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Late Congenital Syphilis

Disease Details

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Description: Late congenital syphilis is a form of syphilis that occurs in children who were infected in utero and exhibit symptoms typically after two years of age, often involving severe systemic and developmental complications.
Type: Late congenital syphilis is not a genetically transmitted disease. It is an infection caused by the bacterium Treponema pallidum, transmitted from an infected mother to her baby during pregnancy or at birth.
Signs And Symptoms: Untreated early syphilis infections results in a high risk of poor pregnancy outcomes, including saddle nose, lower extremity abnormalities, miscarriages, premature births, stillbirths, or death in newborns. Some infants with congenital syphilis have symptoms at birth, but many develop symptoms later. Symptoms may include rash, fever, large liver and spleen, and skeletal abnormalities. Newborns will typically not develop a primary syphilitic chancre but may present with signs of secondary syphilis (i.e. generalized body rash). Often these babies will develop syphilitic rhinitis ("snuffles"), the mucus from which is laden with the T. pallidum bacterium, and therefore highly infectious. If a baby with congenital syphilis is not treated early, damage to the bones, teeth, eyes, ears, and brain can occur.Neurosyphilis in newborns may present as cranial nerve palsies, cerebral infarcts (strokes), seizures or eye abnormalities.Many newborns, 55% by some estimates, do not exhibit any symptoms initially, with signs and symptoms developing days to months later.
Prognosis: Late congenital syphilis, if untreated, can lead to serious and potentially life-threatening complications. Prognosis largely depends on the timing of diagnosis and the effectiveness of treatment. Early intervention with appropriate antibiotic therapy, typically penicillin, can significantly improve outcomes and reduce the risk of long-term damage. However, if not treated in a timely manner, late congenital syphilis can cause irreversible damage to multiple organ systems including the eyes, ears, teeth, and bones, and can also affect the cardiovascular and nervous systems. Regular monitoring and follow-up care are essential to manage any residual effects.
Onset: Late congenital syphilis refers to syphilis contracted congenitally (from mother to child during pregnancy) that manifests clinical symptoms after the age of 2 years, often between the ages of 5 and 15, but it can appear later.
Prevalence: The prevalence of late congenital syphilis can vary significantly depending on the region and access to prenatal care and screening programs. Generally, due to improved screening and treatment, the prevalence is low in high-income countries but can be higher in low-resource settings. Precise data on the global prevalence is not typically available, but public health efforts focus on early detection and prevention to minimize occurrence.
Epidemiology: Syphilis affects around one million pregnancies a year. In 2016, there were around 473 cases of congenital syphilis per 100,000 live births and 204,000 deaths from the disease worldwide. Of the 660,000 congenital syphilis cases reported in 2016, 143,000 resulted in deaths of unborn babies, 61,000 deaths of newborn babies, 41,000 low birth weights or preterm births, and 109,000 young children diagnosed with congenital syphilis. Around 75% were from the WHO's African and Eastern Mediterranean regions.Cases of congenital syphilis in the United States have been rising since the early 2010s. The Centers for Disease Control and Prevention (CDC) reported 918 cases for 2017, which is more than twice the yearly incidence of the preceding four years. The incidence in the United States has increased by 754% from 2012 to 2021 with a higher incidence seen in those with a lower socioeconomic status, as well as Black people, Native Americans and Native Hawaiians. Reports in 2023 show a rise of more than 900 percent in Mississippi over the preceding five years.
Intractability: Late congenital syphilis can be challenging to manage, but it is not intractable. Early detection and appropriate antibiotic treatment, primarily with penicillin, can effectively manage and often cure the infection. However, if the disease has progressed to its late stages, it may cause irreversible damage to various organs and systems, necessitating additional supportive and symptomatic treatments. Regular follow-up is essential to monitor and address any complications that may arise.
Disease Severity: Late congenital syphilis can lead to severe, long-term health issues if not properly treated. It can affect multiple organ systems, including the bones, teeth, eyes, and skin, and can result in developmental delays or mental health problems. The severity of the disease depends on the promptness and effectiveness of treatment.
Healthcare Professionals: Disease Ontology ID - DOID:10039
Pathophysiology: Late congenital syphilis occurs in children who were infected with Treponema pallidum, the bacterium that causes syphilis, in utero and in whom the infection was not detected and treated early. This condition typically presents after the age of two years.

