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1.
J Cyst Fibros ; 22(3): 505-514, 2023 May.
Article in English | MEDLINE | ID: mdl-36526553

ABSTRACT

BACKGROUND: A higher risk of human papillomavirus (HPV)-related cervical intra-epithelial neoplasia (CIN) is suspected among females with cystic fibrosis (CF). METHODS: We conducted a single center prospective cohort study among females attending the Lyon adult CF center. We performed a cervical cytology (Hologic Thinprep®) and HPV testing with genotyping (Clinical Arrays Papillomavirus; Genomica, enabling 35 genotype detection, 20 of which are high-risk (HR-HPV)) at inclusion. We followed all females with positive HPV tests at 6, 12 and 24 months to evaluate HPV persistence, and performed a colposcopy in cases of abnormal cytology. RESULTS: We included eighty-five participants, 18 (21%) of whom were lung-transplanted. The mean age at inclusion was 31.9 (range 18-59) years. The prevalence of HPV (all types) was 31.8%. HR-HPV was found in 25.9% of the whole cohort, 44.4% of transplanted patients, and 20.1% of nontransplanted patients. Genotype-specific HR-HPV persistence at 12 months was 43.5% among transplanted and 34.6% among nontransplanted patients. Overall, 17.6% (15/85) of females had an abnormal cytology: 44.4% (8/18) among transplanted and 10.4% (7/67) among nontransplanted patients. CIN was identified in 12 (14.1%) patients (6 low-grade, 6 high-grade). High-grade CIN developed in 4 nontransplanted patients. CONCLUSION: Transplanted females had high HR-HPV, abnormal cervical cytology and CIN prevalence rates compared to large published cohorts in the general non-CF population. Although HR-HPV prevalence and persistence were globally not significantly different in nontransplanted females compared to the general population, we reported high frequencies of abnormal cytology and CIN. Cervical cancer screening and prevention should be promoted among females with CF.


Subject(s)
Cystic Fibrosis , Papillomavirus Infections , Uterine Cervical Dysplasia , Uterine Cervical Neoplasms , Adult , Humans , Female , Adolescent , Young Adult , Middle Aged , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/prevention & control , Human Papillomavirus Viruses , Papillomavirus Infections/diagnosis , Papillomavirus Infections/epidemiology , Prospective Studies , Prevalence , Early Detection of Cancer , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/epidemiology , Uterine Cervical Dysplasia/diagnosis , Uterine Cervical Dysplasia/epidemiology
2.
Rev Med Interne ; 41(11): 748-755, 2020 Nov.
Article in French | MEDLINE | ID: mdl-32712042

ABSTRACT

Tryptase is the most abundant endopeptidase released by mast cells degranulation, involved in many pro and anti-inflammatory processes. Normal serum tryptase range is 0-11.4 µg/L. Tryptase is a useful diagnostic tool for anaphylaxis, systemic mastocytosis (SM) and mast cell activation syndrome (MCAS), where specific threshold values must be used. SM diagnosis criteria include evidence of dense mast cell infiltrate either in the bone marrow or the affected organ (such as skin), presence of KIT D816V mutation and elevated serum tryptase level (>20 µg/L). In SM, tryptase level is correlated with the burden of mast cells in bone marrow. MCAS should be considered in case of severe and recurrent typical clinical signs of systemic mast cell activation involving at least two organs, associated with an increase in serum tryptase level of 20% + 2 µg/L from the individual's baseline. Anaphylaxis is the most severe among hypersensitivity reactions. A clonal mast cell disorder is a central question in anaphylaxis and appropriate explorations should be conducted in these patients. Triggers for anaphylactic reactions vary significantly in the general population and in patients with MS or MCAS. Finally, physicians must be aware of the many pathological and physiological situations that affect tryptase levels.


