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Презентация на тему Familial Mediterranean fever (FMF)

IntroductionFamilial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent bouts of fever and serosal inflammationAutoinflammatory diseases:TNF-R-associated periodic syndrome (TRAPS) (55-kd TNFRSF1A gene mutation: C70R, P46L)Hyper IgD periodic fever syndrome (HIDS) (MVK gene mutation-->
FMFDr. Katya Dolnikovd_katya@rambam.health.gov.il IntroductionFamilial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent IntroductionAutosomal recessive inherited periodic diseaseSephardic, North African Jews, Armenians, Arabs, Druze and PathogenesisMutated MEFV geneThe MEFV gene encodes pyrin, a 781 amino acid protein that is Clinical presentationRecurrent episodes of fever and severe pain (due to serositis at Clinical presentaionJoint pain — 75 % suffer from sudden attacks of articular pain, which Clinical PresentationErysipelas-like skin lesion — The lesion is typically 10 to 35 cm2 in area, Clinical presentstionAcute pericarditis – small pericardial effusion detected incidentallyClinical features of pericarditis include Laboratory findingsAcute attacks are accompanied by elevation of serum markers of systemic Diagnosis≥1 major criteria≥2 minor criteria1 minor plus 5 supportive criteria1 minor criterion Genetic testingUsed to support, but not exclude, the diagnosis of FMFFMF is TreatmentThe goals of therapy for familial Mediterranean fever (FMF) are to prevent ComplicationsAmyloid deposition can occur in the kidneys, spleen, liver, gastrointestinal tract and ComplicationsSmall bowel obstruction — Recurrent attacks of peritonitis may lead to adhesions and small
Слайды презентации

Слайд 2 Introduction
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory

IntroductionFamilial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by

disorder characterized by recurrent bouts of fever and serosal

inflammation
Autoinflammatory diseases:
TNF-R-associated periodic syndrome (TRAPS) (55-kd TNFRSF1A gene mutation: C70R, P46L)
Hyper IgD periodic fever syndrome (HIDS) (MVK gene mutation--> mevalonate kinase deficiency)
Familial cold urticaria (FCU)


Слайд 3 Introduction
Autosomal recessive inherited periodic disease
Sephardic, North African Jews,

IntroductionAutosomal recessive inherited periodic diseaseSephardic, North African Jews, Armenians, Arabs, Druze

Armenians, Arabs, Druze and Turks are affected
Characterized by sporadic,

unpredictable attacks of fever and serosal inflammation
Most patients with FMF experience their first attack in early childhood.
The initial attack occurs before the ages of 10-20y

Слайд 4 Pathogenesis
Mutated MEFV gene
The MEFV gene encodes pyrin, a 781 amino

PathogenesisMutated MEFV geneThe MEFV gene encodes pyrin, a 781 amino acid protein that

acid protein that is expressed predominantly in the cytoplasm

in cells of myeloid lineage (among circulating cells), synovial fibroblasts
Pyrin acts as an intranuclear regulator of transcription of the peptides involved in inflammation

Слайд 5 Clinical presentation
Recurrent episodes of fever and severe pain

Clinical presentationRecurrent episodes of fever and severe pain (due to serositis

(due to serositis at one or more sites
The onset

of pain and fever is usually abrupt, peaking soon after onset.
Episodes last for one to three days and then resolve spontaneously.
The frequency of attacks is highly variable, even in a given patient, and it is unusual for a patient to describe a consistent triggering event.
Abdominal pain — 95% of patients have episodic abdominal pain
Abdominal pain and tenderness may initially be localized and then progress to become more generalized.
Guarding, rebound tenderness, rigidity, and an adynamic ileus are often present.
Chest pain — 45%.
Chest pain may be due to inflammation of the pleura or referred pain from subdiaphragmatic inflammation

Слайд 6 Clinical presentaion
Joint pain — 75 % suffer from sudden attacks

Clinical presentaionJoint pain — 75 % suffer from sudden attacks of articular pain,

of articular pain, which may be precipitated by minor

trauma or effort such as prolonged walking.
Monoarticular or oligoarticular and involve one of the large joints (knee, ankle, hip)
Gradual resolution of the signs and symptoms occur after peaking in 24 to 48 hours. The synovial fluid analysis is typically sterile, with a nucleated white cell count ranging from 200 to >100,000
The synovitis usually resolves completely without joint destruction.
However, severely protracted cases can result in permanent deformity, functional limitation, osteoporosis, and aseptic necrosis.



