scholarly journals Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever

Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1049
Author(s):  
Rossella Siligato ◽  
Guido Gembillo ◽  
Vincenzo Calabrese ◽  
Giovanni Conti ◽  
Domenico Santoro
Keyword(s):  
Nephrotic Syndrome ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Rapid Progression ◽  
Secondary Amyloidosis ◽  
Aa Amyloidosis ◽  
Glomerular Diseases ◽  
Amyloid A ◽  
Serum Amyloid A Protein ◽  
Mediterranean Fever

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease with autosomal recessive transmission, characterized by periodic fever attacks with self-limited serositis. Secondary amyloidosis due to amyloid A renal deposition represents the most fearsome complication in up to 8.6% of patients. Amyloidosis A typically reveals a nephrotic syndrome with a rapid progression to end-stage kidney disease still. It may also involve the cardiovascular system, the gastrointestinal tract and the central nervous system. Other glomerulonephritis may equally affect FMF patients, including vasculitis such as IgA vasculitis and polyarteritis nodosa. A differential diagnosis among different primary and secondary causes of nephrotic syndrome is mandatory to determine the right therapeutic choice for the patients. Early detection of microalbuminuria is the first signal of kidney impairment in FMF, but new markers such as Neutrophil Gelatinase-Associated Lipocalin (NGAL) may radically change renal outcomes. Serum amyloid A protein (SAA) is currently considered a reliable indicator of subclinical inflammation and compliance to therapy. According to new evidence, SAA may also have an active pathogenic role in the regulation of NALP3 inflammasome activity as well as being a predictor of the clinical course of AA amyloidosis. Beyond colchicine, new monoclonal antibodies such as IL-1 inhibitors anakinra and canakinumab, and anti-IL-6 tocilizumab may represent a key in optimizing FMF treatment and prevention or control of AA amyloidosis.

scholarly journals Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
J. Coutinho ◽  
R. S. Chorão ◽  
M. Oliveira ◽  
C. R. Santos
Keyword(s):  
Renal Failure ◽  
Periodic Fever ◽  
Tumor Necrosis Factor Receptor ◽  
Secondary Amyloidosis ◽  
End Stage Renal Failure ◽  
Amyloid A ◽  
Serum Amyloid A Protein ◽  
Mediterranean Fever ◽  
Patient Prognosis ◽  
End Stage

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a rare monogenic autoinflammatory disease. Its most severe manifestation is secondary amyloidosis. A 44-year-old male presented with nephrotic syndrome. Kidney biopsy was conclusive for secondary amyloidosis. The patient and his children had a history of recurrent febrile periods since infancy. All subjects were positive for a heterozygous variant of the TNFRSF1A gene, confirming TRAPS diagnosis. The patient progressed to end-stage renal failure and developed recurrent pericarditis episodes. He was started on anakinra while on hemodialysis with marked reduction of his serum amyloid A protein (SAA) levels. Meanwhile he received a cadaveric renal transplant and maintains anakinra treatment. Despite renal failure being the most feared complication of AA amyloidosis caused by TRAPS, little data is available about safety of anti-IL-1 treatment in patients with severe kidney failure. The authors report this case of a patient on dialysis treated with anakinra in which no complications were registered. Though amyloidosis is established, the authors believe containing its progression and reducing inflammatory activity can improve patient prognosis and reduce recurrence of amyloidosis in kidney transplant, as has been demonstrated in transplanted patients due to familial Mediterranean fever amyloidosis.

scholarly journals Familial Mediterranean fever in the pediatric population

2022 ◽  
Vol 50 (1) ◽  
pp. 25-30
Author(s):  
Pilar LLobet Agulló ◽  
Laura Sanromà-Nogués ◽  
Isabel Maria Salguero-Pérez ◽  
Juan I Aróstegui ◽  
Sonia Corral-Arboledas ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Secondary Amyloidosis ◽  
Amyloid A ◽  
Heterozygous Variant ◽  
Mediterranean Origin ◽  
Caucasian Origin ◽  
Mediterranean Fever ◽  
Disorder Treatment

