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familial partial lipodystrophy (FPLD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial partial lipodystrophy

MONDO:0020088

Also known as:FPLDKoberling-Dunnigan syndromecongenital partial lipodystrophy

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Overview

Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.

OnsetADULT, LATE

Clinical Trials4 registered · 4 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: adulthood, later in life.

GeneReviews

Clinical Guidance

CADASIL is a disease of the small to medium-sized arteries, mainly affecting the brain. The presenting symptoms, age at onset, and disease progression in CADASIL are variable, both between and within families. The disease is characterized by five main symptoms: transient ischemic attacks and recurrent ischemic strokes; cognitive decline; migraine with aura; mood disturbance; and apathy. Subcortical ischemic events. Transient ischemic attacks (TIAs) and stroke, the most frequent presentation, are found in approximately 85% of symptomatic individuals . Mean age at onset for ischemic episodes is 47 years (age range 20-70 years) .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

There are no generally accepted diagnostic criteria for CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). A CADASIL diagnostic screening tool has been proposed by , , and .

Suggestive Findings

CADASIL should be suspected in individuals with unexplained white matter hyperintensities and a family history of stroke and/or vascular dementia; however, lack of an apparent family history of CADASIL does not preclude the diagnosis (see Family history). The following clinical signs and neuroimaging findings can be observed in CADASIL.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial partial lipodystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CADASIL, the following evaluations are recommended, if they have not already been completed. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with CADASIL

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No standard international surveillance guidelines for CADASIL exist. Several countries have developed CADASIL guidelines, such as the medical guideline for CADASIL published (in French) by the French Health Authority (HAS). The interval at which individuals with CADASIL should be seen for follow up depends on the severity and type of symptoms and the needs of patients and their care givers.

Follow up by a neurologist with expertise in CADASIL is recommended from the time of diagnosis onward.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

4 clinical trials registered, 4 recruiting. Interventions under study include other interventions, drug therapy, and gene therapy. Pipeline includes 1 PHASE3, 2 NA. Research is sponsored by a mix of industry and academic institutions.

119 publications have been identified in PubMed for familial partial lipodystrophy. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (27%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	34

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98306

GARD

Genetic and Rare Diseases Info Center

GARD:11962

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

The differential diagnosis of CADASIL includes and . Sporadic/Multifactorial Disorders The clinical characteristics and MRI abnormalities in these conditions may resemble those of CADASIL. The presence of temporopolar MRI lesions, the absence of optic nerve and spinal cord involvement, the absence of oligoclonal bands in the cerebrospinal fluid, and the absence of hypertension are critical in this regard . Table 2. Clinical Signs and MRI Abnormalities of Sporadic/Multifactorial Disorders in the Differential Diagnosis of CADASIL

Disorder	Distinguishing Clinical Characteristics	Distinguishing MRI Abnormalities	Temporopolar MRI Lesions	Optic Nerve Spinal Cord Involvement	Oligoclonal Bands in CSF	Hypertension
Gadolinium enhancement of lesions	Common	Typical	Yes	Not associated Sporadic small vessel disease incl Binswanger's disease	Hypertension; Absence of AD or AR inheritance in family history; Age of onset: 65 yrs	Involvement of temporal pole is rare
Involvement of external capsule occurs less frequently	Rare	No	No	Associated Primary angiitis of the nervous system2	Subacute headache; Multifocal neurologic deficits; Signs symptoms suggestive of systemic vaculitis (peripheral neuropathy, fever, weight loss, rash, night sweats); May occur at any age; median age at diagnosis: 50 yrs	Multifocal infarcts in different vascular territories
Diffuse gadolinium enhanced lesions	Uncommon	Involvement of:; Spinal cord: 5% of affected individuals	—	—	—	—
Optic nerve: rare	Occasionally	Not associated AD = autosomal dominant; AR = autosomal recessive; CSF = cerebrospinal fluid; WMH = white matter hyperintensities 1. 2.	—	—	—	—

Source: GeneReviews — "CADASIL"

Kisho

familial partial lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

familial partial lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications