Inflammatory Bowel Disease with Crohn’s Disease Suggestion

The patient’s symptoms and physical examination suggest inflammatory bowel disease, with anal skin tags indicating a possible diagnosis of Crohn’s disease. Other symptoms consistent with this diagnosis include iritis and a skin rash that may be erythema nodosum. To confirm the diagnosis, a colonoscopy with biopsies would be the initial investigation. While serum ACE levels can aid in diagnosis, they are often elevated in conditions other than sarcoidosis.

Overall, the patient’s symptoms and physical examination point towards inflammatory bowel disease, with Crohn’s disease as a possible subtype. Further testing is necessary to confirm the diagnosis and rule out other conditions.

After a diarrhoeal illness, the patient may be at risk of developing reactive arthritis, which is a possible diagnosis for both sacroiliitis and plantar fasciitis. However, it is less likely to be related to inflammatory bowel disease (IBD) if there is only one acute episode of diarrhoea.

Sacroiliitis is a condition that affects the sacroiliac joint, which is located at the base of the spine where it connects to the pelvis. It causes inflammation and pain in the lower back, buttocks, and legs. Plantar fasciitis, on the other hand, is a condition that affects the plantar fascia, a thick band of tissue that runs along the bottom of the foot. It causes pain and stiffness in the heel and arch of the foot.

Achondroplasia: A Congenital Condition Causing Impaired Bone Growth

Achondroplasia is a congenital condition that affects bone growth, resulting in short arms and legs, fingers and toes of equal length, increased lumbar lordosis, and normal intellect and life expectancy. Although it is an autosomal dominant condition, most cases occur without a family history. The underlying defect is a mutation in fibroblast growth factor receptor 3 (FGFR3), which is responsible for membranous bone growth. However, 80% of all cases are sporadic mutations, with the most common cause being a de novo mutation. The risk of a de novo mutation is increased due to the age of the father.

Increased paternal age promotes single gene mutations, while increased maternal age promotes non-dysjunction and chromosomal abnormalities. Despite the impaired bone growth, affected patients have normal-sized heads and trunks due to normal membranous bone growth. Achondroplasia is a congenital condition that can be diagnosed through genetic testing and managed through various treatments, including limb-lengthening surgeries and physical therapy.

Common Bone Disorders and Their Symptoms

Paget’s disease is a chronic bone disorder that causes continuous enlargement and deformation of bones, leading to weakness, bone pain, fractures, and arthritis deformities. The symptoms vary depending on the location of bone deformity. Diagnosis of Paget’s disease involves a bone x-ray and measurement of plasma alkaline phosphatase levels, which are usually elevated, while plasma calcium, phosphate, and aminotransferase levels are normal. Treatment includes bisphosphonates, a proper diet, and exercise. Surgery may be necessary if bone deformity or fractures are present.

Gout is another bone disorder caused by a buildup of uric acid in a joint, resulting in sudden, burning pain, swelling, and redness in the joint. This condition is more common in men, and the pain is usually felt in the first metatarsal head.

Osgood-Schlatter disease is caused by tension at the patella tendon, leading to an avulsion fracture that causes pain and swelling over the tibial tubercle.

Rheumatoid arthritis (RA) is an autoimmune disorder that commonly affects the small joints in both hands. Inflammatory markers are elevated, and some cases may have a positive rheumatoid factor.

Systemic lupus erythematosus (SLE) affects multiple systems and is diagnosed using the ACR classification criteria.

Rheumatic Fever and Jones’ Criteria

Rheumatic fever is a rare immunological complication that can occur after an infection with Streptococcus pyogenes. This condition is not commonly seen in developed countries due to the availability of antibiotics. Jones’ criteria are used to diagnose rheumatic fever and are divided into major and minor criteria. The major criteria include pancarditis, Sydenham’s chorea, erythema marginatum, subcutaneous nodules, and polyarthritis. The minor criteria include fever, arthralgia, raised ESR/CRP, prolonged PR interval, and previous rheumatic fever.

