaining a very poor quality of life?

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liver transplant

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Is hemin safe during pregnancy ?

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Yes

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

What are some life-threatening complications of untreated AIP ?

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quadraparesis and respiratory paralysis

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

What is hemin reconstituted with prior to administration ?

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25% human albumin

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Which porphyria patients should undergo HCC screening ?

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AIP patients over age 50 and high ALA and PBG levels

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Is treatment with hemin or carbohydrate loading preferred during an acute AIP attack ?

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Hemin

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 1

Elevations in which metabolites are seen in ADA ?

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urinary ALA and coproporphyrin III

Rare Disorders Porphyria Part 1
Rare Disorders Porphyria Part 2

Which primary malignancy are patients with AIP at risk of developing?

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HCC

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria

Can most AIP at times be managed in the outpatient setting?

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No

Rare Disorders Porphyria
Rare Disorders Porphyria

What is the primary goal of therapy doing an acute AIP attack?

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mitigate symptoms ASAP

Rare Disorders Porphyria
Rare Disorders Porphyria

What are 2 ways to diagnose AIP ?

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Erythrocyte PBG deaminase and mutations in the HMBS gene encoding PBGD

Rare Disorders Porphyria
Rare Disorders Porphyria

During an acute attack of AHP which body fluids should be tested for porphyrins ?

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urine plasma and feces

Rare Disorders Porphyria
Rare Disorders Porphyria

Which AHP is the rarest ?

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ADP

Rare Disorders Porphyria
Rare Disorders Porphyria

Is a negative family history sensitive for ruling out AIP ?

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Not at all

Rare Disorders Porphyria
Rare Disorders Porphyria Part 2

Which antiepileptic agents can cause an AIP attack ?

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Barbiturates carbamazepine phenytoin

Rare Disorders Porphyria Part 2
Rare Disorders Porphyria Part 2

Which antihypertensive agent can cause an AIP attack ?

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Nifedipine

Rare Disorders Porphyria Part 2
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Column1

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Column2

Column1
Rare Disorders Porphyria Part 2

What have studies shown with givosiran in patients with AHP ?

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Reduction in the number of attacks per year and hemin infusions

Rare Disorders Porphyria Part 2
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