Medizinonline Medizinonline
  • News
    • News
    • Market & Medicine
  • Patients
    • Disease patterns
    • Diagnostics
    • Therapy
  • Partner Content
    • Dermatology
      • Atopic dermatitis and psoriasis news
      • Dermatology News
    • Diabetes
      • Dia-Month Club – Type 2 Diabetes
      • Diabetes in Motion
      • Diabetes Podcasts
    • Gastroenterology
      • IBD matters
      • Ozanimod: ulcerative colitis
      • Reflux Update
    • Immunology
      • Primary immunodeficiency – exchange of experience
    • Vaccinate
      • Herpes zoster
    • Infektiologie
    • Neurology
      • EXPERT ULTRASONIC: Introduction to ultrasound-guided injection
      • MS News
      • MS Therapy in Transition
    • Oncology
      • Swiss Oncology in motion
    • Orthopedics
      • Osteoporosis in motion
    • Phytotherapie
    • Practice Management
      • Aargau Cantonal Bank
      • Claraspital
    • Psychiatry
      • Geriatric Psychiatry
    • Rheumatology
  • Departments
    • Allergology and clinical immunology
    • General Internal Medicine
    • Anesthesiology
    • Angiology
    • Surgery
    • Dermatology and venereology
    • Endocrinology and Diabetology
    • Nutrition
    • Gastroenterology and Hepatology
    • Genetics
    • Geriatrics
    • Gynecology
    • Hematology
    • Infectiology
    • Cardiology
    • Nephrology
    • Neurology
    • Emergency and intensive care medicine
    • Nuclear Medicine
    • Oncology
    • Ophthalmology
    • ORL
    • Orthopedics
    • Pediatrics
    • Pharmacology and toxicology
    • Pharmaceutical medicine
    • Phlebology
    • Physical medicine and rehabilitation
    • Pneumology
    • Prevention and health care
    • Psychiatry and psychotherapy
    • Radiology
    • Forensic Medicine
    • Rheumatology
    • Sports Medicine
    • Traumatology and trauma surgery
    • Tropical and travel medicine
    • Urology
    • Dentistry
  • CME & Congresses
    • CME continuing education
    • Congress Reports
    • Congress calendar
  • Practice
    • Noctimed
    • Practice Management
    • Jobs
    • Interviews
  • Log In
  • Register
  • My account
  • Contact
  • English
    • Deutsch
    • Français
    • Italiano
    • Português
    • Español
  • Publications
  • Contact
  • Deutsch
  • English
  • Français
  • Italiano
  • Português
  • Español
Subscribe
Medizinonline Medizinonline
Medizinonline Medizinonline
  • News
    • News
    • Market & Medicine
  • Patienten
    • Krankheitsbilder
    • Diagnostik
    • Therapie
  • Partner Content
    • Dermatology
      • Atopic dermatitis and psoriasis news
      • Dermatology News
    • Diabetes
      • Dia-Month Club – Type 2 Diabetes
      • Diabetes in Motion
      • Diabetes Podcasts
    • Gastroenterology
      • IBD matters
      • Ozanimod: ulcerative colitis
      • Reflux Update
    • Immunology
      • Primary immunodeficiency – exchange of experience
    • Vaccinate
      • Herpes zoster
    • Infektiologie
    • Neurology
      • EXPERT ULTRASONIC: Introduction to ultrasound-guided injection
      • MS News
      • MS Therapy in Transition
    • Oncology
      • Swiss Oncology in motion
    • Orthopedics
      • Osteoporosis in motion
    • Phytotherapie
    • Practice Management
      • Aargau Cantonal Bank
      • Claraspital
    • Psychiatry
      • Geriatric Psychiatry
    • Rheumatology
  • Departments
    • Fachbereiche 1-13
      • Allergology and clinical immunology
      • General Internal Medicine
      • Anesthesiology
      • Angiology
      • Surgery
      • Dermatology and venereology
      • Endocrinology and Diabetology
      • Nutrition
      • Gastroenterology and Hepatology
      • Genetics
      • Geriatrics
      • Gynecology
      • Hematology
    • Fachbereiche 14-26
      • Infectiology
      • Cardiology
      • Nephrology
      • Neurology
      • Emergency and intensive care medicine
      • Nuclear Medicine
      • Oncology
      • Ophthalmology
      • ORL
      • Orthopedics
      • Pediatrics
      • Pharmacology and toxicology
      • Pharmaceutical medicine
    • Fachbereiche 26-38
      • Phlebology
      • Physical medicine and rehabilitation
      • Phytotherapy
      • Pneumology
      • Prevention and health care
      • Psychiatry and psychotherapy
      • Radiology
      • Forensic Medicine
      • Rheumatology
      • Sports Medicine
      • Traumatology and trauma surgery
      • Tropical and travel medicine
      • Urology
      • Dentistry
  • CME & Congresses
    • CME continuing education
    • Congress Reports
    • Congress calendar
  • Practice
    • Noctimed
    • Practice Management
    • Jobs
    • Interviews
Login

Sie haben noch keinen Account? Registrieren

  • Paroxysmal nocturnal hemoglobinuria

Rare, but well treatable – therefore remember it in practice!

    • General Internal Medicine
    • Hematology
    • News
    • RX
  • 4 minute read

Paroxysmal nocturnal hemoglobinuria (PNH) reduces the life expectancy of affected patients and often drastically limits their quality of life. Early diagnosis is extremely important, because today a targeted therapy is available in the form of eculizumab, which significantly improves the prognosis. Unfortunately, PNH symptoms are nonspecific. Primary care providers can still do much to speed diagnosis by thinking about the clinical picture of PNH.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder of hematopoiesis. Due to an acquired, non-heritable gene mutation in the hematopoietic stem cells, the cell surfaces of the erythrocytes lack certain proteins that protect the blood cells from attack by the complement system. As a result, the erythrocytes are destroyed intravasally.

PNH causes multiple but only nonspecific symptoms. Typical symptoms are chronic fatigue, abdominal, head and chest pain, dyspnea, dysphagia and, in men, erectile dysfunction (tab. 1) . Because these symptoms are so nonspecific, patients often receive inadequate and untargeted treatment for months and years. This is fatal because the disease is chronically progressive and the risk of complications increases with the duration of the disease.

High mortality and morbidity

As a result of chronic hemolysis, iron overload and liver and kidney damage may occur. In addition, PNH is associated with thrombophilia, which greatly increases the risk of thromboembolic events: 28-49% of all PNH patients experience at least one thromboembolism during the course of the disease, with corresponding consequences such as cerebral stroke, myocardial infarction, pulmonary embolism, abdominal ischemia, deep vein thrombosis, etc. Thromboembolism is also the most common cause of death in patients with PNH, the second most common being chronic renal failure. 35% of PNH patients die within the first five years of diagnosis, 50% within the first ten years. Patient morbidity is often significant due to chronic fatigue and pain, and many experience frequent hospitalizations and work disability.

Diagnostics: anemia is not always present

Because PNH is very rare and symptoms are nonspecific, it often takes years to make a correct diagnosis. To make the diagnosis, primary care providers need to do one thing above all: think about the possibility of PNH! If there are suspicious symptoms or If diseases are present, the following clarifications in the laboratory are advisable:

  • LDH: concentration increased
  • Haptoglobin: concentration decreased
  • D-dimers: concentration increased during thromboembolic events
  • Anemia is sometimes present, but not always!

If PNH is suspected, the patient should be referred to a hematologist (Fig. 1) . The gold standard for confirming a diagnosis of PNH is flow cytometric analysis of erythrocytes and granulocytes in a peripheral blood sample to demonstrate the absence of surface proteins on the blood cells.

Therapy with Eculizumab

Supportive measures such as transfusions, analgesics, and anticoagulation are used to treat PNH. For some years now, in Switzerland since 2010, a targeted therapy has also been available in the form of eculizumab (Soliris®). Eculizumab is a monoclonal antibody against complement factor C5. Treatment with eculizumab reduces intravascular hemolysis and dramatically lowers the risk of thromboembolism in PNH patients.

These effects have a decisive impact on the prognosis of PNH patients: studies show that their life expectancy increases significantly with eculizumab treatment: The 5-year survival rate is 95.5% in treated patients and 66.8% in non-treated patients. The treated patients thus achieve a life expectancy that no longer differs from that of the general population.

In Switzerland, the indication for therapy must be given in a university hospital or in one of the cantonal hospitals Aarau, Bellinzona, Lucerne, or St. Gallen can be provided. The controls of patients in the context of registries must also take place in these centers. Administration of eculizumab between these controls may be done at a local hospital.

