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Gilles Grateau

Publications and source records attributed to Gilles Grateau.

At least 19 recordsLinked to original sources
PubMed2006

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks.

Algeria↗
PubMed2006

Lysozyme amyloidosis: report of 4 cases and a review of the literature.

Autosomal dominant hereditary amyloidosis represents not 1 disease but a group of diseases, each the result of mutations in a specific protein. The most common form is transthyretin amyloidosis, which has been recognized clinically for over 50 years as a familial polyneuropathy. Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II. The role of lysozyme in amyloid-related human disorders was first described in 1993; to date, there have been only 9 publications describing this disorder, which is a nonneuropathic form of hereditary amyloidosis. Reported cases have involved 7 unrelated families. We describe here our own experience with 4 families suffering from lysozyme amyloidosis: the first had prominent renal manifestations with sicca syndrome, the second and third had prominent gastrointestinal symptoms, and the fourth had a dramatic bleeding event due to rupture of abdominal lymph nodes. To our knowledge, this last symptom has not been reported previously, but is reminiscent of the hepatic hemorrhage seen in a previously reported case of a patient with lysozyme amyloidosis. To characterize the manifestations of this disorder, we performed an exhaustive literature review.Although hereditary amyloidosis is thought to be a rare disease, it is probably not as rare as we think and may well be underdiagnosed. Moreover, some cases of lysozyme amyloidosis are probably confused with acquired monoclonal immunoglobulin light-chain (AL) amyloidosis, formerly known as primary amyloidosis, which is the most frequent type of amyloidosis. Because treatment for each type of amyloidosis is different, and because therapy directed at 1 type may worsen symptoms of the other types, it is important to determine precisely the nature of the amyloid protein. Thus, hereditary lysozyme amyloidosis should be considered in all patients with systemic amyloidosis, particularly in patients who present with renal, gastrointestinal, or bleeding complications without evidence of AL or AA (secondary) amyloidoses.

Adult↗
PubMed2006

Diffuse large and small bowel necrosis in catastrophic antiphospholipid syndrome.

The catastrophic variant is an accelerated form of the antiphospholipid syndrome resulting in multiorgan failure because of multiple small vessel occlusions. We report a case of catastrophic antiphospholipid syndrome in a patient with subacute cutaneous lupus erythematosus and ischemic bowel, who presented with acute abdominal pain due to diffuse right colon and small bowel necrosis requiring large resection, associated with acute respiratory distress syndrome, thrombocytopenia and disseminated intravascular coagulation. Histopathological examination of resected tissues showed diffuse arteriolar and venous thrombosis but no vasculitis, and mesenteric artery lumen severely narrowed by intimal fibrosis. The patient died 15 days after admission despite treatment with anticoagulation, steroids, continuous hemofiltration and plasma exchange. Ischemic bowel and diffuse intestinal necrosis may be secondary to the antiphospholipid syndrome, and a high level of suspicion and an early diagnosis are required.

Aged↗
PubMed2005

[Auto-inflammatory syndromes].

Auto-inflammatory syndromes are a group of hereditary diseases characterised by intermittent bouts of clinical inflammation with focal organ involvement mainly: abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever, which affects patients of Mediterranean descent all over the world. Three other types have been recently clinically as well as genetically characterised. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases, as underlied by a specific inflammatory pathway. This new group of diseases has already opened new avenues in our understanding of the inflammatory response.

Autoimmune Diseases↗
PubMed2005

Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease.

OBJECTIVE: Behçet's disease is a chronic, relapsing, multisystemic inflammatory disorder characterized by recurrent oral and genital ulcers and by ocular, articular, vascular, and central nervous system involvement. The tumor necrosis factor alpha (TNFalpha) pathway is likely involved in the pathophysiology of Behçet's disease. One of the 2 TNFalpha receptors is TNF receptor superfamily 1A (TNFRSF1A). We searched for R92Q TNFRSF1A mutations in patients with Behçet's disease. METHODS: A search for TNFRSF1A mutations was performed by polymerase chain reaction amplification of the TNFRSF1A gene, followed by denaturing high-performance liquid chromatography scanning. RESULTS: Among the 74 unrelated European patients with Behçet's disease, 5 (6.8%) carried the R92Q TNFRSF1A mutation. The frequency of the R92Q mutation in patients with Behçet's disease was significantly higher than that in controls (P = 0.006 by Fisher's exact test). Deep vein thrombosis was significantly associated with the R92Q mutation (P = 0.001 [with Bonferroni adjustment for multiple comparisons]). Among the 30 patients with thrombosis, 10 had cerebral thrombophlebitis. None of these patients had the R92Q mutation. Among the 20 patients with Behçet's disease who had extracranial deep vein thrombosis, 6 had the R92Q mutation, whereas 14 did not (P < 0.0001) CONCLUSION: The R92Q mutation in patients with Behçet's disease is associated with an increased risk of extracranial venous thrombosis. This new finding may help in understanding the complex prothrombotic state in patients with Behçet's disease.

Behcet Syndrome↗
PubMed2005

Localized amyloidosis: a survey of 35 French cases.

