Is Vitamin K Deficiency Hereditary or Acquired?

October 28, 2025 •

4 min read

While most cases of low vitamin K levels are acquired through dietary or other health factors, an extremely rare condition known as Hereditary Combined Vitamin K-Dependent Clotting Factor Deficiency (VKCFD) is indeed hereditary. This article explores the difference between these forms of vitamin K deficiency, helping to distinguish a rare genetic issue from more common acquired causes.

Quick Summary

The majority of vitamin K deficiencies are acquired due to external factors, though a very rare, inherited form called VKCFD exists, caused by specific gene mutations. Acquired deficiencies are often treatable with dietary changes or supplements, while VKCFD requires lifelong management.

Key Points

Acquired vs. Hereditary: Most vitamin K deficiencies are acquired from diet or medication, but a very rare, inherited form exists called VKCFD.
VKCFD is Autosomal Recessive: The hereditary form, VKCFD, is caused by mutations in genes like GGCX or VKORC1 and requires inheriting a mutated gene from both parents.
Symptoms of Hereditary Deficiency: VKCFD can present with severe bleeding from birth and may be accompanied by developmental or skeletal abnormalities.
Diagnosis is Distinct: Diagnosis begins by ruling out common acquired causes. Genetic testing is used to confirm a hereditary VKCFD diagnosis.
Management Varies: Acquired deficiencies are often addressed with short-term supplementation, while hereditary VKCFD requires lifelong, high-dose vitamin K therapy.
Prevention in Newborns: Acquired deficiency bleeding in newborns (VKDB) is routinely prevented with a vitamin K shot at birth.

Understanding the Two Types of Vitamin K Deficiency

To answer the question, "Is vitamin K deficiency hereditary?" it is crucial to differentiate between the two main types: acquired and hereditary. Acquired deficiency, which accounts for the vast majority of cases, is caused by external factors such as diet, medication, or malabsorption issues. Hereditary deficiency, on the other hand, is a congenital, genetic disorder that is extremely rare but runs in families.

Acquired Vitamin K Deficiency

This is the most common form, arising from a patient's diet or medical condition rather than genetics. It is not passed down through generations. Some of the most frequent causes include:

Poor dietary intake: Insufficient consumption of vitamin K-rich foods like leafy green vegetables.
Medications: Certain drugs, particularly antibiotics and blood thinners like warfarin, can interfere with the body's vitamin K metabolism.
Malabsorption issues: Conditions affecting fat absorption, such as celiac disease, cystic fibrosis, or inflammatory bowel diseases, can prevent the body from absorbing fat-soluble vitamins, including vitamin K.
Liver disease: Since many vitamin K-dependent clotting factors are produced in the liver, liver dysfunction can impair their synthesis.
Newborns: Infants are at a higher risk of vitamin K deficiency bleeding (VKDB) because their vitamin K stores are low at birth, and breast milk contains very low levels. This is why a vitamin K injection is routinely administered to newborns.

Hereditary Combined Vitamin K-Dependent Clotting Factor Deficiency (VKCFD)

This is the hereditary form and is a very rare autosomal recessive disorder. It is not caused by a dietary lack of vitamin K but by a genetic mutation that impairs the body's ability to properly utilize it.

VKCFD is caused by mutations in two specific genes, GGCX and VKORC1. These genes are responsible for producing enzymes vital to the vitamin K cycle, which carboxylates (activates) proteins essential for blood clotting and bone health. When these genes are mutated, the resulting enzymes are either non-functional or have reduced activity, leading to a deficiency of multiple vitamin K-dependent clotting factors.

VKCFD is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. A person who inherits only one copy of the mutated gene is a carrier and typically does not show symptoms. The prevalence is extremely low, with fewer than 30 families reported worldwide.

Comparing Acquired vs. Hereditary Vitamin K Deficiency


Feature	Acquired Vitamin K Deficiency	Hereditary (VKCFD) Deficiency
Cause	External factors: diet, medication, malabsorption	Inherited genetic mutations in GGCX or VKORC1
Prevalence	Fairly common, especially in at-risk groups	Extremely rare (<30 reported families worldwide)
Inheritance	Not genetic or hereditary	Autosomal recessive
Primary Symptoms	Excessive bleeding, easy bruising, newborn bleeding (VKDB)	Severe bleeding (often from birth), bruising, skeletal and developmental anomalies
Onset	Can occur at any age depending on cause	Congenital, symptoms often manifest in infancy or neonatally
Response to Treatment	Often corrects with vitamin K supplementation or addressing underlying cause	Requires lifelong, high-dose vitamin K supplementation; response can be variable

Diagnosis and Management

Diagnosing either form of deficiency involves a comprehensive assessment. Doctors will first check for acquired causes, as they are far more common.

