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Table 2 The journey towards a diagnosis of primary antibody deficiency

From: Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective

Patient The diagnostic pathway
1 Doctor GP ENT specialist (1st trajectory) ENT specialist (2nd trajectory) Pulmonologist Oncologist  
Signs and symptoms Recurrent upper airway infections Recurrent upper airway infections Recurrent upper airway infections Chronic cough, episodic dyspnea, especially at night Recurrent upper airway infections, weight loss, frequent hospital admission for respiratory infections, night sweats, splenomegaly  
Attribution n/a Nasal polyps n/a Asthma Leukemia, non-Hodgkin lymphoma  
Action Referral to ENT specialist Polypectomy Prednisone, antibiotics, tympanoplasty Pulmonary function test, increasing the dose of inhalation corticosteroids, prophylactic antibiotics Hospital admission, extensive examinations leading to CVID diagnosis  
2 Doctor GP (1st trajectory) ENT specialist GP (2nd trajectory) Gastro-enterologist Immunologist  
Signs and symptoms Chronic rhinitis, chronic fatigue, hypothyroidism Chronic rhinitis Stomach and bowel complaints, chronic fatigue, frequent GP visits Stomach and bowel complaints, infiltrative enterocyte lesions (Marsh 1)   
Attribution Chronic rhinitis not further specified Nasal septum deviation Gastritis not further specified Irritable bowel syndrome   
Action Referral to ENT specialist Septoplasty, steroid nasal spray Antacids, and after persistent symptoms, referral to gastro-enterologist Gluten-free diet was considered, peppermint oil, referral to immunologist after IgA-deficiency was discovered   
3 Doctor GP (1st trajectory) Psychologist GP (2nd trajectory) Patient Immunologist  
Signs and symptoms Chronic cough, recurrent otitis, burn-out symptoms Feeling worn out, burn-out symptoms Chronic cough, recurrent otitis, burn-out symptoms Chronic cough, recurrent otitis, burn-out symptoms, ITP, alopecia areata See under ‘patient’  
Attribution Recurrent bronchitis in combination with psychological factors The combination of being always ill, working and taking care of a newborn child n/a Some kind of auto-immune disease Immunologic or auto-immune disorder  
Action Antibiotic treatment, bronchodilators, referral to psychologist Referral back to GP Advise to the patient to google to find out the cause of complaints Arranging own referral to immunologist/
rheumatologist
Extensive laboratory investigations after which the CVID diagnosis was made  
4 Doctor GP (1st trajectory) Pulmonologist ENT specialist GP (2nd trajectory) Pulmonologist Immunologist
Signs and symptoms Recurrent rhinitis/ pneumonia/ sinusitis Recurrent rhinitis/ pneumonia/ sinusitis Recurrent rhinitis/ pneumonia/ sinusitis Persistent, recurrent respiratory infections, meningitis Persistent, recurrent respiratory infections, meningitis Persistent, recurrent respiratory infections, meningitis, inguinal lymphadenopathy, weight loss
Attribution n/a Obstruction of sinus drainage, bacterial pneumonia Obstruction of sinus drainage n/a Bacterial pneumonia PID
Action Referral to pulmonologist Chest X-ray, therapeutic and prophylactic antibiotic treatment, referral to ENT specialist Endoscopic sinus surgery Referral to pulmonologist Chest X-ray, antibiotics, referral to immunologist after IgA-deficiency was discovered Extensive laboratory investigations after which the CVID diagnosis was made
5 Doctor GP Immunologist     
Signs and symptoms Recurrent meningitis, otitis, chronic sinusitis, positive family history Recurrent meningitis, otitis, chronic sinusitis, positive family history     
Attribution   PID     
Action Referral to immunologist Extensive laboratory investigations after which the XLA diagnosis was made     
6 Doctor GP Pulmonologist (1st trajectory) Pulmonologist (2nd trajectory)    
Signs and symptoms Recurrent respiratory infections / sinusitis / pneumonia, bronchial hyperreactivity, fatigue, exercise intolerance Recurrent respiratory infections / sinusitis / pneumonia, bronchial hyperreactivity, fatigue, exercise intolerance Streptocococcus pneumoniae pneumonia and persistent Haemophilus influenzae colonization despite antibiotic treatment    
