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Complement Deficiency Syndrome

Complement Deficiency Diseases


Presentation

  • Individuals with genetically determined complement deficiencies have a variety of clinical presentations.[sinobiological.com]
  • A previously healthy 19–year–old female, presented with 1 day of fever, severe occipital headaches, nausea, vomiting, diarrhea, severe myalgias and polyarthralgias. She is attending her spring semester in college while living in a dormitory.[shmabstracts.com]
  • This highly esteemed, bestselling medical reference book presents comprehensive detail on each topic, while maintaining a succinct, accessible style so this information can be seamlessly incorporated into your daily practice.[books.google.com]
  • Corvini M, Randolph C and Aronin SI (2004) Complement C7 deficiency presenting as recurrent aseptic meningitis. Annals of Allergy, Asthma, and Immunology 93: 200–205.[els.net]
  • Associated with frequent, recurrent disseminated infections Streptococcus pneumoniae Neisseria meningitidis Neisseria gonorrhea May present as autoimmune disease (eg, systemic lupus erythematosus [SLE] , nephritis) Presentation is similar among various[arupconsult.com]
Multiple Congenital Anomalies
  • congenital anomalies-hypotonia-seizures syndrome XL 24 27 PTX3 Complement system AD/AR 1 RSPH1 Ciliary dyskinesia AR 14 10 RSPH4A Ciliary dyskinesia AR 18 24 RSPH9 Ciliary dyskinesia AR 8 12 SERPING1 Angioedema, Complement component 4, partial deficiency[blueprintgenetics.com]
Hypothermia
  • Initially, patient was tachycardic, afebrile and normotensive, but in a matter of hours she became hemodynamically unstable with profound hypotension, hypoxia, hypothermia and obtundation. Skin had a macular and petechial rash.[shmabstracts.com]
Nausea
  • A previously healthy 19–year–old female, presented with 1 day of fever, severe occipital headaches, nausea, vomiting, diarrhea, severe myalgias and polyarthralgias. She is attending her spring semester in college while living in a dormitory.[shmabstracts.com]
  • We will also consider whether you have chronic side effects from these or other medications, including severe fatigue, fever, headaches, high blood pressure, joint swelling, muscle aches, nausea, shortness of breath, or limitations in mental function[ssa.gov]
  • Headache, fever, myalgia, chills, rigors, nausea and vomiting are common adverse reactions of IVIG infusion; however, aseptic meningitis has been reported. 3.[hawaii.edu]
Heart Failure
  • Such disorders include circulatory abnormalities leading to stasis or cellular ischemia, as can occur in sickle cell disease, diabetes or heart failure; obstructive lung conditions such as chronic obstructive pulmonary disease, ciliary dyskinesia, and[worldallergy.org]
Petechiae
  • The initial manifestations often present at birth and consist of petechiae, bruises, bleeding from circumcision or bloody stools.[hawaii.edu]

Workup

  • Workup often shows hypocomplementemia ( C3/C4), renal failure, eosinophilia and eosinophiluria.[medicalmediareview.com]
  • Resources on Primary Immunodeficiency Diseases for Physicians and Patients Resource Website Comments European Society for Immunodeficiencies Includes diagnostic workup and criteria for 19 primary immunodeficiency diseases; registry Immune Deficiency Foundation[aafp.org]
  • The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol 2001;87(5):362-370. 4. Paul ME, Shearer WT. Chapter 33- Approach to the Evaluation of the Immunodeficient Patient. In: Rich RR, Fleisher TA (eds).[hawaii.edu]

Treatment

  • Take advantage of expert advice on practical issues that will be encountered on a day-to-day basis in the ICU, as well as common pitfalls in treatment and management emphasized in each chapter.[books.google.com]
  • The rapid recognition of the symptoms of the Waterhouse–Friderichsen Syndrome was a key element to administer the proper treatment in this life threatening condition.[shmabstracts.com]
  • Prophylactic treatments include attenuated androgens and C1 inhibitor.[primaryimmune.org]
  • Any other aspects of treatment that may interfere with your ability to function. 2. Variability of your response to treatment. Your response to treatment and the adverse or beneficial consequences of your treatment may vary widely.[ssa.gov]
  • Scientists are exploring gene therapy treatment to replace the defective gene that is the basis of many primary immunodeficiency disorders.[uchicagokidshospital.org]