Subject(s)
Blood Chemical Analysis/standards , Education, Medical, Continuing/standards , Practice Guidelines as Topic , Practice Patterns, Physicians'/standards , Tryptases/blood , Anaphylaxis/blood , Anaphylaxis/diagnosis , Blood Chemical Analysis/methods , Bone Marrow/pathology , Humans , Mast Cells/pathology , Mastocytosis/blood , Mastocytosis/diagnosis , Mastocytosis, Systemic/blood , Mastocytosis, Systemic/diagnosis , Physicians/standards , Reference Values , Tryptases/analysis
3.
Rev Med Interne ; 41(11): 769-775, 2020 Nov.
Article in French | MEDLINE | ID: mdl-32682623

ABSTRACT

Aceruloplasminemia is a rare iron-overload disease that should be better known by physicians. It is an autosomal recessive disorder due to mutations in ceruloplasmin gene causing systemic iron overload, including cerebral and liver parenchyma. The impairment of ferroxidase ceruloplasmin activity leads to intracellular iron retention leading aceruloplasminemia symptoms. Neurologic manifestations include cognitive impairment, ataxia, extrapyramidal syndrome, abnormal movements, and psychiatric-like syndromes. Physicians should search for aceruloplasminemia in several situations with high ferritin levels: microcytic anaemia, diabetes mellitus, neurological and psychiatric disorders. Diagnosis approach is based on the study of transferrin saturation and hepatic iron content evaluated by magnetic resonance imaging of the liver. Ceruloplasmin dosage is required in case of low transferrin saturation and high hepatic iron content and genetic testing is mandatory in case of serum ceruloplasmin defect. Neurological manifestations occur in the sixties decade and leads to disability. Iron chelators are widely used. Despite their efficacy on systemic and cerebral iron overload, iron chelators tolerance is poor. Early initiation of iron chelation therapy might prevent or slowdown neurodegeneration, highlighting the need for an early diagnosis but their clinical efficacy remains uncertain.


Subject(s)
Ceruloplasmin/deficiency , Iron Metabolism Disorders/diagnosis , Neurodegenerative Diseases/diagnosis , Ceruloplasmin/genetics , Ceruloplasmin/metabolism , Diagnosis, Differential , Humans , Iron/metabolism , Iron Metabolism Disorders/complications , Iron Metabolism Disorders/genetics , Iron Metabolism Disorders/therapy , Iron Overload/complications , Iron Overload/diagnosis , Iron Overload/pathology , Neurodegenerative Diseases/complications , Neurodegenerative Diseases/genetics , Neurodegenerative Diseases/therapy , Parkinsonian Disorders/diagnosis , Parkinsonian Disorders/etiology , Parkinsonian Disorders/metabolism , Rare Diseases
4.
Contraception ; 101(3): 183-188, 2020 03.
Article in English | MEDLINE | ID: mdl-31786201

ABSTRACT

OBJECTIVE: Our study aimed to evaluate the impact of the introduction of a new gynecologic referral service in our adult Cystic Fibrosis (CF) center on contraceptive coverage, gynecological follow-up regularity, and cervical cancer screening coverage. STUDY DESIGN: We implemented an on-site gynecological consultation in our adult CF center in 2015. We compared the results of two surveys conducted successively in 2014 and in 2017 in a cohort of women with CF attending the Lyon CF center. Women completed the same self-report written questionnaire as in 2014. Main outcome measures were the comparisons of contraceptive coverage, gynecological follow-up regularity, and cervical cancer screening coverage between 2014 and 2017. RESULTS: All the 136 women (100%) who attended the clinic in 2017 participated. Contraceptive prevalence rate increased from 69%(CI95%:60.3-78.1) to 86%(CI95%:79.6-92.9) between 2014 and 2017 (p = 0.005). Among transplanted patients, the contraceptive prevalence rate was 92.3%(CI95%:82.0-100) in 2017. Long acting reversible contraceptive use markedly increased from 10% to 21.6% (p = 0.005). The proportion of women that reported an access to gynecological care increased between 2014 and 2017 (74%(CI95%:66.3-82.0) vs 91%(CI95%:86.9-95.4), p < 0.005) and reached 100% among transplanted patients. Cervical cancer screening improved (55%(CI95%:51.2-68.8) vs 85%(CI95%:78.6-90.6) women ever screened) (p < 0.0005) and reached 100% among transplanted patients. CONCLUSIONS: We observed an improvement in contraceptive coverage and gynecological care of adult women with CF following the implementation of a dedicated gynecological consultation in the CF center. IMPLICATIONS: Service linkages and formal links between CF centers and gynecologists can facilitate access to disease-specific contraceptive counseling, adequate gynecological management and cervical cancer screening.


