BERNARD- SOULIER DISEASE

Bernard- Soulier Disease (BSD) is a hematologic abnormality discovered in 1948 by Drs Bernard and Soulier that mainly affects the platelets. Platelets are a minute, disc-shaped component of the blood which is responsible for making the bleeding ceased. A typical hallmark of the BSD is the presence of larger than standard platelet size. 

This disease is very infrequent since it occurs in one-millionth of the population. The disease affects both genders but is more likely to be severe among males.

TYPES

Bernard Soulier Disease is said to be an inherited condition though it is carried as a weak trait.  BSD can only manifest in the presence of both maternal and paternal genes carrying the abnormality. However, if the individual inherits a normal gene coupled with a BSD gene classifies the person as a carrier of such syndrome. 

SYMPTOMS

Bernard Soulier disease is an incidental finding and is commonly found on routine physical examination before undergoing surgery or tooth extraction. Some of the symptoms, however, can be very mild that people tend to disregard them until the diagnosis is given. Listed here are the common presentations in no particular order:

  • Bleeding from the nose or gums especially in the absence of any mechanical manipulation
  • Hematoma formation on some areas of the body resulting from bumping on to objects
  • Abnormal or Irregular monthly period (may have prolonged periods with moderate to heavy blood flow). Other causes, such as hormonal imbalances and other hematologic disorders, should be ruled out first before making BSD a consideration.
  • Passing out of black stools (this color may be standard among individuals taking iron supplements or ate highly pigmented foods days before the episode), but this can be quite alarming for people who don’t make such medications or those who follow strict diets.

DIAGNOSIS

Diagnosis is usually made by direct visualization of large platelets and the presence of megakaryocytes (precursor cells of platelets) under the microscope on peripheral blood smears or routine complete blood count. Automated counters which are employed in laboratory medicine may mistake these platelets as red blood cells giving you a false negative result. 

Bleeding parameters are prolonged among patients with BSD. 

The utilization of flow cytometry machines can identify the defects in the glycoprotein component of the platelets.

TREATMENT

Treatment of Bernard Soulier Disease is mainly symptomatic and supportive. 

  • Identify and withhold any medications that can potentially cause bleeding (e.g., Novel oral anticoagulants, warfarin, gingko biloba, aspirin to name a few)
  • In cases of bleeding perioperatively, transfusion of platelet-rich plasma or platelet concentrate can stop the bleeding 
  • Desmopressin Acetate is a drug that is used to prevent nocturnal diuresis simulating the effects of vasopressin, which conserves the body’s water by inhibiting urination. 
  • Individuals with this condition may need to avoid extreme sports; engaging in such can only predispose the person to multiple hematomas and bleeding, especially from minor cut and bruises.

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