Prognosis

  • Thereafter, the patients have a variable prognosis. GBS is a treatable disorder.[clinicaltrials.gov]
  • The prognosis varies with the abnormality and the severity of associated diseases. Causes Primary complement deficiencies are inherited as autosomal recessive traits, except for deficiency of C1 esterase inhibitor, which is autosomal dominant.[doctor-clinic.org]
  • In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.[genecards.org]
  • Prognosis Since complement deficiencies include a wide range of disorders, the prognoses can also vary widely. Some patients remain healthy their entire life.[medical-dictionary.thefreedictionary.com]
  • Deficiencies of the components of the MAC (C5-C9) tend to lead to less severe infections and have a better prognosis with careful management.[patient.info]

Etiology

  • They may also have symptoms that suggest autoimmune disease and complement deficiency may be an etiologic factor in the development of autoimmune disease. Approximately 20 cases of C4 deficiency have been reported.[mayomedicallaboratories.com]
  • Inherited deficiencies are uncommon, while acquired deficiencies, due to a variety of etiologies, are much more common.[arupconsult.com]
  • It is suspected that genetic defects play a role in the etiology of these diseases. Causes and Treatments Modern high throughput technologies, like mRNA microarrays, have enabled researchers to investigate diseases at a genome-wide level.[courses.lumenlearning.com]
  • The diagnosis should be directed toward primary and secondary etiologies that are consistent with the clinical presentation and pattern of infections.[worldallergy.org]
  • Not infrequently the clinician may find it difficult to distinguish patients with an intact immune response and normal pattern of infections (or non-infectious etiologies) from those with a presentation reflecting primary or secondary immunodeficiency[antimicrobe.org]

Epidemiology

  • Relevant External Links for CFI Genetic Association Database (GAD) CFI Human Genome Epidemiology (HuGE) Navigator CFI Atlas of Genetics and Cytogenetics in Oncology and Haematology: CFI No data available for Genatlas for CFI Gene Mutations in alternative[genecards.org]
  • […] also include MBL testing, depending on clinical presentation Further testing based on disease presentation and initial testing – refer to Key Points and algorithm Monitoring Circulating immune complexes – may be useful for disease monitoring Background Epidemiology[arupconsult.com]
  • […] background on disease expression. ( 11859149 ) Mitchell D.A....Walport M.J. 2002 30 Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency. ( 10728448 ) Topaloglu R....Walport M.J. 2000 31 Molecular, genetic and epidemiologic[malacards.org]
  • Epidemiology Complement deficiencies are rare.[patient.info]
  • Epidemiology Frequency International Complement deficiencies are relatively rare worldwide, and estimates of prevalence are based on results from screening high-risk populations.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • The elucidation of the pathophysiological basis for the different clinical presentations of complement-deficient individuals has contributed to a better understanding of the physiological role of complement in normal individuals.[sinobiological.com]
  • Caccia S, Suffritti C and Cicardi M (2014) Pathophysiology of hereditary angioedema. Pediatric Allergy, Immunology, and Pulmonology 27: 159–163. Carroll MC (2004) The complement system in regulation of adaptive immunity.[els.net]
  • Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of C4 deficiency Investigation of a patient with an undetectable total complement (CH50) level Clinical Information Discusses physiology, pathophysiology, and general[mayomedicallaboratories.com]
  • 100 Factor H 100 FHR1 (FHR3) 100 (5% Caucasians) Factor 1 50 Thrombomodulin (CD141) 10 CD46/MCP 50 CD55/DAF CR2 (CD21) Rare CR3 (CD18/CD11b) 1/million Genetics Autosomal recessive – most complement deficiency disorders X-linked – properdin deficiency Pathophysiology[arupconsult.com]
  • Pathophysiology The complement cascade consists of 3 separate pathways that converge in a final common pathway.[emedicine.medscape.com]

Prevention

  • She received vaccinations and was taught about how to prevent and recognize future events.[shmabstracts.com]
  • Practicing safer sex and avoiding the sharing of body fluids may help prevent HIV/AIDS. Ask your provider if a medicine called Truvada is right for you to prevent HIV infection.[medlineplus.gov]
  • Prevention There is currently no way to prevent complement deficiencies.[doctor-clinic.org]
  • Primary immunodeficiency disorders can be controlled and treated, but they can’t be prevented. Secondary disorders can be prevented in a number of ways.[healthline.com]
  • Complement Protein H Deficiency is an immunological disorder caused by a deficiency of Factor H, a protein that prevents the immune system from attacking a person's own cells, but allows it to attack bacteria and viruses.[house.wikia.com]

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