Subject(s)
Contraception/statistics & numerical data , Cystic Fibrosis , Papanicolaou Test/statistics & numerical data , Referral and Consultation/statistics & numerical data , Uterine Cervical Neoplasms/diagnosis , Adolescent , Adult , Cohort Studies , Early Detection of Cancer , Female , France , Gynecology , Humans , Long-Acting Reversible Contraception/statistics & numerical data , Middle Aged , Young Adult
5.
Rev Mal Respir ; 35(6): 592-603, 2018 Jun.
Article in French | MEDLINE | ID: mdl-29958717

ABSTRACT

INTRODUCTION: Most women with cystic fibrosis reach adulthood and should have appropriate gynecological follow-up and contraception. BACKGROUND: There is no specific contra-indication to any contraception due to cystic fibrosis itself. Combined estrogen-progesterone contraception can be used in most cases (including transplanted women). In case of transplantation, intra-uterine devices should be used carefully (risk of pelvic inflammatory disease, potential risk of contraceptive failure with copper intra-uterine devices). Hormonal contraceptives may not be effective in women taking corrective treatments aiming to correct the maturation defect of the chloride channel. Screening for cervical cancer is recommended with a pap smear every three years for women aged 25-65, but yearly and starting at a younger age among transplanted women who are at higher risk for cervical dysplasia. Human Papillomavirus vaccination should be offered to all young women. OUTLOOK: Women with cystic fibrosis and health care providers should be better informed on screening and on sexual and reproductive health to avoid unplanned pregnancies, to take into account drug interactions and to prevent cervical disease. CONCLUSION: Regular and specific gynecological management is mandatory in cases of cystic fibrosis.


Subject(s)
Continuity of Patient Care , Cystic Fibrosis/therapy , Gynecology/methods , Continuity of Patient Care/standards , Contraception/methods , Contraception/standards , Female , Follow-Up Studies , Genital Neoplasms, Female/diagnosis , Genital Neoplasms, Female/prevention & control , Genital Neoplasms, Female/therapy , Gynecology/standards , Humans , Monitoring, Physiologic/methods , Monitoring, Physiologic/standards , Papillomavirus Infections/complications , Papillomavirus Infections/diagnosis , Papillomavirus Infections/therapy , Papillomavirus Vaccines/therapeutic use
6.
Lupus ; : 961203317747721, 2017 Jan 01.
Article in English | MEDLINE | ID: mdl-29251170

ABSTRACT

Q fever has extremely polymorphic features, and has been reported to be associated with positivity of several autoimmune antibodies. We report two cases of atypical Q fever with a clinical presentation highly suggestive of an inflammatory systemic disease with positivity of autoimmune antibodies, mimicking systemic lupus erythematosus.

8.
QJM ; 110(11): 701-711, 2017 Nov 01.
Article in English | MEDLINE | ID: mdl-28525589

ABSTRACT

BACKGROUND: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a 25 target organ in SLE. AIM: Our objective was to describe this bone marrow involvement. METHODS: This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome. Bone marrow aspirations and/or biopsies were transferred for centralized review. RESULTS: Thirty patients from 19 centers were included. Central hematologic manifestations comprised bone marrow fibrosis (n = 17; 57%), pure red cell aplasia (n = 8; 27%), myelodysplastic syndrome (n = 3; 10%), aplastic anemia and agranulocytosis (n = 1; 3% each). Bone marrow involvement was diagnosed concomitantly with SLE in 12 patients. Bone marrow biopsies showed fibrosis in 19 cases, including one case of pure red cell aplasia and one case of agranulocytosis and variable global marrow cellularity. Treatments included corticosteroids (90%), hydroxychloroquine (87%), rituximab (33%), intravenous immunoglobulins (30%), mycophenolate mofetil (20%) and ciclosporine (20%). After a median follow-up of 27 months (range: 1-142), 24 patients manifested complete improvement. No patient died. CONCLUSIONS: This registry comprises the largest series of SLE patients with bone marrow involvement. It demonstrates the strong link between SLE and bone marrow fibrosis. Patients with atypical or refractory cytopenia associated with SLE should undergo bone marrow examination to enable appropriate, and often effective, treatment. Long-term prognosis is good.