Medical History: A review of a patient's dietary habits, medications, and any underlying health conditions is the starting point.
Coagulation Tests: A Prothrombin Time (PT) test is a standard blood test to measure how long blood takes to clot. Prolonged PT and International Normalized Ratio (INR) indicate a problem with clotting factors.
Genetic Testing: If acquired causes are ruled out and a hereditary deficiency (VKCFD) is suspected, genetic testing can be performed. This involves molecular analysis to look for mutations in the GGCX or VKORC1 genes.

For management, acquired deficiency is typically corrected with oral vitamin K supplements or addressing the root cause, like a malabsorption disorder. In contrast, VKCFD requires long-term, high-dose vitamin K supplementation. In cases of severe bleeding or surgery, plasma or prothrombin complex concentrates may also be required.

Prognosis

The prognosis for an acquired vitamin K deficiency is generally excellent, as it is often easily treatable and reversible. The prognosis for VKCFD is also considered good, particularly with early diagnosis and consistent treatment. However, without proper management, VKCFD can lead to serious and even life-threatening bleeding episodes, including intracranial hemorrhages. Genetic counseling is available for families with a history of VKCFD to understand inheritance patterns and potential risks. The rarity of VKCFD also means that research into the condition continues to evolve. For more scientific details on VKCFD, see the article on Orphanet.org.

Conclusion

In summary, while the vast majority of vitamin K deficiencies are caused by acquired, non-genetic factors, it is possible for the condition to be hereditary in very rare cases. The hereditary form, VKCFD, is caused by specific gene mutations that disrupt the body's ability to utilize vitamin K effectively. Diagnosis involves distinguishing between acquired and genetic causes, typically through clinical assessment and genetic testing. Regardless of the cause, timely treatment with vitamin K supplementation is key to managing the condition and preventing serious complications, especially in infants and children.

Disclaimer: This article provides general information and is not a substitute for professional medical advice. Always consult with a qualified healthcare provider for diagnosis and treatment.

Frequently Asked Questions

Yes, but only in extremely rare cases involving a specific genetic disorder called Hereditary Combined Vitamin K-Dependent Clotting Factor Deficiency (VKCFD). The more common form of vitamin K deficiency is acquired through dietary issues or other medical factors and is not inherited.

The hereditary form, VKCFD, is an autosomal recessive disorder caused by mutations in either the gamma-glutamyl carboxylase (GGCX) gene or the vitamin K epoxide reductase complex subunit 1 (VKORC1) gene. These mutations disrupt the body's ability to properly activate vitamin K-dependent proteins.

Hereditary vitamin K deficiency, or VKCFD, is exceptionally rare. Medical literature reports fewer than 30 affected families worldwide, making it a very infrequent condition.

Symptoms of hereditary deficiency (VKCFD) can range from mild to severe and often appear in newborns. Common symptoms include easy and severe bruising, intracranial hemorrhage, and other bleeding episodes. Some cases also present with skeletal and developmental anomalies.

No, the common vitamin K deficiency bleeding (VKDB) in newborns is acquired, not hereditary. It happens because infants have low vitamin K reserves at birth. Hereditary VKCFD is a distinct, much rarer condition.

After ruling out acquired causes with blood tests, a diagnosis of VKCFD is confirmed through genetic testing that analyzes the GGCX and VKORC1 genes for specific mutations. This is crucial for distinguishing it from other bleeding disorders.

Yes, genetic counseling is recommended for families with a confirmed diagnosis or a history of VKCFD. Counselors can provide information on inheritance patterns, the risk of passing the disorder to future generations, and testing options for family members.

For acquired deficiency, treatment usually involves correcting the underlying cause or taking standard oral vitamin K supplements. For hereditary VKCFD, treatment often requires lifelong, high-dose vitamin K supplementation, and response can be variable based on the specific mutation.