Since the prognosis of localized amyloidosis remains unclear, we conducted a survey to define the characteristics and the course of this disease. The charts of 35 patients with either laryngeal (14 patients), tracheobronchial (10 patients), colonic (1 patient), or lower urinary tract amyloidosis (10 patients) were analyzed. The average age at diagnosis was 52.7+/-12 years (range 33-73 years). The amyloid protein type was specified to be amyloid light chain (AL) in 15 cases. All patients had undergone additional biopsies (accessory salivary glands, rectal, fat pad and bone marrow aspirates) to rule out a systemic disease. Symptomatic treatments included endoscopic excision and laser therapy. Colchicine and chemotherapy with prednisone and melphalan were prescribed with limited success. During a mean follow-up period of 6.1+/-5.3 years no patient developed a systemic form of amyloidosis. Six deaths were reported, one related to the disease because of a fatal airway hemorrhage. We suggest that immunolabeling studies should be more routinely performed. There was no risk of developing a systemic disease from local amyloid deposits in our survey. However, local evolution can be life-threatening. Such patients should be referred to specialist centers for further evaluation. Management requires close follow-up to exclude recurrence and to determine the appropriate symptomatic treatment.

Adult↗
PubMed2005

Amyloidosis and auto-inflammatory syndromes.

Amyloidosis remains currently a severe potential complication of many chronic inflammatory disorders. It is not exactly know why some patients develop a progressive amyloidosis, whereas others do not although latent deposits may be present. A permanent acute phase response, ideally evaluated with serial measurement of serum protein SAA, the precursor of the AA protein deposited in tissues, seems to be a prerequisite to the development of inflammatory (AA) amyloidosis. Genetic factors have however been recently emphasized. Among persistent or emerging causes of AA amyloidosis, hereditary periodic fever syndromes also known as auto-inflammatory syndromes are a group of diseases characterised by intermittent bouts of clinical inflammation with focal organ involvement mainly: abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever which affects patients of Mediterranean descent all over the world. Three other types have been recently clinically as well as genetically characterised. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases.

Amyloidosis↗
PubMed2005

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.

Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few overlapping symptoms. We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene. Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease.

Adolescent↗
PubMed2005

[Hereditary recurrent fever syndromes].

Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis factor receptor superfamily 1A-associated periodic fever syndrome (TRAPS) with a dominant mode of inheritance; hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); and the most recently recognized entity, which includes Muckle Wells syndrome, familial cold urticaria, and the chronic infantile neurological cutaneous and articular (CINCA) syndrome. Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management.

Arthritis↗
PubMed2004

[Hereditary intermittant fever].

UNLABELLED: Other than familial mediterranean fever: Four hereditary diseases presenting in the form of intermittent inflammatory flares are now recognized and have been characterised clinically and genetically. At the head of this group is Familial Mediterranean Fever (FMF), which affects thousands of patients originating from the Mediterranean area. However the familial Mediterranean Fever is no longer the only recurrent hereditary inflammatory disease. Three other entities have now been clearly defined: intermittent fever secondary to mutations in the type 1A Tumour Necrosis Factor receptor (TNF), of dominant autosomic genetic transmission, the hyperimmunoglobulinemia D syndrome and an entity regrouping the Muckle Wells syndrome, familial cold-induced urticaria, and the Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome. IN PRACTICE: Because they require specific management and treatment, precise diagnosis of these entities is crucial.

Adult↗
PubMed2003

[What has become of inflammatory amyloidosis?].

Inflammation associated amyloidosis (AA amyloid) remains a severe complication of chronic inflammatory diseases, namely of rheumatoid arthritis and of juvenile arthritis. Infectious causes of AA amyloid have become uncommon. In the course of chronic inflammatory diseases, amyloid should be regularly screened by proteinuria. The proof of amyloidosis requires tissue analysis examplifying specific apple-green birefringence after staining with Congo red. When amyloidosis is progressive in the course of one chronic disease, powerful anti-inflammatory and immunosuppressive drugs can be used.

Amyloidosis↗
PubMed2003

Musculoskeletal disorders in secondary amyloidosis and hereditary fevers.

Amyloidosis remains a severe potential complication of many chronic inflammatory disorders, foremost of rheumatoid arthritis. It is not exactly known why some patients develop a progressive amyloidosis while others do not, although latent deposits may be present. It is likely that more potent anti-inflammatory drugs recently used in rheumatoid arthritis have led to a decrease of amyloid-associated (AA) amyloidosis. However, overt amyloidosis remains a severe complication of some chronic inflammatory disorders and it has a poor prognosis. Hereditary fevers are a group of diseases characterized by intermittent bouts of clinical inflammation with focal organ involvement, mainly abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever which affects patients of Mediterranean descent all over the world. Three other types have been recently characterized clinically as well as genetically. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases.

Amyloidosis↗
PubMed2002

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS. Amyloidosis of the amyloidosis-associated type is the main complication of MWS and is sometimes associated with FCU. In FCU, cold exposure is the triggering factor of the inflammatory crisis. We identified CIAS1 mutations, all located in exon 3, in nine unrelated families with MWS and in three unrelated families with FCU, originating from France, England, and Algeria. Five mutations--namely, R260W, D303N, T348M, A439T, and G569R--were novel. The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. This result indicates that modifier genes are involved in determining either a MWS or a FCU phenotype. The finding of the G569R mutation in an asymptomatic individual further emphasizes the importance of such modifier a gene (or genes) in determining the disease phenotype. Identification of this gene (or these genes) is likely to have significant therapeutic implications for these severe diseases.

Adolescent↗
PubMed2002

[Hereditary intermittent fevers, other than familial Mediterranean fevers].

Familial Mediterranean fever is no more the sole hereditary disease characterized by recurrent inflammatory attacks. Three other main entities have now been defined, both at clinical and genetic levels: a dominant disease due to mutations of one of the tumour necrosis factor receptor, called TRAPS for tumour necrosis factor receptor associated periodic syndrome, the hyper-immuno-globulinaemia D and periodic fever syndrome (HIDS), which is a metabolic disorder and the Muckle-Wells syndrome. A thorough diagnosis of these diseases is crucial for appropriate management and treatment.

Diagnosis, Differential↗