Juvenile Idiopathic Arthritis (JIA) and its Characteristics

Juvenile Idiopathic Arthritis (JIA) is a condition characterized by persistent joint swelling in children under 16 years of age without any known cause. It is not the same as rheumatoid arthritis, as only 5% of JIA cases are rheumatoid factor positive polyarthritis. Instead, 60% of JIA cases are ANA+ oligoarthritis. Children with JIA may also experience systemic symptoms, such as chronic anterior uveitis, which requires regular screening. Chronic inflammation can lead to secondary amyloidosis, while poor growth, anorexia, and anaemia are common due to chronic disease and steroid therapy.

Overall, JIA is a complex condition that can have a significant impact on a child’s health and wellbeing. It is important for healthcare professionals to be aware of the various characteristics of JIA and to provide appropriate care and support to affected children and their families.

Differential Diagnosis of Monoarthropathy

Monoarthropathy can have various causes, and one of the possibilities is septic arthritis. To rule out this condition, joint aspiration is necessary, and the sample should be sent for microscopy and culture to detect the presence of crystals and organisms. Polymorphs and organisms are expected in septic arthritis, while negatively birefringent crystals are typical for gout, and positively birefringent crystals are seen in pseudogout. FBC and ESR are not useful for diagnosis, and although an x-ray may show osteoarthritis changes, it is not the primary investigation.

Bendroflumethiazide can increase urate levels and trigger acute gout, but urate concentrations may remain normal during an acute gout attack. Therefore, it is essential to consider all possible causes of monoarthropathy and perform the appropriate tests to make an accurate diagnosis.

Rheumatoid Factor and Diagnostic Markers for Rheumatoid Arthritis

The clinical scenario presented is a common manifestation of rheumatoid arthritis, with a positive rheumatoid factor found in approximately 70% of cases. This factor is an IgM antibody directed against IgG, and while false positives can occur, its presence is highly supportive of the diagnosis and carries prognostic significance. In addition to rheumatoid factor, non-specific markers of inflammation such as erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) are expected to be elevated in patients with rheumatoid arthritis. These diagnostic markers can aid in the diagnosis and management of the disease. Proper interpretation and utilization of these markers can lead to earlier diagnosis and better outcomes for patients with rheumatoid arthritis.

Rickets and Other Growth-Related Disorders

Rickets is a condition that results from a deficiency in vitamin D, which is essential for the mineralization of osteoid. This process primarily occurs at the growth plate, or physis, and in vitamin D deficiency, the growth plate widens, and the metaphysis appears cupped and frayed. The bones become softer than usual, and the lower limbs may develop a bow-legged deformity. In addition to affecting bone health, vitamin D deficiency can also lead to hypocalcemia, which causes muscle spasms and changes in bowel habits.

Growth hormone deficiency, on the other hand, causes growth failure and an immature doll-like facies. Hyperthyroidism tends to occur in teenage girls and presents with weight loss, heat intolerance, and diarrhea. Hypothyroidism, on the other hand, presents with failure to grow, disproportionate weight gain, tiredness, and cold intolerance.

It is important to understand these growth-related disorders and their symptoms to ensure proper diagnosis and treatment. By recognizing the characteristic changes on x-ray in rickets, for example, healthcare professionals can identify and address vitamin D deficiency early on. Similarly, the symptoms of other disorders can help healthcare professionals provide appropriate care and support to those affected.

Reactive Arthritis in Children

Reactive arthritis is the most common form of arthritis in children and is often associated with recent illness. In this case, the child presents with large-joint oligoarthritis following gastroenteritis. While it may also be associated with genitourinary infection, treating the infection does not alter the course of the joint disease. The child should be given analgesia and observed for arthritis elsewhere.

Although this may be a new presentation of enteropathic arthritis or JIA, the child’s lack of chronic disease symptoms reduces the likelihood of these diagnoses. Gout is extremely rare in children, except for in rare metabolic conditions. Septic arthritis must also be considered, but the child is likely to be systemically unwell with features of infection.

In summary, reactive arthritis is the most likely diagnosis in this case of paediatric arthritis following recent illness. It is important to monitor the child’s symptoms and consider other potential diagnoses if necessary.