Subject(s)
Bone Marrow/pathology , Lupus Erythematosus, Systemic/complications , Pancytopenia/complications , Adolescent , Adult , Aged , Child , Female , Fibrosis , France , Humans , Lupus Erythematosus, Systemic/drug therapy , Lupus Erythematosus, Systemic/pathology , Male , Middle Aged , Pancytopenia/pathology , Retrospective Studies , Treatment Outcome , Young Adult
10.
Rev Pneumol Clin ; 72(1): 77-86, 2016 Feb.
Article in French | MEDLINE | ID: mdl-25727661

ABSTRACT

Twenty-five years after the cystic fibrosis (CF) gene identification, this discovery actually begins to benefit to patients. Increasing our knowledge on CFTR biology, as well as technical progress made in order to screen for new drugs have made therapeutic strategies move an important step forward. It is likely that in the forthcoming years, the panel of molecules available for CF patients will be larger, with new activators and potentiators. The disease by itself may consequently change in its natural history. CF is an example of the so-called personalized medicine, aiming to fit treatment according to patient's genetic background. Ongoing clinical trials may enlarge the actually limited eligible number of CF patients for new drugs such as ivacaftor. Beyond this exciting and promising new therapeutic approach, one may not push symptomatic treatments on the side. Improvements have been made for inhaled antibiotics administration, aiming to simplify patient's life; clinical trials using new molecules able to liquefy mucus or with anti-inflammatory properties are actually underway. One important next step in the care for CF will be to design and conduct early intervention trials in CF infants. Newborn screening program have been widely implanted around the word, and cohorts studies have shown that both functional and structural abnormalities occurred very early, making the therapeutic window of opportunity tight.


Subject(s)
Cystic Fibrosis/therapy , Precision Medicine/trends , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Genetic Therapy/methods , Genetic Therapy/trends , Humans , Infant, Newborn , Mutation , Neonatal Screening/methods
11.
Hum Reprod ; 30(11): 2547-51, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26345688

ABSTRACT

STUDY QUESTION: Is gynaecological management of women with cystic fibrosis (CF) adequate? SUMMARY ANSWER: Gynaecological care (frequency of follow-up, cervical screening and contraceptive use among sexually active women) in women with CF fails to reach the recommended level. WHAT IS KNOWN ALREADY: Little is known about gynaecological follow-up and cervical screening in CF. Only few studies have described contraceptive practices in cohorts of CF women. STUDY DESIGN, SIZE, DURATION: We did a cross-sectional study in a cohort of 155 CF women attending the Lyon adult centre. Women attending the CF adult centre in 2014 completed a written questionnaire about their contraceptive choices, frequency of gynaecological follow-up and cervical screening. Other clinical data were collected from the CF adult centre registry. PARTICIPANTS/MATERIALS, SETTING, METHODS: One hundred and twenty women (100%) answered the questionnaire, among whom two were post-menopausal (46 and 59 years of age), and five were pregnant. MAIN RESULTS AND THE ROLE OF CHANCE: Seventy-four per cent of the women declared they had undergone gynaecological follow-up (89% of the women with transplantation), and only 55% reported having at least one previous Pap smear test. Among the transplanted patients, only 58% had had a Pap smear test, despite immunosuppressive treatment. The overall rate of contraception was only 64% and in diabetic women, it was 61%. Among contraception users; 65% used oral contraception, predominantly combined estrogen-progestagen (47%); among diabetic patients, 26% used progestin-only contraception. Intrauterine device accounted for 10% of patients using contraception, and tubal ligation only 4%. LIMITATIONS, REASONS FOR CAUTION: This study is limited by its cross-sectional design. Despite an internal validation of the questionnaire showing an almost perfect agreement, the risk of recall bias has to be taken into account. WIDER IMPLICATIONS OF THE FINDINGS: This study of practices highlights the importance of improved information regarding sexuality, fertility and reproductive health in young women with CF. A regular gynaecological follow-up and cervical screening is mandatory in this population. Better gynaecological care and contraceptive advice would help to avoid unplanned pregnancies, and optimize contraceptive selection in relationship to specific clinical conditions.