**Pathophysiology:**
The pathophysiology of late congenital syphilis involves chronic inflammation and tissue damage resulting from the persistent presence of Treponema pallidum. The organism triggers a prolonged immune response, leading to various clinical manifestations. The hallmark signs include:

1. **Skeletal Abnormalities**: Late congenital syphilis can lead to chronic inflammation of bones and joints, known as osteochondritis and periostitis. Common findings include saber shins (anterior bowing of the tibia) and Hutchinson teeth (peg-shaped, notched incisors).

2. **Neurosyphilis**: The bacteria can invade the central nervous system, leading to various neurological deficits like cranial nerve palsies, intellectual disability, and seizures.

3. **Ocular Manifestations**: Interstitial keratitis is a common finding, leading to eye pain, redness, and potential vision loss.

4. **Hearing Loss**: Sensorineural hearing loss due to labyrinthitis can occur.

5. **Gummatous Lesions**: These granulomatous lesions can occur in various tissues, including the skin, mucous membranes, and internal organs.

Ongoing inflammation and immune response underlie the tissue damage seen in late congenital syphilis, leading to the diverse and severe clinical manifestations characteristic of this condition.
Carrier Status: For late congenital syphilis, the concept of "carrier status" is not applicable. Congenital syphilis results from a mother with syphilis transmitting the infection to her baby during pregnancy. It is an active infection rather than a carrier state. Treatment is essential to manage the disease and prevent complications.
Mechanism: Late congenital syphilis results from untreated or inadequately treated syphilis in a pregnant woman, with transmission to the fetus. The pathogenesis involves the bacterial spirochete *Treponema pallidum* crossing the placental barrier and infecting the fetus, leading to multiple systemic effects depending on the organ systems involved.

Molecular mechanisms include:
1. **Bacterial Invasion:** *T. pallidum* has a unique ability to penetrate mucous membranes and the placental barrier, leading to systemic spread.
2. **Immune Evasion:** The spirochete avoids the host's immune system through low surface antigenicity and antigenic variation.
3. **Inflammatory Response:** The persistent presence of *T. pallidum* elicits a chronic inflammatory response, leading to tissue damage and fibrosis.
4. **Direct Cellular Damage:** *T. pallidum* can damage various cells and tissues directly, though the exact molecular mechanisms are complex and involve interaction with host cell structures.
5. **Endothelial Dysfunction:** Treponemal infections can cause endothelial cell damage, leading to vasculitis and further impairment of blood supply to various organs, contributing to symptoms like Hutchinson teeth, keratitis, and neurological deficits in congenital syphilis.

These mechanisms contribute to the clinical manifestations observed in late congenital syphilis, which can appear years after birth and include deformities, neurological complications, and other systemic issues.
Treatment: If a pregnant mother is identified as being infected with syphilis, treatment can effectively prevent congenital syphilis from developing in the fetus, especially if she is treated before the sixteenth week of pregnancy or at least 30 days prior to delivery. Mothers with primary syphilis can be treated with a single dose of intramuscularly injected penicillin, whereas late-latent, secondary syphilis, or disease of an unknown duration is treated with once weekly penicillin injections for three weeks.The fetus is at greatest risk of contracting syphilis when the mother is in the early stages of infection, but the disease can be passed at any point during pregnancy, even during delivery. An affected child can be treated using antibiotics much like an adult; however, any developmental symptoms are likely to be permanent.The greater the duration between the infection of the mother and conception, the better the outcome for the infant including less chance of stillbirth or developing congenital syphilis.The Centers for Disease Control and Prevention recommends treating symptomatic or babies born to an infected mother with unknown treatment status with procaine penicillin G, 50,000 U/kg dose IM a day in a single dose for 10 days. Treatment for these babies can vary on a case-by-case basis. Treatment cannot reverse any deformities, brain, or permanent tissue damage that has already occurred.A Cochrane review found that antibiotics may be effective for serological cure but in general the evidence around the effectiveness of antibiotics for congenital syphilis is uncertain due to the poor methodological quality of the small number of trials that have been conducted.
Compassionate Use Treatment: Late congenital syphilis often requires treatment with antibiotics. Currently, the first-line treatment is penicillin, specifically Benzathine penicillin G. In terms of compassionate use treatments, off-label, or experimental treatments, there primarily are limited options since penicillin remains highly effective.