Слайд 7 Clinical Presentation
Erysipelas-like skin lesion — The lesion is typically 10

Clinical PresentationErysipelas-like skin lesion — The lesion is typically 10 to 35 cm2 in

to 35 cm2 in area, tender, raised, and erythematous
Occurs on

the lower leg, ankle, or foot
Erysipelas-like skin lesions may be the presenting feature of FMF in children and may be misdiagnosed as an infectious erysipelas or cellulitis
Children with myalgia and erysipelas-like skin lesions during attacks are at increased risk for subclinical inflammation during attack-free intervals, as evidenced by elevation of acute phase


Слайд 9 Clinical presentstion
Acute pericarditis – small pericardial effusion detected incidentally
Clinical

Clinical presentstionAcute pericarditis – small pericardial effusion detected incidentallyClinical features of pericarditis

features of pericarditis include chest pain (sharp and pleuritic,

improved by sitting up and leaning forward), pericardial friction rub, and widespread ST segment elevation on ECG
Acute orchitis – Acute scrotal swelling and tenderness due to orchitis is rare
Febrile myalgia – protracted bouts of febrile myalgia, up to six weeks. Usually involves the lower extremities but, in some cases, may be more . CPK is normal. Although the etiology is not clear, febrile myalgias may be due to an underlying vasculitis.
●Aseptic meningitis – rare

Слайд 10 Laboratory findings
Acute attacks are accompanied by elevation of

Laboratory findingsAcute attacks are accompanied by elevation of serum markers of

serum markers of systemic inflammation
Leukocytosis
Neutrophilia
ESR, CRP,
The presence of otherwise

unexplained proteinuria in between attacks is suggestive of renal amyloidosis

Слайд 11 Diagnosis
≥1 major criteria
≥2 minor criteria
1 minor plus 5

Diagnosis≥1 major criteria≥2 minor criteria1 minor plus 5 supportive criteria1 minor

supportive criteria
1 minor criterion plus ≥ 4 of the

first five supportive criteria
Typical attacks are defined as recurrent (≥3 of the same type), febrile (≥38°C) and short (lasting between 12 hours and 3 days)


Слайд 13 Genetic testing
Used to support, but not exclude, the

Genetic testingUsed to support, but not exclude, the diagnosis of FMFFMF

diagnosis of FMF
FMF is usually inherited as an autosomal

recessive trait
Individuals who have two pathogenic mutations in the MEFV gene confirm the diagnosis
25% of patients who meet clinical criteria for FMF have only one identifiable mutation

Слайд 14 Treatment
The goals of therapy for familial Mediterranean fever

TreatmentThe goals of therapy for familial Mediterranean fever (FMF) are to

(FMF) are to prevent acute attacks and minimize subclinical

inflammation in between attacks, and to prevent the development and progression of amyloidosis
Initial treatment with colchicine is indicated
At doses of 1 to 2 mg/day, colchicine is safe even when given continually over decades
Side effects, most commonly gastrointestinal (eg, diarrhea, nausea, vomiting), are uncommon at low doses (0.5 to 1.2 mg per day). Less common (<1 percent) side effects include bone marrow suppression, hepatotoxicity, and myotoxicity. Chronic renal insufficiency or liver cirrhosis leading to increased colchicine levels is a major risk factor for side effects.
Approximately 5 to 10 % of FMF patients are colchicine-resistant
Interleukin (IL)-1 inhibition is the preferred second-line therapy for these patients It is unknown whether IL-1 inhibitors have a beneficial effect on amyloidosis
Colchicine should be continued during pregnancy and breastfeeding

Слайд 15 Complications
Amyloid deposition can occur in the kidneys, spleen,

ComplicationsAmyloid deposition can occur in the kidneys, spleen, liver, gastrointestinal tract

liver, gastrointestinal tract and subsequently in the heart, thyroid,

and testes
Progressive secondary (AA) amyloidosis is a major cause of mortality
Patients can present with renal amyloidosis as the first and only manifestation
Patients with renal amyloidosis can present with asymptomatic proteinuria or clinically apparent nephrotic syndrome and gradually develop progressive nephropathy with end-stage renal disease
End-stage renal disease develops 2 to 13 years after the onset of proteinuria
There is poor correlation between the severity or frequency of attacks of FMF and the extent of amyloidosis in individual patients
The incidence of AA amyloidosis has markedly decreased with the use of colchicine


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