Understanding Vitamin K Deficiency: A Case Study of Coagulopathy in a Young Patient with Spinal Muscular Atrophy

By SWA

Vitamin K is an essential nutrient that plays a critical role in blood clotting, helping to prevent excessive bleeding. It acts as a cofactor for the gamma-carboxylation of specific proteins in the coagulation cascade—a complex process involving a series of steps that allow blood to clot properly. When vitamin K is deficient, this process is disrupted, leading to potential bleeding issues that can range from mild to severe.

What is Vitamin K Deficiency (VKD)?

Vitamin K deficiency occurs when the body does not have enough vitamin K to properly activate the proteins necessary for blood clotting. The clinical spectrum of VKD varies widely. Some individuals may experience no symptoms, while others may face significant bleeding issues. VKD is most commonly seen in newborns, but it can also develop in older patients who have certain risk factors such as:

  • Sub-optimal nutrition: Diets lacking in vitamin K-rich foods like leafy greens can contribute to deficiency.
  • Fat malabsorption conditions: Diseases that interfere with fat absorption, such as cystic fibrosis or celiac disease, can lead to inadequate vitamin K absorption since it is a fat-soluble vitamin.
  • Medications: Certain medications, including antibiotics, can affect the gut microbiome and impair vitamin K synthesis by intestinal bacteria.

A Case Study of Vitamin K Deficiency in a Teen with Spinal Muscular Atrophy

To illustrate the effects of VKD, consider the case of a 17-year-old male with spinal muscular atrophy (SMA) Type 1. He was ventilator-dependent due to a tracheostomy and received his nutrition via a gastrostomy tube. Recently, he was seen by a gastroenterologist following treatment for small intestinal bacterial overgrowth (SIBO), a condition that disrupts the balance of gut bacteria.

During his evaluation, he was found to have coagulopathy, a condition where the blood’s ability to clot is impaired. He was transferred to the Pediatric ICU after tests showed alarming clotting times:

  • Prothrombin Time (PT): 114 seconds (Normal range: 9.4-12.5 seconds)
  • International Normalized Ratio (INR): 12.6 (Normal: <1.1)
  • Partial Thromboplastin Time (PTT): 90 seconds (Normal range: 25.1-36.5 seconds)

These results indicated a severe bleeding risk. Further testing, including mixing studies and coagulation assays, confirmed VKD with significantly low levels of Factor VII and Factor IX, both dependent on vitamin K, while Factor V and von Willebrand Factor (VWF) levels were normal.

Dietary and Nutritional Gaps

The patient’s diet consisted of a blenderized feeding regimen, which met his caloric requirements but did not meet the Adequate Intake (AI) values for vitamin K and other essential minerals. This underscores a common issue: blenderized or homemade tube feeds may not always provide complete nutrition, especially if not carefully planned.

Treatment and Recovery

To address his severe VKD, the patient was treated with intravenous vitamin K (phytonadione) for five consecutive days. This intervention corrected his coagulation profile:

  • PT improved to 13.2 seconds
  • PTT improved to 37.1 seconds
  • INR improved to 1.2

After stabilization, he was discharged on enteral vitamin K and additional supplements, following a dietary review by a nutritionist.

Von Willebrand disease (VWD) type 2 is a bleeding disorder where the von Willebrand factor (VWF) protein doesn’t work properly. VWF is important for blood clotting, and in type 2 VWD, the problem isn’t the amount of VWF but how it functions. Type 2 is divided into four subtypes: 2A, 2B, 2M, and 2N, each with its own unique issues:

  1. Type 2A: VWF doesn’t stick well to platelets (tiny cells that help blood clot) or the blood vessel walls, leading to frequent nosebleeds, easy bruising, and bleeding from the skin and mucous membranes (like gums).

  2. Type 2B: VWF sticks to platelets too well, causing them to get used up quickly, which can also lead to bleeding, especially from the skin and mucous membranes.

  3. Type 2M: VWF has trouble sticking to platelets but does not get cleared as quickly as in type 2A, leading mainly to bleeding in soft tissues, like muscles or under the skin.

  4. Type 2N: VWF can’t bind properly to another clotting protein called factor VIII, which leads to problems with blood clotting and increased bleeding risk.

Overall, type 2 VWD affects about 20-30% of people with VWD and can cause bleeding from the skin, nose, and gums, especially after surgery or injury. It’s a qualitative issue, meaning VWF is there but doesn’t function the way it should.

 

Key Takeaways for Clinicians and Caregivers

This case highlights the importance of monitoring the nutritional content of tube feeds, particularly in patients with specialized dietary needs who may not receive commercially available nutritionally complete formulas. Clinicians should be vigilant about the risk of VKD in patients on blenderized tube feeds, as these may fail to meet the recommended intake for vitamin K and other micronutrients. Regular monitoring of macro and micronutrient intake is essential in patients who are on restrictive or specialized diets to prevent deficiencies and associated complications.

References

  1. Vitamin K: The Basics - National Institutes of Health (NIH). Available at: NIH Vitamin K Overview
  2. Vitamin K Deficiency Bleeding - American Academy of Pediatrics. Available at: AAP Vitamin K Deficiency
  3. Management of Coagulopathy in Vitamin K Deficiency - National Library of Medicine. Available at: NLM Vitamin K and Coagulation
  4. Guidelines for the provision of nutrition support therapy in the adult critically ill patient: The American Society for Parenteral and Enteral Nutrition
  5. Vitamin K in Critical Illness - Critical Care Clinics. Available at: Critical Care Vitamin K

Understanding the complexities of vitamin K and its essential role in blood clotting can help prevent serious health issues in vulnerable patients. This case serves as a crucial reminder to ensure that tube feeding regimens are nutritionally adequate and appropriately monitored.

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right.
Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9

 

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