1. **Compassionate use treatment:** In cases where standard treatment is not viable, unproven therapies might be considered under compassionate use protocols; however, these are generally rare and there aren't well-documented alternatives.

2. **Off-label or experimental treatments:**
- **Ceftriaxone:** This is occasionally considered off-label, particularly in patients who are allergic to penicillin, although desensitization is preferred due to penicillin's superior efficacy.
- **Doxycycline or Azithromycin:** These are sometimes used off-label, but their effectiveness is less certain, and they are not standard recommendations.

Ultimately, clinical oversight and decisions are tailored to the individual patient's medical history and specific circumstances.
Lifestyle Recommendations: For late congenital syphilis, lifestyle recommendations include:

1. **Adherence to Treatment**: It's crucial to follow the prescribed antibiotic regimen meticulously to ensure the infection is fully treated.

2. **Regular Medical Check-Ups**: Consistent follow-ups with a healthcare provider are important to monitor for any complications or relapses.

3. **Healthy Diet**: Eating a balanced diet rich in vitamins and minerals supports overall health and can help manage symptoms.

4. **Avoiding Alcohol and Tobacco**: These substances can weaken the immune system and should be avoided.

5. **Hydration**: Staying well-hydrated is important for overall health.

6. **Education and Support**: Seek education about the disease to understand its progression and management better, and consider joining support groups for emotional and mental support.

7. **Infection Prevention**: Practice good hygiene and infection control measures to avoid transmitting the infection to others.

8. **Dental Care**: Regular dental check-ups are essential as syphilis can affect oral health.

Always consult with a healthcare provider for personalized advice and guidance.
Medication: Treatment for late congenital syphilis typically involves the administration of penicillin. The specific regimen usually includes:

- **Aqueous crystalline penicillin G**: 50,000 units/kg every 4-6 hours for 10 days.
- **Procaine penicillin G**: 50,000 units/kg intramuscularly daily for 10 days.

These regimens are crucial for adequate treatment and to prevent long-term complications associated with late congenital syphilis.
Repurposable Drugs: As of now, there are no widely recognized repurposable drugs specifically for late congenital syphilis. The mainstay treatment for congenital syphilis, including its late stage, continues to be penicillin, typically administered in its benzathine form or as aqueous crystalline penicillin G. Other antibiotics may be considered in case of penicillin allergy, but such alternatives should be evaluated by a healthcare provider.
Metabolites: Late congenital syphilis does not have specific metabolites that are typically discussed in relation to the disease itself. Instead, diagnosis and monitoring are usually conducted through serological tests and clinical evaluations.
Nutraceuticals: Nutraceuticals are food-derived products that provide additional health benefits beyond basic nutrition. However, their role in treating late congenital syphilis is not well established or recommended. The primary treatment for late congenital syphilis involves antibiotic therapy, typically with penicillin. Nutraceuticals have not been proven to replace or supplement this standard medical treatment effectively.
Peptides: Late congenital syphilis can be treated with penicillin, targeting the Treponema pallidum bacterium responsible for the infection. Peptides are not typically used in the treatment of syphilis. If you have specific questions about peptides in a different context related to syphilis, please provide more details.