C1q Deficiency Disorder

• C1q Deficiency Disorder is an infrequently occurring congenital disorder with manifestations that include recurrent skin lesions, long-term infections, and the presence of autoimmune disorders, chiefly systemic lupus erythematosus (SLE). It is informed that over 90% of the cases are associated with SLE
• C1q Deficiency Disorder is a genetic disorder with an autosomal recessive pattern of inheritance. It is caused by mutations in the C1QA, C1QB, or C1QC genes. Due to this, the C1q protein complex important for complement system activation is either abnormal or deficient, causing a set of associated signs and symptoms.
• C1q Deficiency Disorder leads to chronic infections, such as ear infections (otitis media), urinary tract infections (UTIs), and oral infections, apart from skin lesions in the form of small blisters that aggravate on exposure to light, cataracts, loss of scalp hair, including chronic glomerulonephritis and kidney failure.
• The management of C1q Deficiency Disorder depends on the presentations and complications. It may include stem cell transplantation. Systemic lupus erythematosus is treated using corticosteroids and immunosuppressive medications. With intensive medical therapy and for mild cases, the prognosis may be favorable.

 Signs and Symptoms of C1q Deficiency Disorder

• Decreased serum complement factor I results in recurrent infections of the middle ear, urinary tract, and mouth
• Presence of small fluid-filled lesions (blisters or vesicles) that get worse under exposure to sunlight
• Dark skin patches
• Hair loss from the scalp and eyes (eyebrows and eyelashes)
• Cataracts
• Membranoproliferative glomerulonephritis with symptoms that include:
  • Frequent urination
  • Edema or swelling in the face, ankles, hands, and feet
  • Cloudy urine with blood or pus
  • Fever
  • Hypertension
• Systemic lupus erythematosus, if present, may lead to:
  • Skin rashes
  • Fatigue
  • Muscle and joint pain
  • Mouth sores
  • Sensitivity to sunlight
  • Inflammation of the heart and lung linings
  • Chest pain
  • Enlarged lymph nodes

How is C1q Deficiency Disorder Diagnosed?

Diagnosis:

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• Blood tests, as needed.
• Dermoscopy: Dermoscopy is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A skin tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed), and microscope findings, the pathologist arrives at a definitive diagnosis
• Molecular genetic testing to check for or confirm specific causative gene mutation(s)
• Prenatal testing including abdominal ultrasound scans
• Diagnostic tests to check for an underlying disorder or condition if present

Complications:

• Severe emotional stress
• Severe pain in joints
• Blood clots in the legs and lungs
• Uncontrolled blood pressure
• Pericardial effusion
• Pulmonary effusion
• Compromised function of kidneys including kidney failure
• Tissue and organ damage due to recurrent infections
• Decreased quality of life