Subject(s)
Contraception/statistics & numerical data , Cystic Fibrosis , Papanicolaou Test/statistics & numerical data , Uterine Cervical Diseases/diagnosis , Adolescent , Adult , Cross-Sectional Studies , Female , Humans , Middle Aged , Young Adult
12.
Eur J Nucl Med Mol Imaging ; 42(13): 2013-20, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26140850

ABSTRACT

INTRODUCTION: Mastocytosis is a clonal haematological disease characterized by uncontrolled proliferation and the activation of mast cells. The value of FDG-PET/CT (FDG-PET) in mastocytosis has yet to be determined. METHODS: We retrospectively identified patients with an established diagnosis of systemic mastocytosis (SM), according to the WHO criteria, who underwent PET using the French Reference Centre for Mastocytosis database. Semi-quantitative and visual analysis of FDG-PET was performed and compared to the clinico-biological data. RESULTS: Our cohort included 19 adult patients, median age 65 years [range 58-74], including three with smouldering SM (SSM), three with aggressive SM (ASM), 10 with an associated clonal haematological non-mast-cell lineage disease (SM-AHNMD), and three with mast cell sarcoma (MCS). FDG-PET was performed at the time of the SM diagnosis (15/19), to evaluate lymph node (LN) activity (3/19) or the efficacy of therapy (1/19). FDG uptake was observed in the bone marrow (BM) (9/19, 47%), LN (6/19, 32%), spleen (12/19, 63%), or liver (1/19, 5%). No significant FDG uptake was observed in the SSM and ASM patients. A pathological FDG uptake was observed in the BM of 6/10 patients with SM-AHNMD, appearing as diffuse and homogeneous, and in the LN of 5/10 patients. All 3 MCS patients showed intense and multifocal BM pathological uptake, mimicking metastasis. No correlation was found between the FDG-PET findings and serum tryptase levels, BM mast cell infiltration percentage, and CD30 and CD2 expression by mast cells. CONCLUSIONS: FDG uptake does not appear to be a sensitive marker of mast cell activation or proliferation because no significant FDG uptake was observed in most common forms of mastocytosis (notably purely aggressive SM). However, pathological FDG uptake was observed in the SM-AHNMD and in MCS cases, suggesting a role of FDG-PET in their early identification and as a tool of therapeutic assessment in this subgroup of patients.


Subject(s)
Mastocytosis, Systemic/diagnostic imaging , Multimodal Imaging , Positron-Emission Tomography , Tomography, X-Ray Computed , Aged , Female , Fluorodeoxyglucose F18 , France , Humans , Male , Middle Aged , Radiopharmaceuticals
13.
Lupus ; 23(1): 81-3, 2014.
Article in English | MEDLINE | ID: mdl-24113196

ABSTRACT

Gonorrhea is a common sexually transmitted infection, which can present as the 'arthritis-dermatitis syndrome'. Patients with systemic lupus erythematosus often develop disseminated neisserial infections, because of inherited and acquired complement deficiencies. Neisserial infection, and particularly gonococcemia, can mimic a lupus flare. We report one case of gonococcemia presenting as acral papulo-vesiculous lesions of the digits in a young woman with lupus.


Subject(s)
Bacteremia/diagnosis , Gonorrhea/diagnosis , Lupus Erythematosus, Systemic/complications , Adult , Bacteremia/microbiology , Diagnosis, Differential , Female , Humans , Neisseria gonorrhoeae/isolation & purification
14.
Rev Med Interne ; 35(6): 388-92, 2014 Jun.
Article in French | MEDLINE | ID: mdl-24309546

ABSTRACT

We present the recent therapeutic advances in the cystic fibrosis care. It concerns improvements in symptomatic treatment with the development of dry powder inhaled antibiotics that improved quality of life, and innovative treatments namely the modulators of the cystic fibrosis transmembrane protein conductance regulator (CFTR), molecules which act specifically at the level of the defective mechanisms implied in the disease. The life expectancy of cystic fibrosis patients born after 2000, is estimated now to be about 50 years. This improvement of survival was obtained with the organization of the care within the specialized centers for cystic fibrosis (Centre de ressource et de compétences de la mucoviscidose) and remains still based on heavy symptomatic treatments. Dry powder inhaled antibiotics constitute a significant time saving for patients to whom all the care can achieve two hours daily. Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, allows a more specific approach of the disease. Ivacaftor (Kalydeco(®)) which potentialises the function of the CFTR protein expressed on the cellular surface is now available for patients with the G551D mutation. Lumacaftor is going to be tested in association with ivacaftor in patients with the F508del mutation, that is present in at least 75% of the patients. The ataluren which allows the production of a functional protein CFTR in patients with a no sense mutation is the third representing of this new therapeutic class. We presently have numerous symptomatic treatments for the cystic fibrosis care. The development of CFTR modulators, today available to a restricted number of patients treated with ivacaftor represents a very promising therapeutic avenue. It will represent probably the first step to a personalized treatment according to CFTR genotype.