Further reading:

  • Swiss Compendium of Medicinal Products, Specialist Information Soliris.
  • Audebert HJ, et al: J Neurol 2005; 252(11): 1379-1386.
  • Borowitz MJ, et al: Cytometry B Clin Cytom 2010; 78(4): 211-230.
  • Brodsky RA: PNH. Hematol. Basic Princ. Pract. 4th Ed. Philadelphia: Elsevier Churchill Livingstone; 2005; 419-427.
  • Federal Office of Public Health, Soliris Specialty List.
  • Gerber B, et al: BMJ Case Rep 2011; 2011.
  • Hill A, et al: Br J Haematol 2010; 149(3): 414-425.
  • Hill A, et al: Br J Haematol 2007; 137: 181-192.
  • Hill A, et al: Blood (ASH Annual Meeting Abstracts) 2006; 108: 985.
  • Hill A, et al: Blood 2013; 121(25): 4985-4996, quiz 5105.
  • Hillmen P, et al: Blood 2007; 110(12): 4123-4128.
  • Hillmen P, et al: Am J Hematol 2010; 85(8): 553-559.
  • Hillmen P, et al: Br J Haematol 2013; 162(1): 62-73.
  • Hillmen P, et al: N Engl J Med 1995; 333(19): 1253-1258.
  • Kelly RJ, et al: Blood 2011; 117(25): 6786-6792.
  • Lee JW, et al: Int J Hematol 2013; 97(6): 749-757.
  • Meyers G, et al: Blood (ASH Annual Meeting Abstracts) 2007; 110: 3683.
  • Moyo VM, et al: Br J Haematol 2004; 126(1): 133-138.
  • Parker C, et al: Blood 2005; 106(12): 3699-3709.
  • Rother RP, et al: JAMA 2005; 293(13): 1653-1662.
  • Schrezenmeier H, et al: Haematologica 2014; 99(5): 922-929.
  • Socié G, et al: Lancet 1996; 348(9027): 573-577.

HAUSARZT PRAXIS 2015; 10(4): 25-26

Autoren
  • Dr. med. Eva Ebnöther
Publikation
  • HAUSARZT PRAXIS
Related Topics
  • Eculizumab
  • Hemoglobinuria
  • PNH
Previous Article
  • Diabetes Highlights 2014

Weight reduction: the best diet is the one that the patient sticks to

  • Congress Reports
  • Endocrinology and Diabetology
  • Nutrition
  • RX
View Post
Next Article
  • Metastatic colorectal cancer

Does vitamin D put the brakes on tumors?

  • Congress Reports
  • Gastroenterology and Hepatology
  • Oncology
  • RX
  • Studies
View Post
You May Also Like
View Post
  • 6 min
  • Case report, molecular basis and therapeutic implications

HER2-positive colorectal carcinoma with invasive micropapillary component

    • Cases
    • Education
    • Gastroenterology and Hepatology
    • Oncology
    • RX
    • Studies
View Post
  • 7 min
  • Wound Care

Chronically infected wound on the lower leg – a case report

    • Cases
    • Congress Reports
    • Dermatology and venereology
    • Endocrinology and Diabetology
    • Geriatrics
    • Orthopedics
    • Prevention and health care
    • RX
    • Surgery
View Post
  • 5 min
  • From symptom to diagnosis

Dyspnea – thoracic lymphoma

    • Cases
    • Education
    • General Internal Medicine
    • Oncology
    • Pneumology
    • Radiology
    • RX
View Post
  • 5 min
  • Hemophilia A and B

Personalized approach and innovative treatment options

    • Education
    • General Internal Medicine
    • Hematology
    • RX
    • Studies
View Post
  • 6 min
  • Diagnosis and treatment of neurological and psychiatric illnesses

Precision Neurology

    • Education
    • Neurology
    • Psychiatry and psychotherapy
    • RX
    • Studies
View Post
  • 5 min
  • Type 2 diabetes

Pharmacotherapy can lead to remission

    • Education
    • Endocrinology and Diabetology
    • Nutrition
    • Pharmacology and toxicology
    • RX
View Post
  • 4 min
  • Case Report

Mycosis fungoides in an 11-year-old child

    • Allergology and clinical immunology
    • Cases
    • Dermatology and venereology
    • Education
    • Oncology
    • Pediatrics
    • RX
    • Studies
View Post
  • 6 min
  • EHA 2025

Progress in multiple myeloma

    • Congress Reports
    • Hematology
    • Oncology
    • RX
    • Studies
Top Partner Content
  • Herpes zoster

    Zum Thema
Top CME content
  • 1
    Colorectal cancer screening – an update
  • 2
    Yellow nail and Swyer-James syndrome
  • 3
    Individual therapy management for an optimized outcome – an update
  • 4
    Doing sport without fear or risk
  • 5
    UV protection and skin cancer screening – Update 2025

Newsletter

Sign up and stay up to date

Subscribe
Medizinonline
  • Contact
  • General terms and conditions
  • Imprint

Input your search keywords and press Enter.