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disorder characterized by short, repeated, and self-limiting crises of fever and serositis. The disease was described as autosomal recessive hereditary transmission secondary to variants of the MEFV (MEditerranean FeVer) gene, even though a variable proportion of patients only present a heterozygous variant. FMF is very common in certain ethnic groups (Turkish, Armenian, Arab, and Jewish), even though it has been described throughout the Mediterranean and elsewhere in the world. The clinical manifestations are variable, with secondary amyloidosis being the most serious complication of the disorder. Treatment and prophylaxis are mainly based on the administration of colchicine, which prevents the crises and avoids complications in most cases. This study reviews the course of seven pediatric patients diagnosed with FMF during the period 2010–2018 at a district hospital. Most of the patients were of Caucasian origin, with onset at an early age in the form of fever as the main symptom, and some patients moreover presented less frequent manifestations (pericardial effusion, sensorineural hearing loss). Two cases presented plasmatic amyloid A protein elevation that subsided with the treatment. All the patients initially received colchicine, and one of them required prescription of anakinra, which was replaced by canakinumab due to a serious adverse reaction. There were no cases of consanguinity, and all the patients were of Mediterranean origin. The subjects showed a favorable course over the years, which was attributed to the early diagnosis and treatment provided.

scholarly journals A CASE OF LATE DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER COMPLICATED BY AA-AMYLOIDOSIS

The Clinician ◽  
2018 ◽  
Vol 12 (2) ◽  
pp. 37-42
Author(s):  
S. I. Shchadneva ◽  
E. E. Ustinova ◽  
L. V. Belozertseva ◽  
V. V. Gorbunov ◽  
N. S. Kurbatova
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Nephrotic Syndrome ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Morphological Changes ◽  
Clinical Manifestations ◽  
Aa Amyloidosis ◽  
Systemic Lupus ◽  
Periodic Disease ◽  
Mediterranean Fever

The aimof study was to describe a clinical case of a hereditary disease with autosomal recessive type of inheritance – familial Mediterranean fever (FMF).Materials and methods.Patient A., 19 years old, Armenian, was hospitalized in the Department of rheumatology of the clinical hospital with complaints of periodic temperature rises to 39 °C, paroxysmal pain in the abdomen, ankle and hip joints, legs edema. In anamnesis from 8 months of age there were attacks of 1–2 day abdominal pain in combination with febrile fever; from 2 years there were arthralgia of the ankle joints, followed by knee and hip. Attacks of fever and joint syndrome recurred 3–4 times a year, lasted for 2–3 days, and disappeared spontaneously. Treatment with nonsteroidal anti-inflammatory drugs and small doses of prednisone was carried out. The examination in the hospital revealed nephrotic syndrome without impaired renal function, increasing of erythrocyte sedimentation rate (up to 62 mm/h), C-reactive protein (up to 60 mg/dl), leukocytosis (up to 16.7 × 109/L). The immunological examination revealed no abnormalities. Bacteriological and serological studies have ruled out the possibility of infectious diseases. Electrocardiography, echocardiography, ultrasound of abdomen and kidneys, multispiral computed tomography of kidneys and retroperitoneum, magnetic resonance imaging of the sacroiliac joints, nephrobiopsy were performed.Results.During the examination, a wide differential diagnosis with infectious and rheumatic diseases was carried out. Taking into account the polysyndromicity of clinical manifestations, systemic lupus erythematosus was suggested. An induction course of immunosuppressive therapy was conducted, that was ineffective. The diagnosis of systemic lupus erythematosus was doubtful and to clarify the nature of kidney morphological changes nephrobiopsy was performed that revealed the presence of kidneys AA-amyloidosis. Given these data in conjunction with clinical manifestations, the patient»s nationality, FMF was diagnosed and colchicine 2 mg/day was appointed. It was possible to stop the clinical symptoms of inflammation in FMF, but the nephrotic syndrome due to amyloidosis persists.Conclusion.The presented observation demonstrates the complexity of FMF diagnosis that verified 18 years after the appearance of the first disease symptoms. The diagnosis was helped by the presence of disease clinical manifestations and kidneys morphological study that revealed the development of a serious complication of periodic disease – AA-amyloidosis. Treatment with colchicine allowed to stop the symptoms of periodic disease.