Attribution n/a Bacterial pneumonia and asthma Possible CVID    
Action Referral to pulmonologist Sputum cultures, therapeutic and prophylactic antibiotic treatment After discovery of low serum immunoglobulins, treatment with intravenous immunoglobulins    
7 Doctor Pediatrician      
Signs and symptoms Recurrent otitis / rhinitis / sinusitis, chronic cough, skin abscess, pneumonia, failure to thrive      
Attribution PID      
Action Extensive laboratory investigations after which the unPAD diagnosis was made      
8 Doctor GP (1st trajectory) Pulmonologist ENT specialist GP (2nd trajectory) Immunologist  
Signs and symptoms Recurrent otitis/ rhinitis/ sinusitis/ pneumonia Recurrent otitis/ rhinitis/ sinusitis/ pneumonia Recurrent otitis/ rhinitis/ sinusitis/ pneumonia His two sons were diagnosed with CVID by a pediatrician Recurrent otitis/ rhinitis/ sinusitis/ pneumonia, two sons were diagnosed with CVID by a pediatrician, recurrent varicella zoster and Giardia lamblia infections, warts, anosmia  
Attribution n/a Bacterial pneumonia Nasal septum deviation/ polyps Possible CVID Possible CVID  
Action Referral to ENT specialist and pulmonologist Prophylactic and repeated therapeutic antibiotic treatment Prophylactic and repeated therapeutic antibiotic treatment Referal to immunologist Extensive laboratory investigations after which the CVID diagnosis was made  
9 Doctor GP (1st trajectory) GP (2nd trajectory) GP (3rd trajectory) Pulmonologist ENT specialist Immunologist
Signs and symptoms Recurrent otitis/ sinusitis/ skin infections, poor wound healing, chicken pox (2x), mumps Dyspnea, wheezing, chronic cough Fatigue, stomach and bowel complaints Dyspnea, wheezing, chronic cough, recurrent respiratory infections Recurrent sinusitis and pneumonia despite PnPS and Hib vaccination and antibiotic treatment Recurrent sinusitis and pneumonia despite PnPS and Hib vaccination and antibiotic treatment
Attribution Recurrent infections in infancy Asthma Graves’ disease Asthma Possible PID Possible PID
Action None Inhalation corticosteroids, referral to pulmonologist Antithyroid medication Increasing the dose of inhalation corticosteroids, repeatedly oral prednisolone and antibiotic treatment Functional endoscopic sinus surgery and referral to immunologist Extensive laboratory investigations after which the unPAD diagnosis was made
10 Doctor GP (1st trajectory) GP (2nd trajectory) GP (3rd trajectory) GP (4th trajectory) Internist (1st trajectory) Internist (2nd trajectory)
Signs and symptoms Fatigue, aphthous lesions Erythema nodosum Erythema nodosum + splenomegaly Erythema nodosum + splenomegaly, enlarged supraclavicular lymph node Erythema nodosum + splenomegaly, enlarged supraclavicular lymph node Erythema nodosum + splenomegaly, enlarged supraclavicular lymph node
Attribution Iron deficiency anemia Mosquito bites Some kind of viral infection Possible malignancy Sarcoidosis  
Action Iron supplementation ‘Wait and see’ Blood test showed mild pancytopenia; initially ‘wait and see’ Referral to internist Exclusion of lymphoma after histological examination of lymph node, chest X-ray, discussion in a multidisciplinary team After suggestion of a colleague to test for immunoglobulins, the diagnosis of CVID was made
11 Doctor GP Pediatrician (1st trajectory) ENT specialist Pediatrician (2nd trajectory) Pulmonologist Immunologist
Signs and symptoms Recurrent rhinitis/ otitis/ sinusitis, fatigue, growth retardation, chronic diarrhea Recurrent rhinitis/ otitis/ sinusitis, fatigue, growth retardation, chronic diarrhea Recurrent rhinitis/ otitis/ sinusitis, fatigue, growth retardation, chronic diarrhea Persistent infections despite prophylactic antibiotics and multipe ENT surgeries, extreme fatigue, growth retardation Persistent infections despite prophylactic antibiotics and multipe ENT surgeries, extreme fatigue, growth retardation Persistent infections despite prophylactic antibiotics and multipe ENT surgeries, extreme fatigue, growth retardation