Subject(s)
Cystic Fibrosis/drug therapy , Aminophenols/pharmacology , Aminophenols/therapeutic use , Aminopyridines/pharmacology , Aminopyridines/therapeutic use , Benzodioxoles/pharmacology , Benzodioxoles/therapeutic use , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Humans , Mutation , Oxadiazoles/pharmacology , Oxadiazoles/therapeutic use , Quinolones/pharmacology , Quinolones/therapeutic use
15.
Rev Med Interne ; 30(11): 985-7, 2009 Nov.
Article in French | MEDLINE | ID: mdl-19304358

ABSTRACT

Neurogenic arthropathy is a severe complication of chronic sensitive deficits that occurred commonly in diabetic neuropathies. It is a destructive and painless osteoarthritis associated with a loss of the deep sensitivity and a defect of protective reactions against chronic articular microtraumatisms. We report a 55-year-old woman with neuroarthropathy of the knee resulting from a spina bifida. Bisphosphonate use is an effective but non-consensual treatment.


Subject(s)
Arthropathy, Neurogenic/diagnosis , Arthropathy, Neurogenic/etiology , Spinal Dysraphism/complications , Female , Humans , Middle Aged
17.
Rev Med Interne ; 25(9): 623-8, 2004 Sep.
Article in French | MEDLINE | ID: mdl-15363617

ABSTRACT

AIM: Chronic fatigue is the more frequent symptom identified in the course of hereditary haemochromatosis. A screening for this disorder was carried out in 120 primary care patients consulting for unexplained chronic fatigue. SUBJECTS AND METHODS: Transferrin saturation and serum ferritin were determined in all patients. If transferrin saturation was >or= 45% and serum ferritin >or= 300 microg/l, HFE1 genotyping for mutations C282Y and H63D was completed. RESULTS: One hundred and twenty patients were recruited, 19-86 years old, including 62 males and 58 females. 45 patients (38%) presented with serum ferritin >or= 300 microg/l. Thirty two patients (27%) presented with transferrin saturation >or= 45%. Twenty two patients (18%) presented with these two pathological values. Four C282Y/H63D compound heterozygous, one H63D/H63D homozygous, and eight simplex heterozygous (6 H63D and 2 C282Y) genotypes were found. Patients with serum ferritin >or= 300 microg/l were predominantly male (89%), older (57 year) and plethoric (BMI: 26.4) corresponding mainly to dysmetabolic hyperferritinemia. CONCLUSION: None of these 120 patients consulting for unexplained chronic fatigue was found with hereditary haemochromatosis. Therefore observed prevalence is 0, with upper limit of 95% confidence interval at 2.5%. But the high prevalence (38%) of serum ferritin >or= 300 microg/l must be emphasized, corresponding usually to dysmetabolic hyperferritinemia.


Subject(s)
Fatigue/etiology , Hemochromatosis/diagnosis , Adult , Age Factors , Aged , Aged, 80 and over , Asthenia/etiology , Body Mass Index , Chi-Square Distribution , Chronic Disease , Confidence Intervals , Female , Ferritins/blood , Genotype , Hemochromatosis/blood , Hemochromatosis/complications , Hemochromatosis/genetics , Humans , Male , Middle Aged , Sex Factors , Transferrin/analysis
20.
Rev Med Interne ; 21(11): 961-71, 2000 Nov.
Article in French | MEDLINE | ID: mdl-11109593

ABSTRACT

INTRODUCTION: Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. CURRENT KNOWLEDGE AND KEY POINTS: In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. FUTURE PROSPECTS AND PROJECTS: The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmotabolic hepatosiderosis. Casos of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available.


Subject(s)
Hemochromatosis/physiopathology , Membrane Proteins , Amino Acid Substitution , HLA Antigens/genetics , Hemochromatosis/diagnosis , Hemochromatosis/genetics , Hemochromatosis Protein , Histocompatibility Antigens Class I/genetics , Humans , Prevalence , White People
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