scholarly journals In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis

2019 ◽  
Vol 25 (8) ◽  
pp. 487-490 ◽  
Author(s):  
Clémence Gorlier ◽  
Jérémie Sellam ◽  
Ludivine Laurans ◽  
Tabassome Simon ◽  
Irina Giurgea ◽  
...  
Keyword(s):  
Serum Level ◽  
Familial Mediterranean Fever ◽  
Protein Level ◽  
Demographic Data ◽  
Normal Serum ◽  
Soluble Form ◽  
Blood Levels ◽  
Aa Amyloidosis ◽  
Amyloid A ◽  
Mediterranean Fever

We aimed to explore triggering receptor expressed on myeloid cells-1 (TREM-1) activation in familial Mediterranean fever (FMF), the most frequent monogenic auto-inflammatory disease, through the measurement of its serum soluble form, named sTREM-1. Blood samples from patients with FMF according to Livneh criteria followed in the French FMF national center and carrying two pathogenic MEFV mutations were collected. Serum level of sTREM-1 was assessed using ELISA. Demographic data, presence of FMF attack, association with histologically proven AA amyloidosis, and blood levels of C-reactive protein (CRP), serum amyloid A (SAA) protein, and creatinine were collected. TREM-1 was available in 56 patients (33.9% male, mean age 43 yr); AA amyloidosis was associated in six patients (19.6% in FMF). Mean sTREM-1 level did not differ significantly between patients having an attack or not and there was also no significant correlation between the level of sTREM-1 and CRP and SAA protein. However, the mean rate of sTREM-1 was significantly higher among FMF patients with AA amyloidosis versus without, though the concomitant SAA protein level was normal. Serum level of sTREM-1 was higher in patients with amyloidosis even though the concomitant SAA protein level was normal. sTREM-1 plasma levels could be an accurate tool to specifically identify FMF patients with amyloidosis.

Shear wave elastography evaluation of liver, pancreas, spleen and kidneys in patients with familial mediterranean fever and amyloidosis

2021 ◽  
pp. 20210237
Author(s):  
Zuhal Bayramoglu ◽  
Zeynep Nur Akyol Sari ◽  
Oya Koker ◽  
Ibrahim Adaletli ◽  
Rukiye Eker Omeroglu
Keyword(s):  
Familial Mediterranean Fever ◽  
Shear Wave ◽  
Left Kidney ◽  
Liver Stiffness ◽  
Shear Wave Elastography ◽  
Laboratory Parameters ◽  
Amyloid A ◽  
Control Subjects ◽  
Serum Amyloid A Protein ◽  
Mediterranean Fever

Objectives: Amyloid deposits in a visceral organ can contribute to tissue stiffness that could be measured with shear wave elastography (SWE). We aimed to investigate changes in organ stiffness in conjunction with laboratory parameters in patients with Familial Mediterranean Fever (FMF) and amyloidosis. Methods: This prospective study included 27 FMF patients, 11 patients with amyloidosis, and 38 healthy controls. Median shear wave elasticity values of the liver, spleen, both kidneys, and pancreas on SWE were compared among study and control groups. The mean values of CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) were compared by the t–test and the median of SAA (serum amyloid A protein) was compared with the Mann–Whitney U test between FMF groups with and without amyloidosis. Spearman’s correlation analysis was performed to reveal the association between stiffness values and laboratory parameters. Results: The median liver, spleen, kidney, and pancreas elasticity values were significantly higher in the FMF group with amyloidosis compared to control subjects. The median kidney stiffness values in the FMF group with or without amyloidosis were significantly higher compared to control subjects. Median liver stiffness values in FMF patients with amyloidosis were significantly higher than FMF patients without amyloidosis. There were statistically significant positive correlations between the CRP (p = 0.001, r = 0.56), ESR (p = 0.001, r = 0.61), and SAA (p = 0.002, r = 0.53) levels with spleen stiffness, and CRP (p = 0.006, r = 0.48) and ESR (p = 0.001,r = 0.61) levels with pancreas stiffness, and ESR (p = 0.004, r = 0.51) levels with the left kidney stiffness. Conclusion: SWE could be a potential tool for noninvasive follow-up of FMF patients and also amyloid deposition. Advances in knowledge: Both acute inflammation and amyloidosis in the FMF patients could increase organ stiffness.

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