Attribution   Possible celiac disease, recurrent infections in infancy Reactive mucosa, recurrent infections in infancy Combination of recurrent infections in infancy and psychological factors Possible CF/PCD Possible selective IgA-deficiency
Action Referral to ENT specialist en pediatrician Referral to dietician, prophylactic antibiotics after low IgA was discovered during screening for celiac disease Tonsillectomy, adenotomy, tympanoplasty, functional endoscopic sinus surgery Referal to psychologist en pulmonologist Analyses for CF and PCD were negative; referral to immunologist Selective IgA-deficiency confirmed
12 Doctor Pediatrician Pulmonologist (1st trajectory) ENT specialist Pulmonologist (2nd trajectory)   
Signs and symptoms Recurrent sinusitis/ pharyngitis/ respiratory tract infections, fatigue Multiple hospital admisions due to asthma (> 40x) Recurrent sinusitis/ pharyngitis/ respiratory tract infections, fatigue, retropharyngeal abcess Still frequent asthma exacerbations despite high-dose inhalation corticosteroids   
Attribution (Severe) asthma and multiple allergies (Severe) asthma and multiple allergies Reactive mucosa, bacterial infections (Severe) asthma and multiple allergies   
Action Inhalation corticosteroids, referal to pulmonologist and ENT specialist Frequently oral prednisolone, increasing the dose of inhalation corticosteroids, repeatedly antibiotics, subcutaneous epinephrine always available Abscess drainage, tonsillectomy, multiple sinus surgeries IgG-subclass deficiency discovered after immunological screening   
13 Doctor GP (1st trajectory) GP (2nd trajectory) GP (3rd trajectory) Internist (1st trajectory) Internist (2nd trajectory) Pulmonologist
Signs and symptoms Iron deficiency anemia, recurrent lymphadenopathy and cystitis, fatigue Recurrent respiratory infections (including proven pneumonia)/ sinusitis/ otitis Chronic diarrhea, abdominal pain Chronic diarrhea, abdominal pain Persistent abdominal pain, vomiting, recurrent respiratory infections Persistent abdominal pain, vomiting, recurrent respiratory infections
Attribution Some kind of viral infection Asthma, bacterial pneumonia Possible diverticulitis Possible diverticulitis n/a CVID, possible bronchiectasis
Action Follow-up Antibiotics, inhalation corticosteroids, oral prednisolone Referal to internist Abdominal CT confirmed diverticulitis and kidney stones Extensive laboratory investigations after which CVID was diagnosed, referal to pulmonologist for screening for bronchiectasis Thymoma was coincidentally found on chest CT scan, Good syndrome was diagnosed
14 Doctor GP (1st trajectory) Gynaecologist GP (2nd trajectory) Psychiatrist Patient Immunologist
Signs and symptoms Recurrent sinusitis and pneumonia, odontogenic infections, sepsis Severe wound infection after cesarean section Fatigue, exercise intolerance Fatigue, exercise intolerance Recurrent sinusitis and pneumonia, odontogenic infections, sepsis, fatigue, exercise intolerance, persistent Helicobacter Pylori and Giardia lamblia infections despite treatment, recurrent cystitis, chronic slightly elevated body temperature Recurrent sinusitis and pneumonia, odontogenic infections, sepsis, fatigue, exercise intolerance, persistent Helicobacter Pylori and Giardia lamblia infections despite treatment, recurrent cystitis, chronic slightly elevated body temperature
Attribution Viral and bacterial infections Bacterial infection Menopause and psychological factors Psychological factors Possible PID Possible PID
Action Repeatedly antibiotics Prophylactic antibiotics during second cesarean section Referral to psychiatrist Treatment for stress (not further specified) Arranging own referral to immunologist Extensive laboratory investigations after which CVID was diagnosed
  1. CF cystic fibrosis, CVID common variable immunodeficiency disorders, ENT ear-nose-throat, F female, IgGscdef IgG-subclass deficiency, ITP idiopathic thrombocytopenic purpura, GP general practitioner, M male, n/a not applicable, PCD primary ciliary dyskinesia, PID primary immunodeficiency, slgAdef selective IgA-deficiency, unPAD unclassified primary antibody deficiency, XLA X-linked agammaglobulinemia