December 2017 - Holiday Case Study

by Donna Castellone, MS, MT (ASCP) SH • December 11, 2017

December 2017 - Holiday Case Study

Working in a hospital during the major holidays - essentially from Thanksgiving to Christmas, can be a blur. Between the holiday parties, family obligations and the flu- patients still come and go, reagents need to be validated, competency assessment still happens and all year end records need to be completed and 2018 ones generated. In spite of all of this, the coagulation laboratory continues and patients present with strange symptoms- so here is a case study- the names have been changed to maintain protected health information.

This is a story about 2 of Santa's elves. How many elves does Santa have? Well if you assume there are 2 billion children, 1 toy each, 364 workdays (Christmas day through the following December 23rd - then packing the sleigh on Christmas Eve), and each elf can make 4 toys per hour, you need around 85,851 elves. That is a lot of elves and a interesting gene pool! In particular we are looking at 2 elves: Sugarplum Mary and Alabaster Snowball.

Sugarplum Mary is the head of sweet treats, Mary is the most marvelous of cooks and is the top assistant to Mrs. Claus in the kitchen. She also teaches Kung Fu to the young elves every Friday afternoon. Alabaster Snowball is a character, and very intelligent, with 2 university degrees. Most important he is the administrator of the "Naughty or +Nice List". They are also brother and sister.

Alabaster Snowball presents to the North Pole ED after an excessive bleed from a fall from a ladder. His past medical history includes a diagnosis of mild hemophilia.

    PT = 16.3 sec (11.5-13.5)
    aPTT = 56.5 sec (25.9-37.2 sec)
    FVIII = 18%

Ristocetin cofactor (R: CoF): 112% ( nr= 50-150%)
von Willebrand antigen (vWFAg): 120% (nr= 50-150%)
Normal von Willebrand testing

    Diagnosis: Hemophilia A

    In mild hemophilia, patients present with FVIII levels gt;5 lt;40% and is usually discovered after an event of when screened for surgery. Hemophilia A is caused by a defect in clotting protein. FVIII is an inherited disorder identified 1500 years ago. In Jewish law, if 2 older brothers died after circumcision, the third was not allowed to have the procedure. Sex-linked recessive, found on the X chromosome, disorder is almost exclusively in males. One in 5,000 males born has hemophilia. All races and economic groups are affected equally. Present with joint bleeds, intracranial bleeds, and intramuscular bleeds.

    While the Factor VIII =18%, it was also noted that the PT was prolonged and both corrected when mixed:

      PT = 19.3 sec (11.5-13.5)
      1:1 mix= 12.1
      aPTT= 56.5 sec (25.9-37.2 sec)
      1:1 mix = 34.7

      Additional family history includes episodes of prolonged dental bleeding, as well as a GI bleed with the absence of hemarthrosis. It was also noted that Sugarplum Mary also had some bleeding episodes, and it appears that their parents were second cousins- so an incidence of consanguinity. It was decided to check out her coagulation status, since she has presented with heavy menses (HgB is 9.0 g/dL) and intermittent nose bleeding as a child.

      An evaluation for a bleeding work-up was ordered

        PT= 17.1 sec 1:1 mix = 12.4 sec
        APTT= 42.1 sec
        Mixing study: APTT 1:1 mix = 31.5 sec
        FVIII= 38%
        von Willebrand work-up- normal
        Female- carrier of hemophilia

          It appears that the prolonged PT was never investigated. PT based factor assay results were as follows:

          Factor II

          Factor V

          Factor VII

          Factor X

          Alabaster Snowball





          Sugar Plum Mary





          It appears that both are deficient in Factor V deficiency is also known as Owren disease.

          Dr. Paul Owren identified this defect in Norway in 1943 as the existence of a fifth component required for fibrin formation, hence factor V. Factor V deficiency has also been called parahemophilia, since hemarthrosis can occur with severe deficiencies. Synthesized in the liver and possibly in megakaryocytes.

          Only 150 cases of congenital factor V deficiency have been reported worldwide since 1943. Homozygous factor V deficiency is rare, occurring in approximately 1 per million population. Severity varies from bruising to lethal hemorrhage. No apparent racial predilection for factor V deficiency exists, therefore elves do not appear to be excluded. Factor V deficiency affects all ages. The age at presentation indirectly varies with the severity of disease.

          While the inheritance is autosomal recessive, other modes of inheritance have been described. Heterozygotes have lowered levels of factor V but probably never bleed abnormally. Consanguinity has been observed in families with factor V deficiency Heterozygous deficiency states are generally unrecognized because of a lack of significant clotting time prolongation or bleeding risk.

          Clinical Manifistations include bleeding into the skin, excessive bruising with minor injuries, nosebleeds, bleeding into gums, excessive menstrual bleeding and prolonged or excessive loss of blood with surgery or trauma, bleeding in mucosal tracts (gastrointestinal, urinary), hemarthrosis and flexion contracture, bleeding during delivery and postpartum, intracerebral hemorrhages as well as pulmonary hemorrhage. The severity of bleeding symptoms is only partly related to the degree of factor V deficiency in plasma. Some patients with undetectable plasma levels of factor V experience only relatively mild bleeding.

          The outcome is Alabaster Snowfall has a simultaneous FV and FVIII deficiency while Sugar Plum Mary appears to have a FV deficiency as well as a carrier for hemophilia.

          And so you have the interesting story of these 2 very important elves and their diagnosis. Despite their diagnosis, they continue to work and contribute to the holiday season.

          Whatever you celebrate, I wish you and your family a wonderful, happy and healthy season. Remember to give back, donate time, or a toy it always feels even better than giving. Thank your coagulation techs for all their hard work and dedication- and take time for yourself!