Dr. Chitlur QA & with rare

Meera Chitlur, MD

Barnhart-Lusher Hemostasis Research Endowed Chair, Wayne State University Professor of Pediatrics, Central Michigan University Director, Hemophilia Treatment Center & Hemostasis Program & Special Coag. Lab Division of Hematology/Oncology, Children's Hospital Of Michigan

Q: What symptoms would lead you to suspect a rare coagulation disorder (different than F8, F9, and vWD)?

Dr. Chitlur: Petechiae or bruises from blood draws, or blood pressure checks. The symptoms are mostly similar, but not finding anything when you check for the common disorders should be the clue in itself.

Q: What lab testing should be considered if an ultra-rare bleeding disorder is suspected? How should patients advocate for testing beyond the typical F8, F9, and vWD panels?

Looking for other factor deficiencies (check other factor activities) and platelet dysfunction should be the norm when patients have symptoms.

Q: Do factor levels increase as people get older?

No significant differences occur as you get older.

Q: What advice would you give a newly diagnosed patient with an ultra-rare bleeding disorder?

1. Find a HTC with people who know about your disorder so that they can advocate for you.

2. Don’t hesitate to ask questions.

3. Have a plan for emergencies.

4. Have a plan for surgeries/dental work.

5. Wear your medical alert, it can save your life!

Q: What products are available to treat those with ultra-rare factor and platelet disorders?

Replacement of the missing protein may be required for major bleeds or prevention of bleeding.

• FI def: Cryoprecipitate or Riastap®

• FII: Prothrombin Complex Concentrates, FFP

• FV def: FFP

• FVII def: Novoseven® and Sevenfact®, FFP

• FX def: Coagadex®, FFP

• FXI def: FFP

• FXIII def: Corifact®, Tretten®, Cryoprecipitate, FFP

• Platelet disorders: Platelet transfusion, Novoseven if platelet antibodies are present

Minor bleeds and mucocutaneous bleeding (epistaxis and gum bleeding) may be treated with antifibrinolytics in many cases. Topical agents may also be considered.

Q: What considerations should someone with mild factor deficiency take while traveling or in choosing activities such as sports and recreation?

Choose wisely! Look at options that are associated with a low risk for head trauma or any major trauma. Individual activities such as swimming, golf, tennis, track may be better options for you. Even amongst these, swimming and golf may be the least likely to be associated with trauma and therefore the safest.

1. Also, must consider making sure you are ready for the activity. Make sure you stretch, warm up and help your muscles adjust to the activity rather than just jump into it. This will prevent muscle sprains and trauma related to poor conditioning.

2. Wear protective gear where necessary- always. Do not allow your friends to dictate what and how you do things.